Tsc1 (TSC complex subunit 1) - Rat Genome Database

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Gene: Tsc1 (TSC complex subunit 1) Mus musculus
Analyze
Symbol: Tsc1
Name: TSC complex subunit 1
RGD ID: 733994
MGI Page MGI
Description: Enables ATPase inhibitor activity. Involved in associative learning and protein stabilization. Acts upstream of or within several processes, including memory T cell differentiation; negative regulation of cell size; and nervous system development. Located in cytoplasm. Is active in postsynaptic density. Is expressed in several structures, including central nervous system; genitourinary system; hepatic primordium; liver; and retina. Used to study anterior segment dysgenesis; autism spectrum disorder; autosomal recessive polycystic kidney disease; spinal disease; and tuberous sclerosis. Human ortholog(s) of this gene implicated in intellectual disability; lymphangioleiomyomatosis; tuberous sclerosis; and tuberous sclerosis 1. Orthologous to human TSC1 (TSC complex subunit 1).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ham; hamartin; mKIAA0243; tuberous sclerosis 1; tuberous sclerosis 1 protein homolog
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39228,531,005 - 28,581,183 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl228,531,240 - 28,581,179 (+)EnsemblGRCm39 Ensembl
GRCm38228,640,993 - 28,691,172 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl228,641,228 - 28,691,167 (+)EnsemblGRCm38mm10GRCm38
MGSCv37228,496,763 - 28,546,687 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36228,463,252 - 28,513,176 (+)NCBIMGSCv36mm8
Celera228,345,749 - 28,395,673 (+)NCBICelera
Cytogenetic Map2A3NCBI
cM Map219.38NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of GTPase activity  (ISO)
adaptive immune response  (IMP)
adult locomotory behavior  (ISO)
associative learning  (IMP)
cardiac muscle cell differentiation  (IMP)
cell population proliferation  (IMP)
cell projection organization  (IMP)
cell-matrix adhesion  (ISO)
cellular response to decreased oxygen levels  (ISO)
cellular response to starvation  (ISO)
cerebral cortex development  (IMP)
D-glucose import  (IMP)
hippocampus development  (IMP)
kidney development  (IMP)
memory T cell differentiation  (IMP)
myelination  (IMP)
negative regulation of ATP-dependent activity  (IMP,ISO)
negative regulation of cell population proliferation  (IBA,IMP,ISO)
negative regulation of cell size  (IGI,IMP)
negative regulation of cellular response to oxidative stress  (ISO)
negative regulation of GTPase activity  (ISO)
negative regulation of macroautophagy  (ISO)
negative regulation of neuron projection development  (ISO)
negative regulation of TOR signaling  (IBA,ISO)
negative regulation of TORC1 signaling  (ISO)
negative regulation of translation  (ISO)
nervous system development  (IMP)
neural tube closure  (IMP)
obsolete regulation of phosphoprotein phosphatase activity  (ISO)
positive regulation of focal adhesion assembly  (ISO)
positive regulation of macroautophagy  (ISO)
positive regulation of stress fiber assembly  (ISO)
potassium ion transport  (IGI,IMP)
protein stabilization  (IMP,ISO)
regulation of cell cycle  (IBA)
regulation of cell-matrix adhesion  (ISO)
regulation of focal adhesion assembly  (ISO)
regulation of protein kinase activity  (IGI)
regulation of stress fiber assembly  (ISO)
regulation of translation  (ISO)
response to insulin  (ISO)
response to nutrient levels  (ISO)
response to peptide  (ISO)
ribosomal subunit export from nucleus  (ISO)
synapse organization  (IMP)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal annulus fibrosus morphology  (IAGP)
abnormal anterior eye segment morphology  (IAGP)
abnormal associative learning  (IAGP)
abnormal astrocyte physiology  (IAGP)
abnormal atrial thrombosis  (IAGP)
abnormal behavior  (IAGP)
abnormal body size  (IAGP)
abnormal brain morphology  (IAGP)
abnormal brain ventricle morphology  (IAGP)
abnormal brain wave pattern  (IAGP)
abnormal cerebellar Purkinje cell layer  (IAGP)
abnormal cerebral cortex morphology  (IAGP)
abnormal chest morphology  (IAGP)
abnormal ciliary body morphology  (IAGP)
abnormal ciliary epithelium morphology  (IAGP)
abnormal compact bone thickness  (IAGP)
abnormal contextual conditioning behavior  (IAGP)
abnormal cornea morphology  (IAGP)
