SIRT1 (sirtuin 1) - Rat Genome Database

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Gene: SIRT1 (sirtuin 1) Homo sapiens
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Symbol: SIRT1
Name: sirtuin 1
RGD ID: 1318374
HGNC Page HGNC:14929
Description: Enables several functions, including DNA-binding transcription factor binding activity; NAD-dependent protein lysine deacetylase activity; and hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides. Involved in several processes, including DNA repair; negative regulation of intracellular signal transduction; and regulation of macromolecule metabolic process. Located in several cellular components, including chromatin; nuclear inner membrane; and nuclear lumen. Part of eNoSc complex. Is active in cytosol. Implicated in Huntington's disease. Biomarker of several diseases, including Huntington's disease; macular degeneration; metabolic dysfunction-associated steatotic liver disease; prostate cancer; and senile cataract.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hSIR2; hSIRT1; NAD-dependent deacetylase sirtuin-1; NAD-dependent protein deacetylase sirtuin-1; NAD-dependent protein deacylase sirtuin-1; regulatory protein SIR2 homolog 1; SIR2; sir2-like 1; SIR2-like protein 1; SIR2alpha; SIR2L1; sirtuin; sirtuin type 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381067,884,656 - 67,918,390 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1067,884,656 - 67,918,390 (+)Ensemblhg38GRCh38
GRCh371069,644,414 - 69,678,147 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361069,314,433 - 69,348,149 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341069,314,432 - 69,348,147NCBI
Celera1062,919,307 - 62,953,016 (+)NCBICelera
Cytogenetic Map10q21.3NCBI
HuRef1063,643,871 - 63,677,731 (+)NCBIHuRef
CHM1_11069,926,404 - 69,960,153 (+)NCBICHM1_1
T2T-CHM13v2.01068,753,401 - 68,787,131 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (EXP,ISO)
Alzheimer's disease  (ISO)
amyotrophic lateral sclerosis  (ISO)
atherosclerosis  (EXP,ISO)
atrial fibrillation  (EXP)
autoimmune disease  (EXP)
autosomal dominant intellectual developmental disorder 70  (IAGP)
Binge Drinking  (ISO)
brain infarction  (EXP)
Brain Injuries  (ISO)
Brain Neoplasms  (EXP)
Breast Neoplasms  (EXP)
Cardiomegaly  (ISO)
Carotid Atherosclerosis  (IEP)
cocaine dependence  (ISO)
colitis  (EXP)
congestive heart failure  (EXP)
demyelinating disease  (EXP)
diabetes mellitus  (EXP)
diabetic retinopathy  (EXP)
endocrine system disease  (EXP)
epilepsy  (IEP)
Experimental Autoimmune Encephalomyelitis  (EXP)
Experimental Autoimmune Myocarditis  (ISO)
Experimental Diabetes Mellitus  (EXP,ISO)
Experimental Liver Cirrhosis  (EXP)
Fibrosis  (EXP)
Genomic Instability  (EXP)
glucose intolerance  (EXP)
heart disease  (EXP)
Hemorrhagic Shock  (ISO)
human immunodeficiency virus infectious disease  (EXP)
Huntington's disease  (IAGP,IEP,ISO)
Hypertrophy  (EXP)
impotence  (ISO)
Insulin Resistance  (EXP,ISO)
Kidney Reperfusion Injury  (ISO)
Left Ventricular Hypertrophy  (ISO)
Liver Injury  (ISO)
Liver Reperfusion Injury  (ISO)
Lung Injury  (EXP)
macular degeneration  (IEP)
metabolic dysfunction-associated steatotic liver disease  (EXP,IEP,ISO)
Metabolic Syndrome  (EXP,ISO)
middle cerebral artery infarction  (ISO)
myocardial infarction  (ISO)
Myocardial Reperfusion Injury  (EXP)
Neoplasm Metastasis  (EXP)
nephrogenic diabetes insipidus  (ISS)
Nerve Degeneration  (EXP)
neurodegenerative disease  (EXP)
neuronal ceroid lipofuscinosis 1  (EXP)
obesity  (EXP,ISO)
osteoporosis  (ISO)
osteosarcoma  (EXP)
Paralysis  (EXP)
Pneumococcal Pneumonia  (EXP)
pneumonia  (EXP)
prostate cancer  (IEP)
Prostatic Neoplasms  (EXP)
retinal disease  (EXP)
senile cataract  (IEP)
steatotic liver disease  (EXP,ISO,ISS)
systemic scleroderma  (EXP)
thrombosis  (EXP)
type 2 diabetes mellitus  (EXP,ISO)
Ventricular Dysfunction, Left  (EXP)
Wallerian Degeneration  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-epicatechin-3-O-gallate  (EXP)
(+)-pilocarpine  (ISO)
(+)-taxifolin  (ISO)
(-)-acanthoic acid  (ISO)
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(20S)-ginsenoside Rg3  (ISO)
(R)-carnitine  (ISO)
(R)-lipoic acid  (ISO)
(S)-naringenin  (EXP)
(S)-nicotine  (EXP,ISO)
(S)-ropivacaine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-butoxyethanol  (ISO)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-hydroxybutyric acid  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3-methylglutaric acid  (ISO)
3-nitropropanoic acid  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (ISO)
4-nitrophenol  (ISO)
4-phenylbutyric acid  (ISO)
5-(2-chloroethyl)-4-methylthiazole  (ISO)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (ISO)
8-Br-cAMP  (EXP)
acadesine  (EXP)
acetic acid  (ISO)
acetylcholine  (ISO)
acetylsalicylic acid  (EXP)
actinomycin D  (EXP,ISO)
aflatoxin B1  (ISO)
aflatoxin M1  (EXP)
agomelatine  (ISO)
AICA ribonucleotide  (EXP,ISO)
aldehydo-D-glucose  (EXP,ISO)
allethrin  (ISO)
alpha-D-galactose  (EXP,ISO)
amino acid  (EXP)
aminoguanidine  (ISO)
Ammothamnine  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP,ISO)
antimony trichloride  (EXP)
apocynin  (ISO)
aristolochic acid A  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP,ISO)
aspartame  (ISO)
atorvastatin calcium  (EXP,ISO)
ATP  (EXP,ISO)
atrazine  (EXP,ISO)
bafilomycin A1  (ISO)
baicalein  (EXP)
benzamide  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP,ISO)
benzophenanthridine  (EXP)
berberine  (EXP,ISO)
Bergenin  (ISO)
beta-lapachone  (ISO)
Betanin  (ISO)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
bortezomib  (ISO)
buta-1,3-diene  (ISO)
butein  (EXP)
Butylbenzyl phthalate  (EXP,ISO)
cadmium acetate  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
Calcimycin  (ISO)
calcium oxalate  (EXP)
calycosin  (ISO)
camptothecin  (EXP)
capsaicin  (EXP,ISO)
Carbaprostacyclin  (ISO)
carbon nanotube  (ISO)
carnosic acid  (EXP)
carteolol  (EXP)
catalpol  (EXP,ISO)
CAY10591  (EXP)
CDP-choline  (ISO)
CGS-21680  (EXP)
Chikusetsusaponin-V  (EXP)
chlorpyrifos  (EXP,ISO)
cholesterol  (ISO)
chromium(6+)  (ISO)
chrysin  (ISO)
cilostazol  (EXP,ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt atom  (EXP)
cobalt dichloride  (EXP,ISO)
cocaine  (ISO)
colforsin daropate hydrochloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cordycepin  (EXP)
cortisol  (EXP)
corynoline  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
cudraflavone B  (EXP)
Cuprizon  (ISO)
curcumin  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP,ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
cyproheptadine  (ISO)
D-glucose  (EXP,ISO)
dapagliflozin  (ISO)
decabromodiphenyl ether  (ISO)
dehydroepiandrosterone  (EXP,ISO)
dehydroepiandrosterone sulfate  (ISO)
deoxynivalenol  (EXP)
desferrioxamine B  (EXP)
dexamethasone  (EXP,ISO)
dexmedetomidine  (ISO)
dextran sulfate  (ISO)
Di-n-hexyl phthalate  (ISO)
Di-n-octyl phthalate  (EXP)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dihydrogen  (EXP)
diisononyl phthalate  (EXP)
dioxygen  (EXP,ISO)
dipentyl phthalate  (ISO)
diprotium  (EXP)
disulfiram  (EXP)
dizocilpine  (ISO)
dizocilpine maleate  (EXP)
dorsomorphin  (EXP,ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP,ISO)
empagliflozin  (ISO)
enzyme inhibitor  (EXP)
ergosterol  (ISO)
Erythropoietin  (EXP)
ethanol  (EXP,ISO)
EUK-8  (ISO)
everolimus  (EXP)
excitatory amino acid agonist  (ISO)
fenbendazole  (EXP)
fenitrothion  (ISO)
fenofibrate  (EXP,ISO)
fenvalerate  (ISO)
ferric ammonium citrate  (EXP,ISO)
fisetin  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (ISO)
formononetin  (ISO)
FR900359  (EXP)
fructose  (EXP,ISO)
fulvestrant  (EXP)
galactose  (EXP,ISO)
gallic acid  (EXP)
gallocatechin  (EXP)
Garcinol  (EXP)
Genipin  (ISO)
genistein  (EXP)
gentamycin  (ISO)
geraniol  (EXP)
ginsenoside Rg1  (EXP)
glucose  (EXP,ISO)
glutathione  (EXP,ISO)
glycyrrhizinic acid  (ISO)
glyoxylic acid  (ISO)
Goe 6976  (EXP)
GW 4064  (ISO)
GW 501516  (EXP)
hesperidin  (ISO)
hexadecanoic acid  (EXP,ISO)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP)
icariin  (EXP,ISO)
imidacloprid  (ISO)
inositol  (ISO)
ionomycin  (ISO)
iprodione  (ISO)
iron atom  (EXP)
iron dextran  (ISO)
iron(0)  (EXP)
isoliquiritigenin  (ISO)
isoniazide  (EXP)
isonicotinamide  (EXP)
isoquinoline-1,5-diol  (EXP)
kainic acid  (ISO)
ketoconazole  (ISO)
KT 5720  (ISO)
lead diacetate  (EXP,ISO)
lead(0)  (ISO)
Licarin A  (ISO)
lidocaine  (ISO)
linagliptin  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
liquiritin  (ISO)
lithocholic acid  (EXP,ISO)
luzindole  (EXP)
LY294002  (EXP)
lycopene  (EXP,ISO)
Magnolol  (ISO)
malonaldehyde  (ISO)
mancozeb  (EXP)
maneb  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (EXP)
melatonin  (EXP,ISO)
menadione  (EXP)
mesalamine  (ISO)
metformin  (EXP,ISO)