abnormal costal cartilage morphology  (IAGP)
abnormal cued conditioning behavior  (IAGP)
abnormal dendrite morphology  (IAGP)
abnormal dentate gyrus morphology  (IAGP)
abnormal eye anterior chamber morphology  (IAGP)
abnormal eye development  (IAGP)
abnormal fetal cardiomyocyte morphology  (IAGP)
abnormal hepatocyte morphology  (IAGP)
abnormal hepatocyte physiology  (IAGP)
abnormal hippocampus pyramidal cell layer  (IAGP)
abnormal hippocampus pyramidal cell morphology  (IAGP)
abnormal hippocampus region morphology  (IAGP)
abnormal homeostasis  (IAGP)
abnormal intervertebral disk development  (IAGP)
abnormal intervertebral disk morphology  (IAGP)
abnormal involuntary movement  (IAGP)
abnormal iris morphology  (IAGP)
abnormal iris pigment epithelium  (IAGP)
abnormal learning/memory/conditioning  (IAGP)
abnormal limb posture  (IAGP)
abnormal liver physiology  (IAGP)
abnormal myelination  (IAGP)
abnormal myocardial fiber morphology  (IAGP)
abnormal myometrium morphology  (IAGP)
abnormal neocortex morphology  (IAGP)
abnormal nervous system morphology  (IAGP)
abnormal nervous system physiology  (IAGP)
abnormal neuron differentiation  (IAGP)
abnormal neuron morphology  (IAGP)
abnormal oocyte morphology  (IAGP)
abnormal optic cup morphology  (IAGP)
abnormal ovarian follicle morphology  (IAGP)
abnormal ovary physiology  (IAGP)
abnormal oviduct morphology  (IAGP)
abnormal posterior eye segment morphology  (IAGP)
abnormal postnatal subventricular zone morphology  (IAGP)
abnormal preimplantation embryo development  (IAGP)
abnormal Purkinje cell axon morphology  (IAGP)
abnormal Purkinje cell dendrite morphology  (IAGP)
abnormal Purkinje cell morphology  (IAGP)
abnormal response to novel odor  (IAGP)
abnormal retina morphology  (IAGP)
abnormal retina vasculature morphology  (IAGP)
abnormal rib morphology  (IAGP)
abnormal seminiferous tubule epithelium morphology  (IAGP)
abnormal seminiferous tubule morphology  (IAGP)
abnormal Sertoli cell morphology  (IAGP)
abnormal sexual interaction  (IAGP)
abnormal single cell response  (IAGP)
abnormal social investigation  (IAGP)
abnormal spatial learning  (IAGP)
abnormal spermatogenesis  (IAGP)
abnormal spine curvature  (IAGP)
abnormal testis morphology  (IAGP)
abnormal trabecular bone morphology  (IAGP)
abnormal tumor morphology  (IAGP)
absent nucleus pulposus  (IAGP)
astrocytosis  (IAGP)
ataxia  (IAGP)
cachexia  (IAGP)
decreased anxiety-related response  (IAGP)
decreased body length  (IAGP)
decreased body size  (IAGP)
decreased body temperature  (IAGP)
decreased body weight  (IAGP)
decreased cardiac muscle contractility  (IAGP)
decreased circulating ketone body level  (IAGP)
decreased circulating triglyceride level  (IAGP)
decreased embryo size  (IAGP)
decreased fetal size  (IAGP)
decreased locomotor activity  (IAGP)
decreased male germ cell number  (IAGP)
decreased primordial ovarian follicle number  (IAGP)
decreased Purkinje cell number  (IAGP)
decreased testis weight  (IAGP)
dilated cardiomyopathy  (IAGP)
dilated oviduct  (IAGP)
edema  (IAGP)
embryonic growth retardation  (IAGP)
embryonic lethality during organogenesis, complete penetrance  (IAGP)
endometrium hyperplasia  (IAGP)
enlarged heart  (IAGP)
enlarged lateral ventricles  (IAGP)
enlarged liver  (IAGP)
excessive vocalization  (IAGP)
exencephaly  (IAGP)
failure of embryo implantation  (IAGP)
female infertility  (IAGP)
fetal cardiomyocyte vacuoles  (IAGP)
fetal growth retardation  (IAGP)
hemorrhagic ascites  (IAGP)
hunched posture  (IAGP)
hydrocephaly  (IAGP)
hydrops fetalis  (IAGP)
hyperactivity  (IAGP)
hyporesponsive to tactile stimuli  (IAGP)
impaired coordination  (IAGP)
impaired glucose tolerance  (IAGP)
impaired ovarian folliculogenesis  (IAGP)
impaired swimming  (IAGP)
increased angiogenesis  (IAGP)
increased atretic ovarian follicle number  (IAGP)
increased brain size  (IAGP)
increased brain weight  (IAGP)
increased circulating follicle stimulating hormone level  (IAGP)
increased circulating luteinizing hormone level  (IAGP)
increased embryonic tissue cell apoptosis  (IAGP)
increased extremity angiosarcoma incidence  (IAGP)
increased grooming behavior  (IAGP)
increased hemangioma incidence  (IAGP)
increased hemangiosarcoma incidence  (IAGP)
increased hepatic hemangioma incidence  (IAGP)
increased incidence of tumors by chemical induction  (IAGP)