methamphetamine  (ISO)
methotrexate  (ISO)
methylglyoxal  (ISO)
metiram  (EXP)
mifepristone  (ISO)
mithramycin  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
monooxygen  (EXP)
monosodium L-glutamate  (ISO)
myricetin  (EXP)
N,N-dimethylglycine  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-methyl-D-aspartic acid  (EXP)
N-methylformamide  (ISO)
N-nitrosodiethylamine  (ISO)
NAD zwitterion  (EXP,ISO)
NAD(+)  (EXP,ISO)
naringin  (ISO)
nickel dichloride  (EXP)
nicotinamide  (EXP,ISO)
nicotine  (EXP,ISO)
nicotinic acid  (ISO)
nimesulide  (ISO)
nitric oxide  (EXP)
nitrites  (ISO)
nitroprusside  (EXP)
nitroxoline  (EXP)
NMN zwitterion  (ISO)
Nonylphenol  (ISO)
ochratoxin A  (EXP)
octreotide  (ISO)
okadaic acid  (EXP)
olaparib  (EXP)
oleanolic acid  (ISO)
oleic acid  (EXP,ISO)
organoselenium compound  (ISO)
oxaloacetic acid  (EXP)
oxidopamine  (EXP)
P(1),P(5)-bis(5'-adenosyl) pentaphosphate  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pentachlorophenol  (ISO)
perfluorododecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
perindopril  (ISO)
phenformin  (EXP)
phenobarbital  (EXP,ISO)
phenol  (EXP)
polymyxin B2  (EXP)
potassium atom  (ISO)
potassium chromate  (ISO)
potassium dichromate  (ISO)
prasugrel hydrochloride  (ISO)
pravastatin  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
Primycin  (EXP)
propionic acid  (EXP)
propofol  (EXP)
propranolol  (ISO)
prostaglandin E2  (EXP,ISO)
prostaglandin F2alpha  (EXP)
pterostilbene  (EXP)
puerarin  (EXP,ISO)
pyrethrins  (ISO)
pyruvic acid  (EXP,ISO)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-galactopyranoside  (EXP)
ramipril  (ISO)
reactive oxygen species  (ISO)
rebaudioside A  (ISO)
resveratrol  (EXP,ISO)
rotenone  (EXP,ISO)
rutin  (ISO)
S-nitroso-L-cysteine  (EXP)
salicylic acid  (ISO)
Salidroside  (EXP)
Salvianolic acid A  (ISO)
salvianolic acid B  (EXP,ISO)
SB 203580  (EXP,ISO)
SB 431542  (EXP)
selenium atom  (EXP,ISO)
silibinin  (ISO)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sirolimus  (EXP,ISO)
sirtinol  (EXP,ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium chloride  (EXP)
sodium fluoride  (ISO)
splitomicin  (EXP,ISO)
staurosporine  (ISO)
steviol  (ISO)
stevioside  (ISO)
streptozocin  (ISO)
sucrose  (ISO)
sulforaphane  (EXP)
sulindac  (EXP)
sunitinib  (EXP)
superoxide  (ISO)
suramin  (EXP,ISO)
T-2 toxin  (ISO)
taurine  (EXP,ISO)
temozolomide  (EXP)
tert-butanol  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thimerosal  (EXP)
thiram  (EXP)
thymoquinone  (EXP,ISO)
thyroxine  (EXP)
trans-piceid  (EXP)
triphenylstannane  (EXP,ISO)
Triptolide  (ISO)
triptonide  (ISO)
tris(2-chloroethyl) phosphate  (EXP)
Tungsten carbide  (EXP)
umbelliferone  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vincristine  (ISO)
Vinpocetine  (ISO)
vitamin E  (EXP)
wortmannin  (EXP,ISO)
zearalenone  (ISO)
zinc atom  (EXP)
zinc protoporphyrin  (EXP)
zinc(0)  (EXP)
ziram  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IDA,IEA)
apoptotic process  (IEA)
attachment of mitotic spindle microtubules to kinetochore  (IDA)
behavioral response to starvation  (IEA)
cardiac muscle cell apoptotic process  (ISO)
cell differentiation  (IEA)
cellular response to amyloid-beta  (ISO)
cellular response to antibiotic  (ISO)
cellular response to curcumin  (ISO)
cellular response to glucose starvation  (IMP)
cellular response to hydrogen peroxide  (IDA,ISO)
cellular response to hypoxia  (IEA,IMP)
cellular response to ionizing radiation  (IEA,ISS)
cellular response to leukemia inhibitory factor  (IEA)
cellular response to resveratrol  (ISO)
cellular response to rotenone  (ISO)
cellular response to starvation  (IEA,ISS)
cellular response to tumor necrosis factor  (IDA)
cellular response to vitamin B3  (ISO)
cholesterol homeostasis  (IEA,ISS)
chromatin organization  (IMP)
circadian regulation of gene expression  (IEA,IMP,ISS)
circadian rhythm  (IEA)
DNA damage response  (IBA,IDA)
DNA methylation-dependent constitutive heterochromatin formation  (TAS)
DNA repair-dependent chromatin remodeling  (IDA)
DNA synthesis involved in DNA repair  (IEA,ISS)
endoplasmic reticulum unfolded protein response  (IDA,IEA)
energy homeostasis  (IMP,ISO)
fatty acid homeostasis  (IEA,ISS)
gluconeogenesis  (IDA)
heterochromatin formation  (IDA,IEA)
hippo signaling  (IDA,TAS)
intracellular glucose homeostasis  (IEA,ISS)
intracellular triglyceride homeostasis  (IEA,ISS)
intrinsic apoptotic signaling pathway  (ISO)
intrinsic apoptotic signaling pathway in response to DNA damage  (IEA)
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  (IMP)
leptin-mediated signaling pathway  (IEA,ISS)
macrophage differentiation  (IEA,ISS)
maintenance of nucleus location  (IDA)
mitochondrion organization  (ISO)
muscle organ development  (IEA)
negative regulation of adipose tissue development  (ISO)
negative regulation of androgen receptor signaling pathway  (IMP)
negative regulation of apoptotic process  (IMP)
negative regulation of attachment of mitotic spindle microtubules to kinetochore  (IDA)
negative regulation of canonical NF-kappaB signal transduction  (IDA)
negative regulation of cardiac muscle cell apoptotic process  (ISO)
negative regulation of cell cycle  (IMP)
negative regulation of cellular response to testosterone stimulus  (IMP)
negative regulation of cellular senescence  (IDA,IMP)
negative regulation of DNA binding  (ISO)
negative regulation of DNA damage response, signal transduction by p53 class mediator  (IDA)
negative regulation of DNA-templated transcription  (IBA,IDA,IEA,IMP)
negative regulation of fat cell differentiation  (IEA,ISS)
negative regulation of fibroblast apoptotic process  (ISO)
negative regulation of gene expression  (IMP)
negative regulation of growth hormone secretion  (ISO)
negative regulation of hippo signaling  (IDA)
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  (IEA,ISS)
negative regulation of neuron apoptotic process  (IEA,ISO)
negative regulation of NF-kappaB transcription factor activity  (IDA)
negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  (IMP)
negative regulation of peptidyl-lysine acetylation  (IDA)
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA,IMP)
negative regulation of phosphorylation  (IMP)
negative regulation of prostaglandin biosynthetic process  (IEA,ISS)
negative regulation of protein acetylation  (IMP,ISO)
negative regulation of protein localization to nucleus  (ISO)
negative regulation of reactive oxygen species biosynthetic process  (ISO)
negative regulation of signal transduction by p53 class mediator  (IDA)
negative regulation of TOR signaling  (IEA,IMP)
negative regulation of transcription by RNA polymerase II  (IDA,IEA,IMP)
negative regulation of transforming growth factor beta receptor signaling pathway  (IEA,ISS)
negative regulation of triglyceride biosynthetic process  (IDA)
negative regulation of tumor necrosis factor production  (ISO)
neuron apoptotic process  (ISO)
ovulation from ovarian follicle  (IEA)
peptidyl-lysine acetylation  (IMP)
positive regulation of adaptive immune response  (IDA)
positive regulation of adipose tissue development  (IEA,ISS)
positive regulation of angiogenesis  (IDA,IMP)
positive regulation of apoptotic process  (IDA,IEA,IMP)
positive regulation of ATP biosynthetic process  (ISO)
positive regulation of blood vessel endothelial cell migration  (IDA)
positive regulation of cAMP-dependent protein kinase activity  (IMP)
positive regulation of cell growth involved in cardiac muscle cell development  (ISO)
positive regulation of cell population proliferation  (IMP)
positive regulation of cellular senescence  (IDA)
positive regulation of cholesterol efflux  (IEA,ISS)
positive regulation of DNA repair  (IMP)
positive regulation of double-strand break repair  (IDA)
positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  (IEA)
positive regulation of endothelial cell proliferation  (IMP)
positive regulation of gene expression  (ISO)
positive regulation of gluconeogenesis  (IDA,IEA,ISO)
positive regulation of granulosa cell apoptotic process  (ISO)
positive regulation of heart rate  (ISO)
positive regulation of insulin receptor signaling pathway  (IDA)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (ISO)
positive regulation of macroautophagy  (IDA,IEA)
positive regulation of macrophage apoptotic process  (IEA,ISS)
positive regulation of macrophage cytokine production  (IEA,ISS)
positive regulation of MHC class II biosynthetic process  (IDA)
positive regulation of mitochondrial membrane potential  (ISO)
positive regulation of neuron projection development  (ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA,ISS)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IEA,IMP)
positive regulation of protein deacetylation  (ISO)
positive regulation of protein phosphorylation  (ISS)