increased leiomyosarcoma incidence  (IAGP)
increased liver tumor incidence  (IAGP)
increased mesothelioma incidence  (IAGP)
increased metastatic potential  (IAGP)
increased myocardial fiber size  (IAGP)
increased neuron apoptosis  (IAGP)
increased renal carcinoma incidence  (IAGP)
increased renal cystadenoma incidence  (IAGP)
increased Sertoli cell proliferation  (IAGP)
increased startle reflex  (IAGP)
increased tumor incidence  (IAGP)
increased uterus leiomyoma incidence  (IAGP)
increased vertical activity  (IAGP)
insulin resistance  (IAGP)
iris hypoplasia  (IAGP)
kidney cyst  (IAGP)
kidney epithelium hyperplasia  (IAGP)
kyphosis  (IAGP)
lethality throughout fetal growth and development, complete penetrance  (IAGP)
limb grasping  (IAGP)
liver hypoplasia  (IAGP)
mydriasis  (IAGP)
neonatal lethality, incomplete penetrance  (IAGP)
neuron hypertrophy  (IAGP)
oocyte degeneration  (IAGP)
open neural tube  (IAGP)
pallor  (IAGP)
pericardial effusion  (IAGP)
polycystic kidney  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
premature death  (IAGP)
premature ovarian failure  (IAGP)
prolonged estrus  (IAGP)
pulmonary vascular congestion  (IAGP)
reduced female fertility  (IAGP)
reduced long-term potentiation  (IAGP)
seizures  (IAGP)
short diestrus  (IAGP)
short stride length  (IAGP)
slow postnatal weight gain  (IAGP)
small intervertebral disk  (IAGP)
small testis  (IAGP)
small vertebrae  (IAGP)
spinal stenosis  (IAGP)
sporadic seizures  (IAGP)
straub tail  (IAGP)
tremors  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Regulation of mTORC1 by PI3K signaling. Dibble CC and Cantley LC, Trends Cell Biol. 2015 Sep;25(9):545-55. doi: 10.1016/j.tcb.2015.06.002. Epub 2015 Jul 6.
2. Neurogenin 3-directed cre deletion of Tsc1 gene causes pancreatic acinar carcinoma. Ding L, etal., Neoplasia. 2014 Nov 20;16(11):909-17. doi: 10.1016/j.neo.2014.08.010. eCollection 2014 Nov.
3. Mouse scrapie responsive gene 1 (Scrg1): genomic organization, physical linkage to sap30, genetic mapping on chromosome 8, and expression in neuronal primary cell cultures. Dron M, etal., Genomics 2000 Nov 15;70(1):140-9.
4. Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice. Feliciano DM, etal., J Clin Invest. 2011 Apr;121(4):1596-607. doi: 10.1172/JCI44909. Epub 2011 Mar 14.
5. The preventive effect of liraglutide on the lipotoxic liver injury via increasing autophagy. He Y, etal., Ann Hepatol. 2020 Jan - Feb;19(1):44-52. doi: 10.1016/j.aohep.2019.06.023. Epub 2019 Sep 24.
6. Tuberin and hamartin are aberrantly expressed and linked to clinical outcome in human breast cancer: the role of promoter methylation of TSC genes. Jiang WG, etal., Eur J Cancer. 2005 Jul;41(11):1628-36.
7. A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice. Kobayashi T, etal., Proc Natl Acad Sci U S A. 2001 Jul 17;98(15):8762-7. Epub 2001 Jul 3.
8. TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity. Liang MC, etal., Oncogene. 2010 Mar 18;29(11):1588-97. doi: 10.1038/onc.2009.452. Epub 2009 Dec 7.
9. Molecular mechanisms of mTOR-mediated translational control. Ma XM and Blenis J, Nat Rev Mol Cell Biol. 2009 May;10(5):307-18. Epub 2009 Apr 2.
10. Role of insulin, adipocyte hormones, and nutrient-sensing pathways in regulating fuel metabolism and energy homeostasis: a nutritional perspective of diabetes, obesity, and cancer. Marshall S Sci STKE. 2006 Aug 1;2006(346):re7.
11. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
12. MGD IEA MGD IEA
13. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
16. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
17. Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model. Prabhakar S, etal., Neurobiol Dis. 2015 Oct;82:22-31. doi: 10.1016/j.nbd.2015.04.018. Epub 2015 May 24.
18. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. Rendtorff ND, etal., Hum Mutat. 2005 Oct;26(4):374-83.
19. Mouse MP Annotation Import Pipeline RGD automated import pipeline
20. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
22. Inappropriate activation of the TSC/Rheb/mTOR/S6K cassette induces IRS1/2 depletion, insulin resistance, and cell survival deficiencies. Shah OJ, etal., Curr Biol. 2004 Sep 21;14(18):1650-6.
23. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. van Slegtenhorst M, etal., Science. 1997 Aug 8;277(5327):805-8.