positive regulation of skeletal muscle cell proliferation  (ISO)
positive regulation of small molecule metabolic process  (IEA)
positive regulation of smooth muscle cell differentiation  (IEA)
positive regulation of thyroid-stimulating hormone secretion  (ISO)
positive regulation of transcription by RNA polymerase II  (IDA,IEA)
positive regulation of triglyceride catabolic process  (ISO)
proteasome-mediated ubiquitin-dependent protein catabolic process  (IEA,IMP)
protein deacetylation  (IDA,IMP,ISO)
protein depropionylation  (ISS)
protein destabilization  (IEA,ISS)
protein ubiquitination  (IDA)
pyrimidine dimer repair by nucleotide-excision repair  (IEA,IMP)
rDNA heterochromatin formation  (IDA,IMP,TAS)
regulation of apoptotic process  (IMP)
regulation of bile acid biosynthetic process  (IEA,ISS)
regulation of brown fat cell differentiation  (IEA,ISS)
regulation of cell population proliferation  (IMP)
regulation of cellular response to heat  (TAS)
regulation of centrosome duplication  (IDA)
regulation of developmental process  (IEA)
regulation of endodeoxyribonuclease activity  (IMP)
regulation of glucose metabolic process  (IEA,ISS)
regulation of lipid biosynthetic process  (IEA)
regulation of lipid storage  (IEA,ISS)
regulation of mitotic cell cycle  (IDA)
regulation of multicellular organismal process  (IEA)
regulation of peroxisome proliferator activated receptor signaling pathway  (IEA,ISS)
regulation of smooth muscle cell apoptotic process  (IEA,ISS)
regulation of transcription by glucose  (IMP)
response to cocaine  (ISO)
response to ethanol  (ISO)
response to fluoride  (ISO)
response to hydrogen peroxide  (IDA)
response to insulin  (IEA,ISS)
response to kainic acid  (ISO)
response to leptin  (IEA,ISS)
response to mycotoxin  (ISO)
response to nutrient levels  (ISO)
response to oxidative stress  (IDA)
response to resveratrol  (ISO)
rhythmic process  (IEA)
signal transduction by p53 class mediator  (IDA)
single strand break repair  (IMP)
spermatogenesis  (IEA)
stress-induced premature senescence  (IMP)
subtelomeric heterochromatin formation  (IBA)
transforming growth factor beta receptor signaling pathway  (IDA)
tricarboxylic acid metabolic process  (IDA)
triglyceride biosynthetic process  (IDA)
triglyceride mobilization  (IEA,ISS)
UV-damage excision repair  (IMP)
vasodilation  (ISO)
white fat cell differentiation  (IEA,ISS)

Cellular Component

Molecular Function
acyltransferase activity, transferring groups other than amino-acyl groups  (IEA)
bHLH transcription factor binding  (IPI)
caspase binding  (ISO)
deacetylase activity  (IDA,IEA)
DNA-binding transcription factor binding  (IPI)
enzyme activator activity  (IDA)
enzyme binding  (IEA,IPI,ISO)
enzyme inhibitor activity  (IEA)
histone binding  (IPI)
histone deacetylase activity  (EXP,IEA)
histone deacetylase activity, NAD-dependent  (IDA,IEA,ISO)
histone H3K deacetylase activity  (IDA)
histone H3K14 deacetylase activity, NAD-dependent  (IBA,IDA)
histone H3K9 deacetylase activity, NAD-dependent  (IBA,IDA,IEA,ISS)
histone H4K12 deacetylase activity, hydrolytic mechanism  (IDA)
histone H4K16 deacetylase activity, NAD-dependent  (IBA,IDA,IEA)
HLH domain binding  (IPI)
identical protein binding  (IPI)
keratin filament binding  (IPI)
metal ion binding  (IEA)
mitogen-activated protein kinase binding  (IPI)
NAD+ binding  (IEA)
NAD+ poly-ADP-ribosyltransferase activity  (TAS)
NAD+-protein mono-ADP-ribosyltransferase activity  (TAS)
NAD-dependent histone decrotonylase activity  (IDA)
NAD-dependent protein decrotonylase activity  (IEA)
NAD-dependent protein lysine deacetylase activity  (IDA,IEA,IMP,TAS)
NAD-dependent protein lysine delactylase activity  (IDA,IEA)
NAD-dependent protein-lysine depropionylase activity  (IEA,ISS)
nuclear receptor binding  (IPI)
p53 binding  (IEA,IPI)
promoter-specific chromatin binding  (IEA)
protein binding  (IPI)
protein domain specific binding  (IEA)
protein kinase B binding  (ISO)
protein lysine deacetylase activity  (IDA,IEA,IMP,TAS)
RNA polymerase II cis-regulatory region sequence-specific DNA binding  (IEA)
transcription coactivator activity  (IEA)
transcription corepressor activity  (IBA,IDA,IEA,IMP,ISS)
transcription regulator inhibitor activity  (IDA)
transferase activity  (IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
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Additional References at PubMed
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PMID:33779856   PMID:33812169   PMID:33834065   PMID:33859776   PMID:33904366   PMID:33907836   PMID:33916948   PMID:33920458   PMID:33932899   PMID:33935044   PMID:33955831   PMID:33957017  
PMID:33957083   PMID:33961781   PMID:33965557   PMID:33967268   PMID:33978360   PMID:33988159   PMID:33993657   PMID:34010066   PMID:34021216   PMID:34034499   PMID:34073604   PMID:34079125  
PMID:34087318   PMID:34091597   PMID:34097717   PMID:34097876   PMID:34098144   PMID:34103440   PMID:34119539   PMID:34145535   PMID:34147543   PMID:34147841   PMID:34149611   PMID:34152844  
PMID:34155600   PMID:34163012   PMID:34171447   PMID:34184746   PMID:34189442   PMID:34205021   PMID:34226501   PMID:34251648   PMID:34256387   PMID:34266953   PMID:34269838   PMID:34294459  
PMID:34296298   PMID:34308769   PMID:34322899   PMID:34328346   PMID:34333021   PMID:34364937   PMID:34368883   PMID:34384029   PMID:34397817   PMID:34407842   PMID:34439776   PMID:34445787  
PMID:34455406   PMID:34459925   PMID:34462429   PMID:34471223   PMID:34502418   PMID:34507636   PMID:34509564   PMID:34537933   PMID:34586578   PMID:34638626   PMID:34642302   PMID:34665857  
PMID:34708240   PMID:34719479   PMID:34719845   PMID:34725563   PMID:34747550   PMID:34750509   PMID:34758305   PMID:34769292   PMID:34780483   PMID:34780888   PMID:34798239   PMID:34808628  
PMID:34818543   PMID:34822940   PMID:34830158   PMID:34833421   PMID:34847407   PMID:34856334   PMID:34866331   PMID:34870752   PMID:34871625   PMID:34878321   PMID:34883445   PMID:34921745  
PMID:34928346   PMID:34934771   PMID:34939720   PMID:34947995   PMID:34981667   PMID:34994384   PMID:35007762   PMID:35029291   PMID:35030965   PMID:35092334   PMID:35132380   PMID:35137552  
PMID:35140242   PMID:35163314   PMID:35166127   PMID:35166167   PMID:35181615   PMID:35184653   PMID:35204824   PMID:35212616   PMID:35224092   PMID:35256949   PMID:35260907   PMID:35264561  
PMID:35267956   PMID:35275221   PMID:35283251   PMID:35296808   PMID:35348966   PMID:35352247   PMID:35416346   PMID:35429439   PMID:35429577   PMID:35449317   PMID:35451939   PMID:35460951  
PMID:35469171   PMID:35496046   PMID:35502827   PMID:35536066   PMID:35538794   PMID:35541916   PMID:35546771   PMID:35563538   PMID:35568871   PMID:35587604   PMID:35630070   PMID:35644944  
PMID:35674253   PMID:35730625   PMID:35732914   PMID:35762319   PMID:35778952   PMID:35813294   PMID:35821263   PMID:35831314   PMID:35839539   PMID:35839571   PMID:35840944   PMID:35853732  
PMID:35853978   PMID:35894157   PMID:35909524   PMID:35931247   PMID:35968712   PMID:35976439   PMID:35980861   PMID:36030228   PMID:36035216   PMID:36056948   PMID:36071344   PMID:36089195  
PMID:36095012   PMID:36105616   PMID:36137422   PMID:36138054   PMID:36145164   PMID:36153473   PMID:36169947   PMID:36170022   PMID:36215168   PMID:36222184   PMID:36224002   PMID:36259465  
PMID:36285745   PMID:36306110   PMID:36350618   PMID:36361557   PMID:36437743   PMID:36442811   PMID:36497176   PMID:36503597   PMID:36510377   PMID:36517234   PMID:36537216   PMID:36576135  
PMID:36580159   PMID:36624641   PMID:36657504   PMID:36682830   PMID:36690678   PMID:36693551   PMID:36709622   PMID:36730441   PMID:36740765   PMID:36749073   PMID:36840968   PMID:36843438  
PMID:36881408   PMID:36881661   PMID:36882816   PMID:36882837   PMID:36913826   PMID:36949521   PMID:36990198   PMID:37018986   PMID:37063743   PMID:37071664   PMID:37087022   PMID:37087591  
PMID:37142272   PMID:37167062   PMID:37175937   PMID:37223481   PMID:37258580   PMID:37267103   PMID:37268558   PMID:37277492   PMID:37278055   PMID:37291217   PMID:37294424   PMID:37309898  
PMID:37311988   PMID:37353804   PMID:37465926   PMID:37499928   PMID:37507744   PMID:37511041   PMID:37537789   PMID:37544635   PMID:37545421   PMID:37575080   PMID:37652148   PMID:37665721  
PMID:37670386   PMID:37673677   PMID:37679295   PMID:37679377   PMID:37689310   PMID:37695462   PMID:37696385   PMID:37697309   PMID:37697693   PMID:37715252   PMID:37728850   PMID:37730614  
PMID:37758217   PMID:37776468   PMID:37779142   PMID:37807333   PMID:37816710   PMID:37820952   PMID:37850626   PMID:37857342   PMID:37862340   PMID:37866458   PMID:37866664   PMID:37874693  
PMID:37895086   PMID:37935950   PMID:37949849   PMID:37966393   PMID:37998365   PMID:38001390   PMID:38003402   PMID:38034869   PMID:38036217   PMID:38062807   PMID:38136977   PMID:38149816  
PMID:38176954   PMID:38195017   PMID:38211965   PMID:38214831   PMID:38228115   PMID:38237370   PMID:38255792   PMID:38270305   PMID:38283900   PMID:38293991   PMID:38297188   PMID:38326276  
PMID:38345973   PMID:38353742   PMID:38393490   PMID:38397428   PMID:38401628   PMID:38417433   PMID:38421553   PMID:38443596   PMID:38447234   PMID:38466472   PMID:38467242   PMID:38490314  
PMID:38512451   PMID:38533551   PMID:38558173   PMID:38580884   PMID:38598008   PMID:38612458   PMID:38617450   PMID:38663003   PMID:38673851   PMID:38823208   PMID:38865161   PMID:39010253  
PMID:39012929   PMID:39059350   PMID:39078281   PMID:39148391   PMID:39198693   PMID:39285243   PMID:39305980   PMID:39441175   PMID:39617063   PMID:40425833  


Genomics

Comparative Map Data
SIRT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381067,884,656 - 67,918,390 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1067,884,656 - 67,918,390 (+)Ensemblhg38GRCh38
GRCh371069,644,414 - 69,678,147 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361069,314,433 - 69,348,149 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341069,314,432 - 69,348,147NCBI
Celera1062,919,307 - 62,953,016 (+)NCBICelera
Cytogenetic Map10q21.3NCBI
HuRef1063,643,871 - 63,677,731 (+)NCBIHuRef
CHM1_11069,926,404 - 69,960,153 (+)NCBICHM1_1
T2T-CHM13v2.01068,753,401 - 68,787,131 (+)NCBIT2T-CHM13v2.0
Sirt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391063,154,784 - 63,174,814 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1063,154,784 - 63,217,483 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381063,319,005 - 63,339,035 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1063,319,005 - 63,381,704 (-)Ensemblmm10GRCm38
MGSCv371062,781,753 - 62,801,783 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361062,714,418 - 62,734,374 (-)NCBIMGSCv36mm8
Celera1064,419,012 - 64,437,105 (-)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1032.57NCBI
Sirt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82025,305,953 - 25,328,000 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl2025,305,476 - 25,328,000 (+)EnsemblGRCr8
mRatBN7.22025,307,225 - 25,329,273 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2025,306,917 - 25,329,260 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx2026,008,013 - 26,022,190 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02025,361,037 - 25,375,213 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02025,947,577 - 25,961,754 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.02026,831,971 - 26,851,587 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2026,833,357 - 26,852,199 (-)Ensemblrn6Rnor6.0
Rnor_5.0208,139,854 - 8,159,830 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.42025,675,302 - 25,686,494 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera2026,607,505 - 26,627,344 (+)NCBICelera
RGSC_v3.12025,681,998 - 25,700,388 (-)NCBI
Cytogenetic Map20p11NCBI
Sirt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542520,279,963 - 20,307,663 (+)Ensembl
ChiLan1.0NW_00495542520,280,725 - 20,307,663 (+)NCBIChiLan1.0ChiLan1.0
SIRT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2880,046,153 - 80,080,740 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11080,053,299 - 80,086,063 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01064,368,878 - 64,401,684 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11066,681,983 - 66,714,065 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1066,681,598 - 66,715,069 (+)EnsemblpanPan2panpan1.1
SIRT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1419,188,616 - 19,220,031 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl419,188,675 - 19,218,279 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha419,317,273 - 19,349,181 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0419,454,692 - 19,486,553 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl419,454,710 - 19,546,039 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1419,337,295 - 19,369,150 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0419,559,257 - 19,591,114 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0419,901,939 - 19,934,337 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Sirt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721361,803,376 - 61,829,477 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493652110,296,097 - 10,322,215 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493652110,296,097 - 10,316,673 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SIRT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1471,091,167 - 71,123,297 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11471,091,167 - 71,126,351 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21477,182,651 - 77,184,716 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.21477,053,991 - 77,079,850 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SIRT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1963,463,059 - 63,497,893 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl963,462,389 - 63,497,867 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366604824,231,602 - 24,266,452 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sirt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247542,304,634 - 2,330,946 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247542,304,476 - 2,332,705 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in SIRT1
131 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012238.5(SIRT1):c.320T>C (p.Leu107Pro) single nucleotide variant Variant of unknown significance [RCV000041965] Chr10:67885041 [GRCh38]
Chr10:69644799 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2		 pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2		 pathogenic
NM_012238.4(SIRT1):c.1354C>T (p.Pro452Ser) single nucleotide variant Malignant melanoma [RCV000069005] Chr10:67909439 [GRCh38]
Chr10:69669196 [GRCh37]
Chr10:69339202 [NCBI36]
Chr10:10q21.3		 not provided
NM_001142498.1(SIRT1):c.58-4930T>C single nucleotide variant Lung cancer [RCV000109314] Chr10:67901860 [GRCh38]
Chr10:69661618 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.233A>G (p.Glu78Gly) single nucleotide variant not specified [RCV000202791] Chr10:67884954 [GRCh38]
Chr10:69644712 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3		 pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2		 pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_012238.5(SIRT1):c.580A>G (p.Ile194Val) single nucleotide variant not specified [RCV004322012] Chr10:67888914 [GRCh38]
Chr10:69648672 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.53C>T (p.Ala18Val) single nucleotide variant not specified [RCV004312582] Chr10:67884774 [GRCh38]
Chr10:69644532 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.56G>C (p.Gly19Ala) single nucleotide variant not specified [RCV004312583] Chr10:67884777 [GRCh38]
Chr10:69644535 [GRCh37]
Chr10:10q21.3		 likely benign
GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1 copy number loss not provided [RCV000513331] Chr10:68394411..70673475 [GRCh37]
Chr10:10q21.3-22.1		 likely pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_012238.5(SIRT1):c.1606G>A (p.Glu536Lys) single nucleotide variant not provided [RCV000948374] Chr10:67912722 [GRCh38]
Chr10:69672479 [GRCh37]
Chr10:10q21.3		 benign
NM_012238.5(SIRT1):c.1992C>T (p.Asp664=) single nucleotide variant not provided [RCV000906411] Chr10:67916341 [GRCh38]
Chr10:69676098 [GRCh37]
Chr10:10q21.3		 benign
NM_012238.5(SIRT1):c.561T>C (p.Phe187=) single nucleotide variant not provided [RCV000881257] Chr10:67888895 [GRCh38]
Chr10:69648653 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.24C>A (p.Ala8=) single nucleotide variant not provided [RCV000969243] Chr10:67884745 [GRCh38]
Chr10:69644503 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.509A>G (p.His170Arg) single nucleotide variant SIRT1-related disorder [RCV003925827]|not provided [RCV000938820] Chr10:67887495 [GRCh38]
Chr10:69647253 [GRCh37]
Chr10:10q21.3		 likely benign
GRCh37/hg19 10q21.3(chr10:69066516-70079295)x3 copy number gain not provided [RCV001006334] Chr10:69066516..70079295 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3(chr10:69545126-69883765)x3 copy number gain not provided [RCV001006335] Chr10:69545126..69883765 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.403GCG[6] (p.Ala139dup) microsatellite not provided [RCV001950642] Chr10:67885122..67885123 [GRCh38]
Chr10:69644880..69644881 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.208GCG[6] (p.Ala74dup) microsatellite not provided [RCV001914500] Chr10:67884928..67884929 [GRCh38]
Chr10:69644686..69644687 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.841G>A (p.Ala281Thr) single nucleotide variant not provided [RCV001982696] Chr10:67891453 [GRCh38]