24. Frequent loss of chromosome 9, homozygous CDKN2A/p14(ARF)/CDKN2B deletion and low TSC1 mRNA expression in pleomorphic xanthoastrocytomas. Weber RG, etal., Oncogene. 2007 Feb 15;26(7):1088-97. Epub 2006 Aug 7.
25. Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins. Wong HT, etal., J Med Genet. 2015 Dec;52(12):815-22. doi: 10.1136/jmedgenet-2015-103154. Epub 2015 Sep 25.
26. [Tsc1 promoter methylation rate, mTOR expression in food-induced obese rat hypothalamus]. Zhang L, etal., Sichuan Da Xue Xue Bao Yi Xue Ban. 2015 Jan;46(1):47-50.
27. TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex. Zhang Y, etal., Neuromolecular Med. 2015 Jun;17(2):202-8. doi: 10.1007/s12017-015-8354-x. Epub 2015 Apr 22.
Additional References at PubMed
PMID:8889548   PMID:10349636   PMID:10806479   PMID:10922068   PMID:11042159   PMID:11076861   PMID:11130985   PMID:11217851   PMID:11290735   PMID:11729236   PMID:11741832   PMID:11875047  
PMID:12037687   PMID:12205640   PMID:12477932   PMID:12520002   PMID:12693553   PMID:12891680   PMID:14561707   PMID:14572449   PMID:14610273   PMID:14993219   PMID:14999811   PMID:15185396  
PMID:15226823   PMID:15249583   PMID:15545625   PMID:15601645   PMID:15664737   PMID:15781664   PMID:15851742   PMID:15888477   PMID:16141072   PMID:16141073   PMID:16267007   PMID:16286931  
PMID:16288003   PMID:16393152   PMID:16602821   PMID:16912167   PMID:16944949   PMID:16959613   PMID:17015619   PMID:17244624   PMID:17245776   PMID:17251353   PMID:17273797   PMID:17274640  
PMID:17355907   PMID:17484760   PMID:17522300   PMID:17562867   PMID:17658474   PMID:17714952   PMID:17962806   PMID:18067135   PMID:18342602   PMID:18389497   PMID:18411301   PMID:18495876  
PMID:18511518   PMID:18568033   PMID:18664580   PMID:18692468   PMID:18724376   PMID:18794346   PMID:18799693   PMID:18809716   PMID:18845692   PMID:18949383   PMID:19047368   PMID:19052232  
PMID:19150975   PMID:19211884   PMID:19321600   PMID:19356717   PMID:19357198   PMID:19385061   PMID:19420259   PMID:19620286   PMID:19690069   PMID:19692352   PMID:19843540   PMID:19934433  
PMID:20045054   PMID:20371605   PMID:20412061   PMID:20427478   PMID:20498714   PMID:20616807   PMID:20622121   PMID:20933441   PMID:20940396   PMID:21062901   PMID:21075312   PMID:21179166  
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PMID:21941369   PMID:22021912   PMID:22025691   PMID:22055460   PMID:22056141   PMID:22064482   PMID:22068588   PMID:22128018   PMID:22198573   PMID:22362037   PMID:22363451   PMID:22412198  
PMID:22426206   PMID:22457330   PMID:22466652   PMID:22674026   PMID:22763451   PMID:22791749   PMID:22795129   PMID:22798074   PMID:22884327   PMID:22891340   PMID:22916036   PMID:23049940  
PMID:23136410   PMID:23142078   PMID:23143994   PMID:23152448   PMID:23178128   PMID:23228442   PMID:23250422   PMID:23315073   PMID:23335988   PMID:23349360   PMID:23355874   PMID:23376645  
PMID:23429704   PMID:23437388   PMID:23475984   PMID:23602450   PMID:23623684   PMID:23661807   PMID:23664552   PMID:23664616   PMID:23665200   PMID:23666760   PMID:23696872   PMID:23744272  
PMID:23749404   PMID:23774212   PMID:23776173   PMID:23851502   PMID:23882125   PMID:24065881   PMID:24077282   PMID:24096482   PMID:24129405   PMID:24170201   PMID:24203997   PMID:24209762  
PMID:24227713   PMID:24270422   PMID:24275666   PMID:24280772   PMID:24282297   PMID:24333417   PMID:24368778   PMID:24532578   PMID:24570486   PMID:24574959   PMID:24576459   PMID:24599401  
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PMID:28637240   PMID:28671696   PMID:28694334   PMID:28701517   PMID:28746872   PMID:28880149   PMID:28882883   PMID:28930662   PMID:28974424   PMID:29023667   PMID:29035283   PMID:29056426  
PMID:29127155   PMID:29133867   PMID:29184052   PMID:29184200   PMID:29215029   PMID:29220665   PMID:29222328   PMID:29232555   PMID:29294307   PMID:29358671   PMID:29389670   PMID:29396625  
PMID:29401631   PMID:29461205   PMID:29466735   PMID:29478893   PMID:29483507   PMID:29522719   PMID:29562234   PMID:29581096   PMID:29669786   PMID:29722913   PMID:29784808   PMID:29847794  
PMID:29875165   PMID:29897930   PMID:29898392   PMID:29924882   PMID:29950673   PMID:30067967   PMID:30134066   PMID:30141265   PMID:30144045   PMID:30145794   PMID:30185506   PMID:30247156  
PMID:30266297   PMID:30271915   PMID:30304677   PMID:30305629   PMID:30412050   PMID:30467464   PMID:30540938   PMID:30683131   PMID:30696882   PMID:30733194   PMID:30760873   PMID:30867823  
PMID:31088250   PMID:31088907   PMID:31125447   PMID:31130466   PMID:31263418   PMID:31289211   PMID:31292548   PMID:31320633   PMID:31353861   PMID:31433805   PMID:31506280   PMID:31519824  
PMID:31527310   PMID:31534053   PMID:31552299   PMID:31668132   PMID:31676673   PMID:31676823   PMID:31742557   PMID:31754457   PMID:31780742   PMID:31865844   PMID:31896747   PMID:31919282  