Chr10:69651211 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3		 pathogenic
NM_012238.5(SIRT1):c.2235_2238del (p.Lys746fs) microsatellite not provided [RCV001872417] Chr10:67916580..67916583 [GRCh38]
Chr10:69676337..69676340 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.392A>G (p.Glu131Gly) single nucleotide variant not provided [RCV001984282] Chr10:67885113 [GRCh38]
Chr10:69644871 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.209C>T (p.Ala70Val) single nucleotide variant not provided [RCV002010470]|not specified [RCV004045949] Chr10:67884930 [GRCh38]
Chr10:69644688 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_012238.5(SIRT1):c.998C>T (p.Ser333Leu) single nucleotide variant not provided [RCV001977764] Chr10:67906845 [GRCh38]
Chr10:69666602 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.2132G>C (p.Arg711Thr) single nucleotide variant not provided [RCV001900380] Chr10:67916481 [GRCh38]
Chr10:69676238 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.372CGA[5] (p.Asp127dup) microsatellite not provided [RCV001901018] Chr10:67885090..67885091 [GRCh38]
Chr10:69644848..69644849 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1071A>T (p.Gln357His) single nucleotide variant not provided [RCV001976616] Chr10:67906918 [GRCh38]
Chr10:69666675 [GRCh37]
Chr10:10q21.3		 uncertain significance
NC_000010.10:g.(?_67680088)_(71332799_?)del deletion not provided [RCV001956019] Chr10:67680088..71332799 [GRCh37]
Chr10:10q21.3-22.1		 pathogenic|uncertain significance
NC_000010.10:g.(?_69644213)_(69651332_?)dup duplication not provided [RCV001922901] Chr10:69644213..69651332 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.446G>A (p.Gly149Asp) single nucleotide variant not provided [RCV001923892]|not specified [RCV004044139] Chr10:67887432 [GRCh38]
Chr10:69647190 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.182C>G (p.Pro61Arg) single nucleotide variant not provided [RCV001959686] Chr10:67884903 [GRCh38]
Chr10:69644661 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.40T>C (p.Ser14Pro) single nucleotide variant SIRT1-related disorder [RCV003923416]|not provided [RCV002049703] Chr10:67884761 [GRCh38]
Chr10:69644519 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_012238.5(SIRT1):c.204G>A (p.Pro68=) single nucleotide variant not provided [RCV002206014] Chr10:67884925 [GRCh38]
Chr10:69644683 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.341C>A (p.Pro114Gln) single nucleotide variant SIRT1-related disorder [RCV003933645]|not provided [RCV002169124] Chr10:67885062 [GRCh38]
Chr10:69644820 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_012238.5(SIRT1):c.48G>A (p.Ser16=) single nucleotide variant not provided [RCV002104334] Chr10:67884769 [GRCh38]
Chr10:69644527 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_012238.5(SIRT1):c.994T>C (p.Leu332=) single nucleotide variant not provided [RCV002211534] Chr10:67906841 [GRCh38]
Chr10:69666598 [GRCh37]
Chr10:10q21.3		 benign
NM_012238.5(SIRT1):c.942+7T>C single nucleotide variant not provided [RCV002116331] Chr10:67891561 [GRCh38]
Chr10:69651319 [GRCh37]
Chr10:10q21.3		 benign
NM_012238.5(SIRT1):c.110C>T (p.Pro37Leu) single nucleotide variant SIRT1-related disorder [RCV003913532]|not provided [RCV002164593] Chr10:67884831 [GRCh38]
Chr10:69644589 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_012238.5(SIRT1):c.1091-20T>C single nucleotide variant not provided [RCV002159293] Chr10:67908026 [GRCh38]
Chr10:69667783 [GRCh37]
Chr10:10q21.3		 benign
NM_012238.5(SIRT1):c.290C>A (p.Ala97Glu) single nucleotide variant SIRT1-related disorder [RCV003958554]|not provided [RCV002202820] Chr10:67885011 [GRCh38]
Chr10:69644769 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.960A>G (p.Gln320=) single nucleotide variant not provided [RCV003121280] Chr10:67906807 [GRCh38]
Chr10:69666564 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.689A>T (p.Glu230Val) single nucleotide variant not specified [RCV004319997] Chr10:67889023 [GRCh38]
Chr10:69648781 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.319C>T (p.Leu107=) single nucleotide variant not provided [RCV002968122] Chr10:67885040 [GRCh38]
Chr10:69644798 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.6G>A (p.Ala2=) single nucleotide variant not provided [RCV002908919] Chr10:67884727 [GRCh38]
Chr10:69644485 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.59C>G (p.Ala20Gly) single nucleotide variant not specified [RCV004204130] Chr10:67884780 [GRCh38]
Chr10:69644538 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1410T>C (p.Pro470=) single nucleotide variant not provided [RCV002881590] Chr10:67912526 [GRCh38]
Chr10:69672283 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.1062G>A (p.Ala354=) single nucleotide variant not provided [RCV002908767] Chr10:67906909 [GRCh38]
Chr10:69666666 [GRCh37]
Chr10:10q21.3		 benign
NM_012238.5(SIRT1):c.196G>T (p.Gly66Cys) single nucleotide variant not provided [RCV002908219] Chr10:67884917 [GRCh38]
Chr10:69644675 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.76T>G (p.Ser26Ala) single nucleotide variant not specified [RCV004199544] Chr10:67884797 [GRCh38]
Chr10:69644555 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q21.3(chr10:69575390-69911592)x3 copy number gain not provided [RCV002475716] Chr10:69575390..69911592 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1993G>A (p.Val665Ile) single nucleotide variant not specified [RCV004209668] Chr10:67916342 [GRCh38]
Chr10:69676099 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.236C>T (p.Ala79Val) single nucleotide variant not provided [RCV002871282] Chr10:67884957 [GRCh38]
Chr10:69644715 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.59C>A (p.Ala20Asp) single nucleotide variant not specified [RCV004225097] Chr10:67884780 [GRCh38]
Chr10:69644538 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.2206G>A (p.Glu736Lys) single nucleotide variant not provided [RCV003053515] Chr10:67916555 [GRCh38]
Chr10:69676312 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.308A>G (p.Asn103Ser) single nucleotide variant not specified [RCV004102519] Chr10:67885029 [GRCh38]
Chr10:69644787 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.2191A>G (p.Ile731Val) single nucleotide variant not provided [RCV002952350] Chr10:67916540 [GRCh38]
Chr10:69676297 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.192_215del (p.Arg65_Ala72del) deletion SIRT1-related disorder [RCV003926511]|not provided [RCV002926891] Chr10:67884905..67884928 [GRCh38]
Chr10:69644663..69644686 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_012238.5(SIRT1):c.77C>T (p.Ser26Leu) single nucleotide variant not provided [RCV002999231] Chr10:67884798 [GRCh38]
Chr10:69644556 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1452C>T (p.Val484=) single nucleotide variant not provided [RCV002927072] Chr10:67912568 [GRCh38]
Chr10:69672325 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.1916-9G>T single nucleotide variant SIRT1-related disorder [RCV003943761]|not provided [RCV003077988] Chr10:67916256 [GRCh38]
Chr10:69676013 [GRCh37]
Chr10:10q21.3		 benign|likely benign
NM_012238.5(SIRT1):c.1110T>C (p.Ser370=) single nucleotide variant not provided [RCV002918341] Chr10:67908065 [GRCh38]
Chr10:69667822 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.2109A>C (p.Glu703Asp) single nucleotide variant not provided [RCV002596057] Chr10:67916458 [GRCh38]
Chr10:69676215 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1358-10C>G single nucleotide variant not provided [RCV002573123] Chr10:67912464 [GRCh38]
Chr10:69672221 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.131T>A (p.Leu44His) single nucleotide variant not provided [RCV003548947]|not specified [RCV004208980] Chr10:67884852 [GRCh38]
Chr10:69644610 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1900A>G (p.Ser634Gly) single nucleotide variant not provided [RCV002872003] Chr10:67913016 [GRCh38]
Chr10:69672773 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.88G>A (p.Gly30Arg) single nucleotide variant not specified [RCV004083451] Chr10:67884809 [GRCh38]
Chr10:69644567 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.475T>C (p.Ser159Pro) single nucleotide variant not specified [RCV004245793] Chr10:67887461 [GRCh38]
Chr10:69647219 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.657A>T (p.Thr219=) single nucleotide variant not provided [RCV002632043] Chr10:67888991 [GRCh38]
Chr10:69648749 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.631C>A (p.Pro211Thr) single nucleotide variant not provided [RCV002675735] Chr10:67888965 [GRCh38]