PMID:31961824   PMID:32001717   PMID:32039915   PMID:32043969   PMID:32133736   PMID:32309432   PMID:32325033   PMID:32363190   PMID:32375878   PMID:32434914   PMID:32464093   PMID:32484794  
PMID:32554809   PMID:32577608   PMID:32579942   PMID:32581239   PMID:32661395   PMID:32721041   PMID:32726607   PMID:32726619   PMID:32739207   PMID:32866472   PMID:32908143   PMID:32927859  
PMID:33071758   PMID:33207246   PMID:33352197   PMID:33508145   PMID:33536341   PMID:33597177   PMID:33767704   PMID:33887198   PMID:33951440   PMID:33957945   PMID:33968030   PMID:34135321  
PMID:34135323   PMID:34146544   PMID:34193412   PMID:34258163   PMID:34259631   PMID:34310634   PMID:34321999   PMID:34325132   PMID:34348664   PMID:34365025   PMID:34380034   PMID:34463540  
PMID:34496251   PMID:34535574   PMID:34677125   PMID:34732708   PMID:34777691   PMID:34870542   PMID:34877936   PMID:34964695   PMID:35190469   PMID:35279205   PMID:35420934   PMID:35440545  
PMID:35526258   PMID:35584673   PMID:35645731   PMID:35858542   PMID:35939707   PMID:35945201   PMID:36044577   PMID:36082078   PMID:36114006   PMID:36120601   PMID:36250465   PMID:36357396  
PMID:36398408   PMID:36400009   PMID:36509146   PMID:36526657   PMID:36547785   PMID:36627370   PMID:36813768   PMID:36982451   PMID:36999531   PMID:37001042   PMID:37036444   PMID:37142655  
PMID:37171398   PMID:37494420   PMID:37665675   PMID:37688912   PMID:37738689   PMID:37804830   PMID:37852976   PMID:37967531   PMID:38411613   PMID:38499523   PMID:38531868   PMID:38820148  


Genomics

Comparative Map Data
Tsc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39228,531,005 - 28,581,183 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl228,531,240 - 28,581,179 (+)EnsemblGRCm39 Ensembl
GRCm38228,640,993 - 28,691,172 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl228,641,228 - 28,691,167 (+)EnsemblGRCm38mm10GRCm38
MGSCv37228,496,763 - 28,546,687 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36228,463,252 - 28,513,176 (+)NCBIMGSCv36mm8
Celera228,345,749 - 28,395,673 (+)NCBICelera
Cytogenetic Map2A3NCBI
cM Map219.38NCBI
TSC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389132,891,349 - 132,945,378 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9132,891,348 - 132,946,874 (-)EnsemblGRCh38hg38GRCh38
GRCh379135,766,736 - 135,820,003 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369134,756,557 - 134,809,841 (-)NCBINCBI36Build 36hg18NCBI36
Build 349132,815,940 - 132,849,574NCBI
Celera9106,308,473 - 106,361,761 (-)NCBICelera
Cytogenetic Map9q34.13NCBI
HuRef9105,260,658 - 105,313,711 (-)NCBIHuRef
CHM1_19135,917,213 - 135,970,447 (-)NCBICHM1_1
T2T-CHM13v2.09145,103,162 - 145,157,190 (-)NCBIT2T-CHM13v2.0
Tsc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8332,367,434 - 32,416,565 (+)NCBIGRCr8
mRatBN7.2311,969,547 - 12,018,591 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl311,979,729 - 12,015,674 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx315,059,218 - 15,086,859 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0323,644,177 - 23,671,817 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0321,898,622 - 21,926,266 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.037,219,955 - 7,269,063 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl37,237,192 - 7,265,145 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0312,570,765 - 12,619,753 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.437,645,313 - 7,672,944 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.137,645,612 - 7,673,244 (+)NCBI
Celera36,767,562 - 6,795,193 (+)NCBICelera
Cytogenetic Map3p12NCBI
Tsc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555132,197,037 - 2,244,992 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555132,197,037 - 2,244,992 (-)NCBIChiLan1.0ChiLan1.0
TSC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2116,414,619 - 6,468,611 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan196,415,528 - 6,470,948 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09104,007,708 - 104,060,938 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19132,638,003 - 132,692,264 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9132,638,003 - 132,675,759 (-)Ensemblpanpan1.1panPan2
TSC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1951,409,307 - 51,459,546 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl951,425,937 - 51,454,677 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha950,673,940 - 50,724,548 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0952,304,134 - 52,354,724 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl952,304,753 - 52,354,693 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1951,082,516 - 51,133,112 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0951,407,015 - 51,457,594 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0951,486,514 - 51,537,117 (+)NCBIUU_Cfam_GSD_1.0
Tsc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947199,562,656 - 199,618,374 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648719,331,194 - 19,386,892 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648719,331,183 - 19,386,841 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TSC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1272,636,532 - 272,685,951 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11272,636,530 - 272,685,948 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21306,795,196 - 306,819,962 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TSC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1125,195,604 - 5,249,042 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl125,195,675 - 5,244,157 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607910,396,791 - 10,450,324 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tsc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247603,498,692 - 3,532,011 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247603,479,028 - 3,536,612 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Tsc1
1347 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9708
Count of miRNA genes:912
Interacting mature miRNAs:1353
Transcripts:ENSMUST00000028155, ENSMUST00000113867, ENSMUST00000113869, ENSMUST00000113870, ENSMUST00000124507, ENSMUST00000125715, ENSMUST00000133565, ENSMUST00000139642, ENSMUST00000150274, ENSMUST00000153625, ENSMUST00000156857
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 (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
8552706Cia24_mcollagen induced arthritis QTL 24 (mouse)Not determined22467911533523172Mouse
8552707Cia23_mcollagen induced arthritis QTL 23 (mouse)Not determined21212953766556453Mouse
12904005Cfq2_mconditioned fear QTL 2 (mouse)22702264256396228Mouse
1300624Insq7_minsulin QTL 7 (mouse)Not determined2938444643384575Mouse
8552705Cia25_mcollagen induced arthritis 25 (mouse)Not determined22467911533523172Mouse
39128209Lwq14_mliver weight QTL 14 (mouse)220897778118894840Mouse
1558738W6q1_mweight 6 weeks QTL 1 (mouse)Not determined220897778118894840Mouse
26884438Sklq12_mskull length QTL 12, 16 week (mouse)22459001254890012Mouse
1301790Pcfm1_mperiosteal circumference and femur length 1 (mouse)Not determined2823629642236396Mouse
1302174Dssc2_mdextran sodium sulfate induced colitis QTL2 (mouse)Not determined224224632148700377Mouse
4142130Pgis2_mproteoglycan induced spondylitis 2 (mouse)Not determined22530805156971811Mouse
1301980Fcsa5_mfemoral cross-sectional area 5 (mouse)Not determined2767911541679261Mouse
1301376Etohc1_methanol consumption 1 (mouse)Not determined22112972555129871Mouse
1558915W3q1_mweight 3 weeks QTL 1 (mouse)Not determined220897778118894840Mouse
12792980Fbmd1_mfemoral bone mineral density 1, females only (mouse)22503449245034492Mouse
1301769Orgwq2_morgan weight QTL 2 (mouse)Not determined2388712693421651Mouse
1301641Sbmd2_mspinal bone mineral density 2 (mouse)Not determined21421456748214713Mouse
1357454Kidq1_mkidney weight QTL 1 (mouse)Not determined220897778118894840Mouse
10755513Amzn4_manatomical modifier of Zfp423 4 (mouse)2938444643384575Mouse
1558966W10q9_mweight 10 weeks QTL 9 (mouse)Not determined220897778118894840Mouse
13463470Tubisq1_mtubulointerstitial injury severity, QTL 1 (mouse)22368914557689269Mouse
1558899Egq1_mearly growth QTL 1 (mouse)Not determined220897778118894840Mouse
1357681Hrtq1_mheart weight QTL 1 (mouse)Not determined220897778118894840Mouse
1357436Splq1_mspleen weight QTL 1 (mouse)Not determined220897778118894840Mouse
1357881Estoq1_membryo survival total QTL 1 (mouse)Not determined220897778118894840Mouse
1300577Capsq1_mcapsaicin sensitivity related QTL 1 (mouse)Not determined22760206084013384Mouse
4141708Pbwg1.2_mpostnatal body weight growth 1.2 (mouse)Not determined2112972555129871Mouse
10043876Adip22_madiposity 22 (mouse)Not determined2830805142308240Mouse

Markers in Region
RH131844  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38228,690,863 - 28,691,057UniSTSGRCm38
MGSCv37228,546,383 - 28,546,577UniSTSGRCm37
Celera228,395,369 - 28,395,563UniSTS
Cytogenetic Map2B-C1.1UniSTS