Chr10:69648723 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.548-11C>T single nucleotide variant not provided [RCV002601202] Chr10:67888871 [GRCh38]
Chr10:69648629 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.1289A>G (p.Lys430Arg) single nucleotide variant not provided [RCV003777983]|not specified [RCV004180324] Chr10:67909374 [GRCh38]
Chr10:69669131 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.62A>G (p.Asp21Gly) single nucleotide variant not specified [RCV004221321] Chr10:67884783 [GRCh38]
Chr10:69644541 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.2066T>A (p.Met689Lys) single nucleotide variant not provided [RCV002714920] Chr10:67916415 [GRCh38]
Chr10:69676172 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1209G>A (p.Pro403=) single nucleotide variant not provided [RCV002962137] Chr10:67909294 [GRCh38]
Chr10:69669051 [GRCh37]
Chr10:10q21.3		 benign
NM_012238.5(SIRT1):c.1061C>T (p.Ala354Val) single nucleotide variant not provided [RCV002601423] Chr10:67906908 [GRCh38]
Chr10:69666665 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.2066T>G (p.Met689Arg) single nucleotide variant not provided [RCV003072576] Chr10:67916415 [GRCh38]
Chr10:69676172 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.548-10C>G single nucleotide variant not provided [RCV002584562] Chr10:67888872 [GRCh38]
Chr10:69648630 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.1784T>C (p.Met595Thr) single nucleotide variant not provided [RCV002943585] Chr10:67912900 [GRCh38]
Chr10:69672657 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.1022G>A (p.Arg341His) single nucleotide variant not provided [RCV003073160] Chr10:67906869 [GRCh38]
Chr10:69666626 [GRCh37]
Chr10:10q21.3		 benign
NM_012238.5(SIRT1):c.1255C>A (p.Pro419Thr) single nucleotide variant not specified [RCV004298606] Chr10:67909340 [GRCh38]
Chr10:69669097 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1417C>T (p.His473Tyr) single nucleotide variant not provided [RCV003565630]|not specified [RCV004249338] Chr10:67912533 [GRCh38]
Chr10:69672290 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.203C>G (p.Pro68Arg) single nucleotide variant not specified [RCV004257079] Chr10:67884924 [GRCh38]
Chr10:69644682 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.535A>G (p.Arg179Gly) single nucleotide variant not provided [RCV005101234]|not specified [RCV004251576] Chr10:67887521 [GRCh38]
Chr10:69647279 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_012238.5(SIRT1):c.1510C>A (p.Pro504Thr) single nucleotide variant not specified [RCV004354309] Chr10:67912626 [GRCh38]
Chr10:69672383 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1125A>C (p.Lys375Asn) single nucleotide variant not provided [RCV003875582] Chr10:67908080 [GRCh38]
Chr10:69667837 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1906C>T (p.Arg636Trp) single nucleotide variant not provided [RCV003873428] Chr10:67913022 [GRCh38]
Chr10:69672779 [GRCh37]
Chr10:10q21.3		 uncertain significance
GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1 copy number loss not provided [RCV003483092] Chr10:51735638..70791246 [GRCh37]
Chr10:10q11.23-22.1		 pathogenic
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
NM_012238.5(SIRT1):c.183_206dup (p.Ala72_Ala73insArgGlyCysProGlyAlaAlaAla) duplication not provided [RCV003417433] Chr10:67884903..67884904 [GRCh38]
Chr10:69644661..69644662 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.207T>G (p.Gly69=) single nucleotide variant not provided [RCV003417434] Chr10:67884928 [GRCh38]
Chr10:69644686 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.756G>A (p.Glu252=) single nucleotide variant not provided [RCV003829260] Chr10:67889090 [GRCh38]
Chr10:69648848 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.984A>G (p.Lys328=) single nucleotide variant not provided [RCV003849141] Chr10:67906831 [GRCh38]
Chr10:69666588 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.2099A>G (p.Asn700Ser) single nucleotide variant not provided [RCV003740127] Chr10:67916448 [GRCh38]
Chr10:69676205 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.69G>A (p.Glu23=) single nucleotide variant not provided [RCV003546346] Chr10:67884790 [GRCh38]
Chr10:69644548 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.438_440del (p.Leu147del) deletion not provided [RCV003575417] Chr10:67887422..67887424 [GRCh38]
Chr10:69647180..69647182 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1090+12T>G single nucleotide variant not provided [RCV003716598] Chr10:67906949 [GRCh38]
Chr10:69666706 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.1122dup (p.Lys375Ter) duplication not provided [RCV003577629] Chr10:67908076..67908077 [GRCh38]
Chr10:69667833..69667834 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.403GCG[4] (p.Ala139del) microsatellite SIRT1-related disorder [RCV003966487]|not provided [RCV003548812] Chr10:67885123..67885125 [GRCh38]
Chr10:69644881..69644883 [GRCh37]
Chr10:10q21.3		 likely benign|uncertain significance
NM_012238.5(SIRT1):c.353A>G (p.Asp118Gly) single nucleotide variant not provided [RCV003850425] Chr10:67885074 [GRCh38]
Chr10:69644832 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.543G>A (p.Arg181=) single nucleotide variant not provided [RCV003665549] Chr10:67887529 [GRCh38]
Chr10:69647287 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.372CGA[2] (p.Asp126_Asp127del) microsatellite not provided [RCV003579840] Chr10:67885091..67885096 [GRCh38]
Chr10:69644849..69644854 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.26T>C (p.Leu9Pro) single nucleotide variant not provided [RCV003668936] Chr10:67884747 [GRCh38]
Chr10:69644505 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.215C>T (p.Ala72Val) single nucleotide variant not provided [RCV003663805] Chr10:67884936 [GRCh38]
Chr10:69644694 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.109C>G (p.Pro37Ala) single nucleotide variant not provided [RCV003717286] Chr10:67884830 [GRCh38]
Chr10:69644588 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.23C>T (p.Ala8Val) single nucleotide variant not provided [RCV003840104] Chr10:67884744 [GRCh38]
Chr10:69644502 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1500T>G (p.Leu500=) single nucleotide variant not provided [RCV003817397] Chr10:67912616 [GRCh38]
Chr10:69672373 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.405G>A (p.Ala135=) single nucleotide variant not provided [RCV003725352] Chr10:67885126 [GRCh38]
Chr10:69644884 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.143C>T (p.Pro48Leu) single nucleotide variant not provided [RCV003558890] Chr10:67884864 [GRCh38]
Chr10:69644622 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1915+16G>A single nucleotide variant not provided [RCV003817296] Chr10:67913047 [GRCh38]
Chr10:69672804 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.15G>A (p.Ala5=) single nucleotide variant not provided [RCV003702279] Chr10:67884736 [GRCh38]
Chr10:69644494 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.44C>T (p.Pro15Leu) single nucleotide variant not provided [RCV003836758] Chr10:67884765 [GRCh38]
Chr10:69644523 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.219G>T (p.Ala73=) single nucleotide variant not provided [RCV003846342] Chr10:67884940 [GRCh38]
Chr10:69644698 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.47C>A (p.Ser16Ter) single nucleotide variant not provided [RCV003541820] Chr10:67884768 [GRCh38]
Chr10:69644526 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.2183A>C (p.Asn728Thr) single nucleotide variant not provided [RCV003842056] Chr10:67916532 [GRCh38]
Chr10:69676289 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.2063C>A (p.Pro688His) single nucleotide variant not provided [RCV003728435] Chr10:67916412 [GRCh38]
Chr10:69676169 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1231A>G (p.Ile411Val) single nucleotide variant not provided [RCV003844201] Chr10:67909316 [GRCh38]
Chr10:69669073 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1969G>A (p.Val657Ile) single nucleotide variant not provided [RCV003859454] Chr10:67916318 [GRCh38]
Chr10:69676075 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.557C>G (p.Thr186Ser) single nucleotide variant not provided [RCV003821120] Chr10:67888891 [GRCh38]
Chr10:69648649 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1497A>C (p.Lys499Asn) single nucleotide variant not provided [RCV003719503] Chr10:67912613 [GRCh38]
Chr10:69672370 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.357C>T (p.Asn119=) single nucleotide variant not provided [RCV003824395] Chr10:67885078 [GRCh38]
Chr10:69644836 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.492GGA[1] (p.Glu165del) microsatellite not provided [RCV003818725] Chr10:67887476..67887478 [GRCh38]