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001289575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001421615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001421616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006498220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006498221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006498222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006498223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011239142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011239143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_030251935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_030251936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB047561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI837319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ271911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ271912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK030318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK047656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK078140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK083363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK147428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK154416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL731851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY275738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSMUST00000028155   ⟹   ENSMUSP00000028155
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl228,531,249 - 28,581,179 (+)Ensembl
GRCm38.p6 Ensembl228,641,237 - 28,691,167 (+)Ensembl
Ensembl Acc Id: ENSMUST00000113867   ⟹   ENSMUSP00000109498
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl228,531,255 - 28,581,179 (+)Ensembl
GRCm38.p6 Ensembl228,641,243 - 28,691,167 (+)Ensembl
Ensembl Acc Id: ENSMUST00000113869   ⟹   ENSMUSP00000109500
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl228,531,253 - 28,581,179 (+)Ensembl
GRCm38.p6 Ensembl228,641,241 - 28,691,167 (+)Ensembl
Ensembl Acc Id: ENSMUST00000113870   ⟹   ENSMUSP00000109501
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl228,548,579 - 28,581,179 (+)Ensembl
GRCm38.p6 Ensembl228,658,567 - 28,691,167 (+)Ensembl
Ensembl Acc Id: ENSMUST00000124507
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl228,531,266 - 28,557,971 (+)Ensembl
GRCm38.p6 Ensembl228,641,254 - 28,667,959 (+)Ensembl
Ensembl Acc Id: ENSMUST00000125715
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl228,561,027 - 28,563,199 (+)Ensembl
GRCm38.p6 Ensembl228,671,015 - 28,673,187 (+)Ensembl
Ensembl Acc Id: ENSMUST00000133565   ⟹   ENSMUSP00000120888
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl228,531,253 - 28,578,560 (+)Ensembl
GRCm38.p6 Ensembl228,641,241 - 28,688,548 (+)Ensembl
Ensembl Acc Id: ENSMUST00000139642
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl228,562,290 - 28,563,341 (+)Ensembl
GRCm38.p6 Ensembl228,672,278 - 28,673,329 (+)Ensembl
Ensembl Acc Id: ENSMUST00000150274
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl228,553,404 - 28,555,977 (+)Ensembl
GRCm38.p6 Ensembl228,663,392 - 28,665,965 (+)Ensembl
Ensembl Acc Id: ENSMUST00000153625
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl228,531,262 - 28,563,765 (+)Ensembl
GRCm38.p6 Ensembl228,641,250 - 28,673,753 (+)Ensembl
Ensembl Acc Id: ENSMUST00000156857   ⟹   ENSMUSP00000115380
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl228,531,240 - 28,562,519 (+)Ensembl
GRCm38.p6 Ensembl228,641,228 - 28,672,507 (+)Ensembl
RefSeq Acc Id: NM_001289575   ⟹   NP_001276504
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39228,531,262 - 28,581,180 (+)NCBI
GRCm38228,641,233 - 28,691,172 (+)NCBI
Celera228,345,739 - 28,395,678 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289576   ⟹   NP_001276505
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39228,531,262 - 28,581,180 (+)NCBI
GRCm38228,641,233 - 28,691,172 (+)NCBI
Celera228,345,739 - 28,395,678 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001421615   ⟹   NP_001408544
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39228,531,262 - 28,581,180 (+)NCBI
RefSeq Acc Id: NM_001421616   ⟹   NP_001408545
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39228,531,262 - 28,581,180 (+)NCBI
RefSeq Acc Id: NM_022887   ⟹   NP_075025
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39228,531,262 - 28,581,180 (+)NCBI
GRCm38228,641,233 - 28,691,172 (+)NCBI
MGSCv37228,496,763 - 28,546,687 (+)RGD
Celera228,345,739 - 28,395,678 (+)NCBI
cM Map2 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006498220   ⟹   XP_006498283
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39228,531,230 - 28,581,183 (+)NCBI
GRCm38228,641,218 - 28,691,171 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006498221   ⟹   XP_006498284
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39228,531,005 - 28,580,949 (+)NCBI
GRCm38228,640,993 - 28,690,937 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006498222   ⟹   XP_006498285
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39228,531,324 - 28,580,949 (+)NCBI
GRCm38228,641,312 - 28,690,937 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006498223   ⟹   XP_006498286
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39228,531,230 - 28,580,949 (+)NCBI
GRCm38228,641,218 - 28,690,937 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011239142   ⟹   XP_011237444
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39228,531,342 - 28,580,949 (+)NCBI
GRCm38228,641,377 - 28,690,937 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011239143   ⟹   XP_011237445
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39228,531,253 - 28,580,949 (+)NCBI
GRCm38228,641,239 - 28,690,937 (+)NCBI
Sequence:
RefSeq Acc Id: XM_030251935   ⟹   XP_030107795
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39228,531,324 - 28,580,949 (+)NCBI
GRCm38228,641,312 - 28,690,937 (+)NCBI
Sequence:
RefSeq Acc Id: XM_030251936   ⟹   XP_030107796
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39228,531,342 - 28,580,949 (+)NCBI
GRCm38228,641,328 - 28,690,937 (+)NCBI
Sequence:
RefSeq Acc Id: NP_075025   ⟸   NM_022887
- Peptide Label: isoform 2
- UniProtKB: Q9EP53 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006498284   ⟸   XM_006498221
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006498283   ⟸   XM_006498220
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006498286   ⟸   XM_006498223
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006498285   ⟸   XM_006498222
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001276504   ⟸   NM_001289575
- Peptide Label: isoform 1
- UniProtKB: Q80U55 (UniProtKB/Swiss-Prot),   Q7TS92 (UniProtKB/Swiss-Prot),   Q3UHF2 (UniProtKB/Swiss-Prot),   A2AHW1 (UniProtKB/Swiss-Prot),   Q924U7 (UniProtKB/Swiss-Prot),   Q9EP53 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001276505   ⟸   NM_001289576
- Peptide Label: isoform 3
- UniProtKB: Q9EP53 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011237445   ⟸   XM_011239143
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011237444   ⟸   XM_011239142
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_030107795   ⟸   XM_030251935
- Peptide Label: isoform X3
RefSeq Acc Id: XP_030107796   ⟸   XM_030251936
- Peptide Label: isoform X3
Ensembl Acc Id: ENSMUSP00000109500   ⟸   ENSMUST00000113869
Ensembl Acc Id: ENSMUSP00000109498   ⟸   ENSMUST00000113867
Ensembl Acc Id: ENSMUSP00000109501   ⟸   ENSMUST00000113870
Ensembl Acc Id: ENSMUSP00000120888   ⟸   ENSMUST00000133565
Ensembl Acc Id: ENSMUSP00000028155   ⟸   ENSMUST00000028155
Ensembl Acc Id: ENSMUSP00000115380   ⟸   ENSMUST00000156857
RefSeq Acc Id: NP_001408544   ⟸   NM_001421615
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001408545   ⟸   NM_001421616
- Peptide Label: isoform 3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9EP53-F1-model_v2 AlphaFold Q9EP53 1-1161 view protein structure

Promoters
RGD ID:6832999
Promoter ID:MM_KWN:28409
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6
Transcripts:ENSMUST00000028155,   ENSMUST00000113867,   ENSMUST00000113869,   NM_022887,   OTTMUST00000027554,   OTTMUST00000027555,   OTTMUST00000027557,   UC008IYY.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36228,496,346 - 28,496,852 (+)MPROMDB
RGD ID:6833000
Promoter ID:MM_KWN:28411
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Brain
Transcripts:OTTMUST00000027562
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36228,525,831 - 28,526,331 (+)MPROMDB
RGD ID:6876804
Promoter ID:EPDNEW_M1853
Type:multiple initiation site
Name:Tsc1_1
Description:Mus musculus tuberous sclerosis 1 , transcript variant 3, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38228,641,250 - 28,641,310EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1929183 AgrOrtholog
Ensembl Genes ENSMUSG00000026812 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000028155 ENTREZGENE
  ENSMUST00000028155.12 UniProtKB/Swiss-Prot
  ENSMUST00000113867 ENTREZGENE
  ENSMUST00000113867.9 UniProtKB/Swiss-Prot
  ENSMUST00000113869 ENTREZGENE
  ENSMUST00000113869.8 UniProtKB/Swiss-Prot
  ENSMUST00000113870.3 UniProtKB/Swiss-Prot
  ENSMUST00000133565.8 UniProtKB/TrEMBL
  ENSMUST00000156857.8 UniProtKB/TrEMBL
InterPro ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hamartin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:64930 UniProtKB/Swiss-Prot
MGD MGI:1929183 ENTREZGENE
NCBI Gene 64930 ENTREZGENE
PANTHER HAMARTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15154 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hamartin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Tsc1 PhenoGen
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2AHW1 ENTREZGENE
  F2Z3W0_MOUSE UniProtKB/TrEMBL
  F2Z3X2_MOUSE UniProtKB/TrEMBL
  Q3UHF2 ENTREZGENE
  Q7TS92 ENTREZGENE
  Q80U55 ENTREZGENE
  Q8BQP0_MOUSE UniProtKB/TrEMBL
  Q924U7 ENTREZGENE
  Q9EP53 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A2AHW1 UniProtKB/Swiss-Prot
  Q3UHF2 UniProtKB/Swiss-Prot
  Q7TS92 UniProtKB/Swiss-Prot
  Q80U55 UniProtKB/Swiss-Prot
  Q924U7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-05-14 Tsc1  TSC complex subunit 1  Tsc1  tuberous sclerosis 1  Symbol and/or name change 5135510 APPROVED