Chr10:69647234..69647236 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.735T>A (p.Asp245Glu) single nucleotide variant not provided [RCV003721943] Chr10:67889069 [GRCh38]
Chr10:69648827 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1605AGA[1] (p.Glu536del) microsatellite not provided [RCV003670780] Chr10:67912721..67912723 [GRCh38]
Chr10:69672478..69672480 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.2169T>A (p.Asp723Glu) single nucleotide variant not provided [RCV003857167] Chr10:67916518 [GRCh38]
Chr10:69676275 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.246GGC[5] (p.Ala86_Gly87insAla) microsatellite not provided [RCV003820999] Chr10:67884966..67884967 [GRCh38]
Chr10:69644724..69644725 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1907G>A (p.Arg636Gln) single nucleotide variant not provided [RCV003553595] Chr10:67913023 [GRCh38]
Chr10:69672780 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.42C>T (p.Ser14=) single nucleotide variant not provided [RCV003676285] Chr10:67884763 [GRCh38]
Chr10:69644521 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.11A>G (p.Glu4Gly) single nucleotide variant not provided [RCV003708882] Chr10:67884732 [GRCh38]
Chr10:69644490 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.210G>A (p.Ala70=) single nucleotide variant SIRT1-related disorder [RCV003959077] Chr10:67884931 [GRCh38]
Chr10:69644689 [GRCh37]
Chr10:10q21.3		 likely benign
NC_000010.11:g.(?_59792917)_(68231677_?)del deletion Intellectual developmental disorder, autosomal dominant 70 [RCV003883491] Chr10:59792917..68231677 [GRCh38]
Chr10:10q21.2-21.3		 likely pathogenic
NM_012238.5(SIRT1):c.1274C>G (p.Ala425Gly) single nucleotide variant not specified [RCV004455899] Chr10:67909359 [GRCh38]
Chr10:69669116 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1760A>T (p.Asn587Ile) single nucleotide variant not specified [RCV004455902] Chr10:67912876 [GRCh38]
Chr10:69672633 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.896T>C (p.Ile299Thr) single nucleotide variant not specified [RCV004455911] Chr10:67891508 [GRCh38]
Chr10:69651266 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.2098A>C (p.Asn700His) single nucleotide variant not specified [RCV004455905] Chr10:67916447 [GRCh38]
Chr10:69676204 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.142C>T (p.Pro48Ser) single nucleotide variant not specified [RCV004455900] Chr10:67884863 [GRCh38]
Chr10:69644621 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.2065A>T (p.Met689Leu) single nucleotide variant not specified [RCV004455904] Chr10:67916414 [GRCh38]
Chr10:69676171 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.2158G>A (p.Asp720Asn) single nucleotide variant not specified [RCV004455906] Chr10:67916507 [GRCh38]
Chr10:69676264 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.436C>G (p.Leu146Val) single nucleotide variant not specified [RCV004455909] Chr10:67887422 [GRCh38]
Chr10:69647180 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.578T>C (p.Met193Thr) single nucleotide variant not specified [RCV004455910] Chr10:67888912 [GRCh38]
Chr10:69648670 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1195C>T (p.Pro399Ser) single nucleotide variant not specified [RCV004455898] Chr10:67909280 [GRCh38]
Chr10:69669037 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1617T>G (p.Ser539Arg) single nucleotide variant not specified [RCV004455901] Chr10:67912733 [GRCh38]
Chr10:69672490 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.188C>T (p.Ala63Val) single nucleotide variant not specified [RCV004455903] Chr10:67884909 [GRCh38]
Chr10:69644667 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.300A>C (p.Glu100Asp) single nucleotide variant not specified [RCV004455907] Chr10:67885021 [GRCh38]
Chr10:69644779 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1565C>T (p.Ala522Val) single nucleotide variant not provided [RCV005087343] Chr10:67912681 [GRCh38]
Chr10:69672438 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.40T>G (p.Ser14Ala) single nucleotide variant not provided [RCV005196708] Chr10:67884761 [GRCh38]
Chr10:69644519 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.2030G>A (p.Ser677Asn) single nucleotide variant not specified [RCV004864333] Chr10:67916379 [GRCh38]
Chr10:69676136 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1655T>C (p.Ile552Thr) single nucleotide variant not specified [RCV004864334] Chr10:67912771 [GRCh38]
Chr10:69672528 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1325C>G (p.Ser442Cys) single nucleotide variant not specified [RCV004864335] Chr10:67909410 [GRCh38]
Chr10:69669167 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.829G>A (p.Asp277Asn) single nucleotide variant not specified [RCV004864337] Chr10:67891441 [GRCh38]
Chr10:69651199 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.2065A>G (p.Met689Val) single nucleotide variant not specified [RCV004864338] Chr10:67916414 [GRCh38]
Chr10:69676171 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1936C>A (p.Pro646Thr) single nucleotide variant not specified [RCV004864339] Chr10:67916285 [GRCh38]
Chr10:69676042 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1994T>A (p.Val665Asp) single nucleotide variant not specified [RCV004864340] Chr10:67916343 [GRCh38]
Chr10:69676100 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1151G>A (p.Arg384Gln) single nucleotide variant not provided [RCV005160845] Chr10:67908106 [GRCh38]
Chr10:69667863 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1810G>A (p.Gly604Ser) single nucleotide variant not provided [RCV005185485] Chr10:67912926 [GRCh38]
Chr10:69672683 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.231GGAGGC[1] (p.78EA[2]) microsatellite not provided [RCV005073144] Chr10:67884952..67884957 [GRCh38]
Chr10:69644710..69644715 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.37G>T (p.Gly13Cys) single nucleotide variant not provided [RCV005191073] Chr10:67884758 [GRCh38]
Chr10:69644516 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.235G>C (p.Ala79Pro) single nucleotide variant not provided [RCV005168873] Chr10:67884956 [GRCh38]
Chr10:69644714 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.913G>C (p.Asp305His) single nucleotide variant not provided [RCV005142797] Chr10:67891525 [GRCh38]
Chr10:69651283 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1980C>T (p.Asp660=) single nucleotide variant not provided [RCV005162784] Chr10:67916329 [GRCh38]
Chr10:69676086 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.58G>A (p.Ala20Thr) single nucleotide variant not provided [RCV005193913] Chr10:67884779 [GRCh38]
Chr10:69644537 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.2097C>T (p.Tyr699=) single nucleotide variant not provided [RCV005083856] Chr10:67916446 [GRCh38]
Chr10:69676203 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.1916-10T>C single nucleotide variant not provided [RCV005069626] Chr10:67916255 [GRCh38]
Chr10:69676012 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.1090+16A>G single nucleotide variant not provided [RCV005131036] Chr10:67906953 [GRCh38]
Chr10:69666710 [GRCh37]
Chr10:10q21.3		 likely benign
NM_012238.5(SIRT1):c.301G>A (p.Gly101Arg) single nucleotide variant not provided [RCV005185245] Chr10:67885022 [GRCh38]
Chr10:69644780 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1246G>C (p.Glu416Gln) single nucleotide variant not specified [RCV005279347] Chr10:67909331 [GRCh38]
Chr10:69669088 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1958A>G (p.His653Arg) single nucleotide variant not specified [RCV004669931] Chr10:67916307 [GRCh38]
Chr10:69676064 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.182C>T (p.Pro61Leu) single nucleotide variant not specified [RCV005279344] Chr10:67884903 [GRCh38]
Chr10:69644661 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1078A>G (p.Ile360Val) single nucleotide variant not specified [RCV005279345] Chr10:67906925 [GRCh38]
Chr10:69666682 [GRCh37]
Chr10:10q21.3		 uncertain significance
NM_012238.5(SIRT1):c.1783A>G (p.Met595Val) single nucleotide variant not specified [RCV005279346] Chr10:67912899 [GRCh38]
Chr10:69672656 [GRCh37]
Chr10:10q21.3		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR128-1hsa-miR-128-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23492773
MIR449Ahsa-miR-449aMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI21418558
MIR181A2hsa-miR-181a-5pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assay//qRT-PCRFunctional MTI22476949
MIR181A2hsa-miR-181a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22228303
MIR217hsa-miR-217Mirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19786632
MIR124-2hsa-miR-124-3pTarbaseexternal_infoqPCRNEGATIVE
MIR200Ahsa-miR-200a-3pOncomiRDBexternal_infoNANA21596753
MIR181B2hsa-miR-181b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22228303
MIR199A1hsa-miR-199a-5pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI23760629
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoWestern blot//qRT-PCR//Luciferase reporter assayFunctional MTI18834855
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoWestern blot//Luciferase reporter assay//Northern Functional MTI18755897
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blot//Functional MTI20185821
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19221490
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blot//Functional MTI20627091
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoFlow//Luciferase reporter assay//qRT-PCR//Western Functional MTI20470934
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoimmunohistochemistry//Microarray//qRT-PCR//WesternFunctional MTI19167416
MIR181B1hsa-miR-181b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22228303
MIR34Ahsa-miR-34a-5pTarbaseexternal_infoqPCRNEGATIVE
MIR34Ahsa-miR-34a-5pOncomiRDBexternal_infoNANA20687223
MIR34Ahsa-miR-34a-5pOncomiRDBexternal_infoNANA20470934
MIR34Ahsa-miR-34a-5pOncomiRDBexternal_infoNANA18834855
MIR34Ahsa-miR-34a-5pOncomiRDBexternal_infoNANA18755897
MIR34Ahsa-miR-34a-3pMirecordsexternal_infoNANA18755897
MIR216Ahsa-miR-216a-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotNon-Functional MTI19786632
MIR138-2hsa-miR-138-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22228303
MIR181A1hsa-miR-181a-5pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assay//qRT-PCRFunctional MTI22476949
MIR181A1hsa-miR-181a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22228303
MIR132hsa-miR-132-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19819989
MIR138-1hsa-miR-138-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22228303

Predicted Target Of
Summary Value
Count of predictions:2780
Count of miRNA genes:505
Interacting mature miRNAs:598
Transcripts:ENST00000212015, ENST00000403579, ENST00000406900, ENST00000432464, ENST00000473922, ENST00000497639
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597611734GWAS1668594_Htooth disease QTL GWAS1668594 (human)8e-14tooth disease106789356267893563Human
597258531GWAS1354605_Hatrial fibrillation QTL GWAS1354605 (human)4e-08atrial fibrillation106790512467905125Human
597227463GWAS1323537_Hatrial fibrillation QTL GWAS1323537 (human)5e-08atrial fibrillation106790512467905125Human

Markers in Region
SIRT1_1810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371069,677,540 - 69,678,251UniSTSGRCh37
Build 361069,347,546 - 69,348,257RGDNCBI36
Celera1062,952,409 - 62,953,120RGD
HuRef1063,677,124 - 63,677,835UniSTS
RH66167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371069,677,753 - 69,677,913UniSTSGRCh37
Build 361069,347,759 - 69,347,919RGDNCBI36
Celera1062,952,622 - 62,952,782RGD
Cytogenetic Map10q21.3UniSTS
HuRef1063,677,337 - 63,677,497UniSTS
GeneMap99-GB4 RH Map10369.45UniSTS
NCBI RH Map10863.6UniSTS
STS-H98832  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371069,676,897 - 69,677,048UniSTSGRCh37
Build 361069,346,903 - 69,347,054RGDNCBI36
Celera1062,951,766 - 62,951,917RGD
Cytogenetic Map10q21.3UniSTS
HuRef1063,676,481 - 63,676,632UniSTS
GeneMap99-GB4 RH Map10368.06UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_050664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA452304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF083106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF235040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS330050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS417193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS545584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB162635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ278604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM718527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ768366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP422523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000212015   ⟹   ENSP00000212015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1067,884,656 - 67,918,390 (+)Ensembl
Ensembl Acc Id: ENST00000403579   ⟹   ENSP00000384063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1067,906,050 - 67,918,386 (+)Ensembl
Ensembl Acc Id: ENST00000406900   ⟹   ENSP00000384508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1067,891,484 - 67,918,390 (+)Ensembl
Ensembl Acc Id: ENST00000432464   ⟹   ENSP00000409208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1067,885,181 - 67,918,389 (+)Ensembl
Ensembl Acc Id: ENST00000473922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1067,885,184 - 67,906,879 (+)Ensembl
Ensembl Acc Id: ENST00000497639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1067,885,181 - 67,891,496 (+)Ensembl
RefSeq Acc Id: NM_001142498   ⟹   NP_001135970
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381067,885,181 - 67,918,390 (+)NCBI
GRCh371069,644,427 - 69,678,147 (+)ENTREZGENE
HuRef1063,643,871 - 63,677,731 (+)ENTREZGENE
CHM1_11069,926,916 - 69,960,153 (+)NCBI
T2T-CHM13v2.01068,753,926 - 68,787,131 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001314049   ⟹   NP_001300978
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381067,885,181 - 67,918,384 (+)NCBI
CHM1_11069,933,136 - 69,960,153 (+)NCBI
T2T-CHM13v2.01068,753,926 - 68,787,125 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012238   ⟹   NP_036370
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381067,884,656 - 67,918,390 (+)NCBI
GRCh371069,644,427 - 69,678,147 (+)ENTREZGENE
Build 361069,314,433 - 69,348,149 (+)NCBI Archive
HuRef1063,643,871 - 63,677,731 (+)ENTREZGENE
CHM1_11069,926,404 - 69,960,153 (+)NCBI
T2T-CHM13v2.01068,753,401 - 68,787,131 (+)NCBI
Sequence:
RefSeq Acc Id: NP_036370   ⟸   NM_012238
- Peptide Label: isoform a
- UniProtKB: Q9GZR9 (UniProtKB/Swiss-Prot),   Q5JVQ0 (UniProtKB/Swiss-Prot),   Q2XNF6 (UniProtKB/Swiss-Prot),   Q9Y6F0 (UniProtKB/Swiss-Prot),   Q96EB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135970   ⟸   NM_001142498
- Peptide Label: isoform b
- UniProtKB: A8K128 (UniProtKB/TrEMBL),   E9PC49 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001300978   ⟸   NM_001314049
- Peptide Label: isoform c
- UniProtKB: B0QZ35 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000384063   ⟸   ENST00000403579
Ensembl Acc Id: ENSP00000384508   ⟸   ENST00000406900
Ensembl Acc Id: ENSP00000409208   ⟸   ENST00000432464
Ensembl Acc Id: ENSP00000212015   ⟸   ENST00000212015
Protein Domains
Deacetylase sirtuin-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96EB6-F1-model_v2 AlphaFold Q96EB6 1-747 view protein structure

Promoters
RGD ID:7217681
Promoter ID:EPDNEW_H14586
Type:initiation region
Name:SIRT1_1
Description:sirtuin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381067,884,656 - 67,884,716EPDNEW
RGD ID:6788261
Promoter ID:HG_KWN:9781
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001142498,   OTTHUMT00000048296,   OTTHUMT00000319331,   OTTHUMT00000319332,   UC009XPP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361069,314,356 - 69,315,027 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14929 AgrOrtholog
COSMIC SIRT1 COSMIC
Ensembl Genes ENSG00000096717 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000212015 ENTREZGENE
  ENST00000212015.11 UniProtKB/Swiss-Prot
  ENST00000406900 ENTREZGENE
  ENST00000432464 ENTREZGENE
Gene3D-CATH 3.30.1600.10 UniProtKB/Swiss-Prot
  TPP-binding domain UniProtKB/Swiss-Prot
GTEx ENSG00000096717 GTEx
HGNC ID HGNC:14929 ENTREZGENE
Human Proteome Map SIRT1 Human Proteome Map
InterPro DHS-like_NAD/FAD-binding_dom UniProtKB/Swiss-Prot
  NAD-dep_sirtuin_deacylases UniProtKB/Swiss-Prot
  Sirtuin UniProtKB/Swiss-Prot
  Sirtuin_cat_small_dom_sf UniProtKB/Swiss-Prot
  Ssirtuin_cat_dom UniProtKB/Swiss-Prot
KEGG Report hsa:23411 UniProtKB/Swiss-Prot
NCBI Gene 23411 ENTREZGENE
OMIM 604479 OMIM
PANTHER NAD-DEPENDENT PROTEIN DEACETYLASE SIRTUIN-1 UniProtKB/Swiss-Prot
  NAD-DEPENDENT PROTEIN DEACYLASE SIRTUIN-5, MITOCHONDRIAL-RELATED UniProtKB/Swiss-Prot
Pfam SIR2 UniProtKB/Swiss-Prot
PharmGKB PA37935 PharmGKB
PROSITE SIRTUIN UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52467 UniProtKB/Swiss-Prot
UniProt A8K128 ENTREZGENE, UniProtKB/TrEMBL
  B0QZ35 ENTREZGENE, UniProtKB/TrEMBL
  E9PC49 ENTREZGENE, UniProtKB/TrEMBL
  I1Y8W7_HUMAN UniProtKB/TrEMBL
  Q2XNF6 ENTREZGENE
  Q5JVQ0 ENTREZGENE
  Q96EB6 ENTREZGENE
  Q9GZR9 ENTREZGENE
  Q9Y6F0 ENTREZGENE
  SIR1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q2XNF6 UniProtKB/Swiss-Prot
  Q5JVQ0 UniProtKB/Swiss-Prot
  Q9GZR9 UniProtKB/Swiss-Prot
  Q9Y6F0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 SIRT1  sirtuin 1  SIRT1  sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED