SRXN1 (sulfiredoxin 1) - Rat Genome Database

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Gene: SRXN1 (sulfiredoxin 1) Homo sapiens
Analyze
Symbol: SRXN1
Name: sulfiredoxin 1
RGD ID: 1316466
HGNC Page HGNC:16132
Description: Enables oxidoreductase activity, acting on a sulfur group of donors. Involved in response to oxidative stress. Located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C20orf139; chromosome 20 open reading frame 139; dJ850E9.2; FLJ43353; Npn3; SRX; SRX1; sulfiredoxin 1 homolog; sulfiredoxin-1; sulphiredoxin; YKL086W
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC101060043  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3820646,615 - 653,200 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl20646,615 - 653,200 (-)EnsemblGRCh38hg38GRCh38
GRCh3720627,259 - 633,844 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3620575,259 - 581,890 (-)NCBINCBI36Build 36hg18NCBI36
Build 3420575,269 - 581,890NCBI
Celera20722,084 - 728,715 (-)NCBICelera
Cytogenetic Map20p13NCBI
HuRef20578,569 - 585,325 (-)NCBIHuRef
CHM1_120627,286 - 634,040 (-)NCBICHM1_1
T2T-CHM13v2.020690,889 - 697,474 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
(E)-cinnamyl alcohol  (EXP)
(S)-colchicine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
1H-pyrazole  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-D  (ISO)
2,4-dinitrophenol  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-(chloromethyl)pyridine  (EXP)
2-hydroxyethyl methacrylate  (EXP)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
2-tert-butylhydroquinone  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-Hydroxybenzo[a]pyrene  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-phenylprop-2-enal  (EXP)
4,4'-methylene-bis-(2-chloroaniline)  (EXP)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nitro-1,2-phenylenediamine  (EXP)
4-nitrophenol  (ISO)
4-nitroquinoline N-oxide  (ISO)
5-bromo-2'-deoxyuridine  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
Aflatoxin G1  (EXP)
Aflatoxin G2  (EXP)
all-trans-retinoic acid  (EXP)
allyl alcohol  (ISO)
alpha-hexylcinnamaldehyde  (EXP)
amoxicillin  (EXP)
ampicillin  (EXP)
andrographolide  (EXP,ISO)
aphidicolin  (ISO)
arachidonic acid  (ISO)
aristolochic acid A  (EXP)
arotinoid acid  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
azathioprine  (EXP,ISO)
Bandrowski's base  (EXP)
Bardoxolone methyl  (EXP,ISO)
beauvericin  (EXP)
benzene  (EXP)
benzidine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzoic acid  (EXP)
beta-lapachone  (EXP)
beta-naphthoflavone  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bleomycin A2  (ISO)
bleomycin A5  (EXP)
Bromochloroacetonitrile  (EXP)
buta-1,3-diene  (ISO)
butan-1-ol  (EXP)
butylated hydroxyanisole  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (ISO)
camptothecin  (ISO)
cannabidiol  (EXP,ISO)
captan  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cerium trichloride  (EXP)
CHIR 99021  (EXP)
chlordecone  (ISO)
chloroacetaldehyde  (EXP)
Chloroacetonitrile  (EXP)
chloroprene  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cidofovir anhydrous  (EXP)
ciglitazone  (ISO)
cinnamyl alcohol  (EXP)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
clodronic acid  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP,ISO)
cortisol  (EXP)
coumarin  (ISO)
cyclosporin A  (EXP)
cypermethrin  (ISO)
cyproconazole  (ISO)
cytarabine  (ISO)
DDT  (EXP)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibenzo[a,l]pyrene  (EXP)
Dibromoacetonitrile  (EXP)
dibutyl phthalate  (ISO)
dicamba  (ISO)
dichloroacetic acid  (ISO)
Dichloroacetonitrile  (EXP)
diclofenac  (EXP,ISO)
diethyl malate  (EXP)
diethyl maleate  (EXP,ISO)
dimethyl sulfoxide  (ISO)
dioxygen  (EXP)
diphenylcyclopropenone  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diquat  (EXP,ISO)
disulfiram  (EXP)
diuron  (ISO)
doramapimod  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
endosulfan  (EXP)
enniatin  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
etacrynic acid  (EXP)
ethanol  (ISO)
ethionamide  (EXP)
etoposide  (EXP,ISO)
eugenol  (EXP)
fenamidone  (ISO)
fenofibrate  (EXP)
fenvalerate  (ISO)
ferric oxide  (ISO)
flucloxacillin  (EXP)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
formaldehyde  (EXP,ISO)
fumonisin B1  (ISO)
furan  (ISO)
gamma-hexachlorocyclohexane  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glutathione  (ISO)
glyphosate  (ISO)
hexane  (EXP)
hydralazine  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroxyurea  (ISO)
hypochlorous acid  (ISO)
ibuprofen  (EXP)
ifosfamide  (EXP)
indometacin  (EXP,ISO)
isoeugenol  (EXP)
isoniazide  (EXP)
ivermectin  (EXP)
ketoconazole  (ISO)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
L-methionine  (ISO)
lanthanum trichloride  (EXP)
lead diacetate  (EXP,ISO)
leflunomide  (EXP,ISO)
levofloxacin  (ISO)
lipopolysaccharide  (EXP,ISO)
lomustine  (ISO)
lutein  (ISO)
menadione  (EXP,ISO)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
metam  (ISO)
methapyrilene  (ISO)
methyl methacrylate  (ISO)
methyl methanesulfonate  (ISO)
methyl salicylate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
mitomycin C  (ISO)
morphine  (ISO)
N(4)-hydroxycytidine  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-[3,5-bis(trifluoromethyl)phenyl]-5-chloro-2-hydroxybenzamide  (EXP)
N-acetyl-L-cysteine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methylformamide  (ISO)
N-nitrosodiethylamine  (ISO)
n-propyl gallate  (ISO)
naphthalene  (ISO)
nefazodone  (ISO)
nickel sulfate  (EXP)
nimesulide  (ISO)
nitrososulfamethoxazole  (EXP)
ochratoxin A  (EXP)
omaveloxolone  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenobarbital  (EXP,ISO)
phenol  (EXP)
phenylmercury acetate  (EXP)
phorone  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium bromate  (EXP,ISO)
prednisolone  (EXP)
propan-2-ol  (EXP)
propiconazole  (ISO)
Pyridostigmine bromide  (ISO)
quercetin  (ISO)
quinolin-8-ol  (EXP)
rac-lactic acid  (EXP)
reactive oxygen species  (ISO)
resorcinol  (ISO)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (EXP)
Soman  (ISO)
sotorasib  (EXP)
streptozocin  (ISO)
succimer  (ISO)
sulfisoxazole  (ISO)
sulforaphane  (EXP)
sulindac  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP,ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trametinib  (EXP)
trans-isoeugenol  (EXP)
Trichloroacetonitrile  (EXP)
trichloroethene  (ISO)
triphenyl phosphate  (EXP,ISO)
Triptolide  (ISO)
troglitazone  (EXP)
tunicamycin  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP)
XAV939  (EXP)
zearalenone  (EXP)
zinc oxide  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11076863   PMID:11181995   PMID:11230166   PMID:11780052   PMID:12477932   PMID:15448164   PMID:15489334   PMID:15489336   PMID:15590625   PMID:15952770   PMID:16381901   PMID:16565085  
PMID:16818657   PMID:17176052   PMID:18172504   PMID:18579529   PMID:18593714   PMID:19027064   PMID:19057013   PMID:19561357   PMID:19812042   PMID:20718723   PMID:21487000   PMID:21742584  
PMID:21800051   PMID:21873635   PMID:21943684   PMID:22086924   PMID:22879602   PMID:22934964   PMID:22939629   PMID:22964583   PMID:25460739   PMID:26167880   PMID:26170166   PMID:26290602  
PMID:26344197   PMID:27226772   PMID:27377607   PMID:27821734   PMID:28202395   PMID:28274319   PMID:28351308   PMID:28448437   PMID:29441509   PMID:30258100   PMID:30863778   PMID:31000628  
PMID:32344865   PMID:32411320   PMID:32746503   PMID:32955798   PMID:33845483   PMID:33961781   PMID:35748872   PMID:35914814   PMID:37017121   PMID:37726767   PMID:38803224   PMID:38852489  
PMID:39029574  


Genomics

Comparative Map Data
SRXN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3820646,615 - 653,200 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl20646,615 - 653,200 (-)EnsemblGRCh38hg38GRCh38
GRCh3720627,259 - 633,844 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3620575,259 - 581,890 (-)NCBINCBI36Build 36hg18NCBI36
Build 3420575,269 - 581,890NCBI
Celera20722,084 - 728,715 (-)NCBICelera
Cytogenetic Map20p13NCBI
HuRef20578,569 - 585,325 (-)NCBIHuRef
CHM1_120627,286 - 634,040 (-)NCBICHM1_1
T2T-CHM13v2.020690,889 - 697,474 (-)NCBIT2T-CHM13v2.0
Srxn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392151,946,738 - 151,953,296 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2151,947,436 - 151,953,296 (+)EnsemblGRCm39 Ensembl
GRCm382152,105,524 - 152,111,376 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2152,105,516 - 152,111,376 (+)EnsemblGRCm38mm10GRCm38
MGSCv372151,931,466 - 151,937,089 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362151,797,171 - 151,802,794 (+)NCBIMGSCv36mm8
Celera2157,921,724 - 157,927,347 (+)NCBICelera
Cytogenetic Map2G3NCBI
cM Map274.83NCBI
Srxn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83161,064,812 - 161,070,372 (+)NCBIGRCr8
mRatBN7.23140,604,490 - 140,610,050 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3140,599,608 - 140,628,448 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3144,508,993 - 144,514,553 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03153,092,812 - 153,098,372 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03150,833,296 - 150,838,855 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03147,608,850 - 147,614,410 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3147,609,095 - 147,632,801 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03153,957,677 - 153,963,237 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43142,457,352 - 142,462,725 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13142,357,865 - 142,386,609 (+)NCBI
Celera3139,357,182 - 139,362,742 (+)NCBICelera
Cytogenetic Map3q41NCBI
Srxn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955597483,358 - 487,555 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955597483,358 - 487,555 (-)NCBIChiLan1.0ChiLan1.0
SRXN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1201,732,942 - 1,739,638 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v020855,951 - 862,640 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.120625,376 - 631,950 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl20625,376 - 631,950 (-)Ensemblpanpan1.1panPan2
SRXN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12420,232,608 - 20,238,838 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2420,232,607 - 20,237,154 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2419,885,276 - 19,891,640 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02420,923,866 - 20,930,218 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2420,923,866 - 20,930,153 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12420,199,129 - 20,205,485 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02420,304,875 - 20,311,233 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02420,735,939 - 20,742,311 (+)NCBIUU_Cfam_GSD_1.0
Srxn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640169,441,639 - 169,484,737 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648517,873,286 - 17,877,783 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648517,873,283 - 17,879,746 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SRXN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1734,582,440 - 34,589,300 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11734,582,377 - 34,589,308 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21739,382,631 - 39,389,562 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SRXN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1255,866,050 - 55,870,568 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660788,080,707 - 8,087,095 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Srxn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247411,724,554 - 1,730,059 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SRXN1
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20p13(chr20:89939-1360110)x1 copy number loss See cases [RCV000050841] Chr20:89939..1360110 [GRCh38]
Chr20:70580..1340754 [GRCh37]
Chr20:18580..1288754 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1028206)x3 copy number gain See cases [RCV000050986] Chr20:89939..1028206 [GRCh38]
Chr20:70580..1008849 [GRCh37]
Chr20:18580..956849 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1852477)x1 copy number loss See cases [RCV000050373] Chr20:89939..1852477 [GRCh38]
Chr20:70580..1833123 [GRCh37]
Chr20:18580..1781123 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13(chr20:89939-975656)x1 copy number loss See cases [RCV000052733] Chr20:89939..975656 [GRCh38]
Chr20:70580..956299 [GRCh37]
Chr20:18580..904299 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1939218)x1 copy number loss See cases [RCV000052735] Chr20:89939..1939218 [GRCh38]
Chr20:70580..1919864 [GRCh37]
Chr20:18580..1867864 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1770567)x1 copy number loss See cases [RCV000052736] Chr20:89939..1770567 [GRCh38]
Chr20:70580..1751213 [GRCh37]
Chr20:18580..1699213 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1668795)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052737]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052737]|See cases [RCV000052737] Chr20:89939..1668795 [GRCh38]
Chr20:70580..1649441 [GRCh37]
Chr20:18580..1597441 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:121781-2290194)x1 copy number loss See cases [RCV000052738] Chr20:121781..2290194 [GRCh38]
Chr20:102422..2270840 [GRCh37]
Chr20:50422..2218840 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13(chr20:406876-802123)x3 copy number gain See cases [RCV000663384] Chr20:406876..802123 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:71023-2129746)x1 copy number loss See cases [RCV000184090] Chr20:71023..2129746 [GRCh37]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:590507-661733)x3 copy number gain See cases [RCV000134502] Chr20:590507..661733 [GRCh38]
Chr20:571151..642377 [GRCh37]
Chr20:519151..590377 [NCBI36]
Chr20:20p13		 benign
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1494113)x1 copy number loss See cases [RCV000135804] Chr20:89939..1494113 [GRCh38]
Chr20:70580..1474759 [GRCh37]
Chr20:18580..1422759 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1246891)x3 copy number gain See cases [RCV000135794] Chr20:89939..1246891 [GRCh38]
Chr20:70580..1227535 [GRCh37]
Chr20:18580..1175535 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p13(chr20:80093-1246766)x1 copy number loss See cases [RCV000139403] Chr20:80093..1246766 [GRCh38]
Chr20:60734..1227410 [GRCh37]
Chr20:8734..1175410 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:80106-702368)x3 copy number gain See cases [RCV000138961] Chr20:80106..702368 [GRCh38]
Chr20:60747..683012 [GRCh37]
Chr20:8747..631012 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13(chr20:364204-879317)x3 copy number gain See cases [RCV000139812] Chr20:364204..879317 [GRCh38]
Chr20:344848..859960 [GRCh37]
Chr20:292848..807960 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3 copy number gain See cases [RCV000139597] Chr20:80093..6386012 [GRCh38]
Chr20:60734..6366659 [GRCh37]
Chr20:8734..6314659 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13(chr20:590507-679227)x3 copy number gain See cases [RCV000141262] Chr20:590507..679227 [GRCh38]
Chr20:571151..659871 [GRCh37]
Chr20:519151..607871 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3 copy number gain See cases [RCV000141348] Chr20:84402..6159078 [GRCh38]
Chr20:65043..6139725 [GRCh37]
Chr20:13043..6087725 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13(chr20:209424-1852477)x3 copy number gain See cases [RCV000140876] Chr20:209424..1852477 [GRCh38]
Chr20:190065..1833123 [GRCh37]
Chr20:138065..1781123 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3 copy number gain See cases [RCV000142285] Chr20:80927..5447679 [GRCh38]
Chr20:61568..5428325 [GRCh37]
Chr20:9568..5376325 [NCBI36]
Chr20:20p13-12.3		 uncertain significance
GRCh38/hg38 20p13(chr20:80106-1246891)x1 copy number loss See cases [RCV000142919] Chr20:80106..1246891 [GRCh38]
Chr20:60747..1227535 [GRCh37]
Chr20:8747..1175535 [NCBI36]
Chr20:20p13		 likely pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13(chr20:80927-1806080)x1 copy number loss See cases [RCV000143700] Chr20:80927..1806080 [GRCh38]
Chr20:61568..1786726 [GRCh37]
Chr20:9568..1734726 [NCBI36]
Chr20:20p13		 likely pathogenic|uncertain significance
GRCh38/hg38 20p13(chr20:89939-1852477)x1 copy number loss See cases [RCV000148279] Chr20:89939..1852477 [GRCh38]
Chr20:70580..1833123 [GRCh37]
Chr20:18580..1781123 [NCBI36]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3 copy number gain See cases [RCV000239772] Chr20:121521..5564937 [GRCh37]
Chr20:20p13-12.3		 pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p13(chr20:61568-4914872)x3 copy number gain See cases [RCV000446883] Chr20:61568..4914872 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-1823540)x1 copy number loss See cases [RCV000446902] Chr20:61568..1823540 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:121521-2073612)x1 copy number loss See cases [RCV000446640] Chr20:121521..2073612 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-806878)x1 copy number loss See cases [RCV000447172] Chr20:61568..806878 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13(chr20:61568-1513319)x1 copy number loss See cases [RCV000445920] Chr20:61568..1513319 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-4904599)x3 copy number gain See cases [RCV000448397] Chr20:61568..4904599 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21		 pathogenic
GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3 copy number gain See cases [RCV000510531] Chr20:213423..5483406 [GRCh37]
Chr20:20p13-12.3		 uncertain significance
GRCh37/hg19 20p13(chr20:381794-1268103)x3 copy number gain See cases [RCV000510434] Chr20:381794..1268103 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-1651420)x1 copy number loss See cases [RCV000510423] Chr20:61568..1651420 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13(chr20:61568-2824960)x3 copy number gain See cases [RCV000511991] Chr20:61568..2824960 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 copy number gain See cases [RCV000512556] Chr20:61568..10486106 [GRCh37]
Chr20:20p13-12.2		 likely pathogenic
GRCh37/hg19 20p13(chr20:61568-2010334)x1 copy number loss not provided [RCV000684132] Chr20:61568..2010334 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13(chr20:61568-2269777)x1 copy number loss not provided [RCV001007065] Chr20:61568..2269777 [GRCh37]
Chr20:20p13		 pathogenic
NC_000020.11:g.(?_408719)_(765794_?)dup duplication Polyglucosan body myopathy type 1 [RCV001032626] Chr20:389363..746438 [GRCh37]
Chr20:20p13		 uncertain significance
NC_000020.10:g.157772_706326dup duplication Neurodevelopmental disorder [RCV000787408] Chr20:157772..706326 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-1305971)x1 copy number loss not provided [RCV001007067] Chr20:61568..1305971 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:288904-874280)x3 copy number gain not provided [RCV000848132] Chr20:288904..874280 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:63244-813880)x1 copy number loss See cases [RCV001194569] Chr20:63244..813880 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p13(chr20:61568-677437)x1 copy number loss not provided [RCV001258750] Chr20:61568..677437 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13(chr20:67778-974841) copy number loss Global developmental delay [RCV001352667] Chr20:67778..974841 [GRCh37]
Chr20:20p13		 pathogenic
NC_000020.10:g.(?_389402)_(746418_?)dup duplication not provided [RCV002007714] Chr20:389402..746418 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-1823540) copy number loss not specified [RCV002052695] Chr20:61568..1823540 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:242496-742740) copy number gain not specified [RCV002052696] Chr20:242496..742740 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-806878) copy number loss not specified [RCV002052694] Chr20:61568..806878 [GRCh37]
Chr20:20p13		 likely pathogenic
NC_000020.10:g.(?_389402)_(746418_?)del deletion Brown-Vialetto-van Laere syndrome 1 [RCV001900457]|not provided [RCV001877503] Chr20:389402..746418 [GRCh37]
Chr20:20p13		 pathogenic|no classifications from unflagged records
GRCh37/hg19 20p13(chr20:489033-898472)x3 copy number gain not provided [RCV002279749] Chr20:489033..898472 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13(chr20:453176-822262)x1 copy number loss Stereotypic movement disorder [RCV002283352] Chr20:453176..822262 [GRCh38]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:384444-744450)x3 copy number gain not provided [RCV002475006] Chr20:384444..744450 [GRCh37]
Chr20:20p13		 uncertain significance
NM_080725.3(SRXN1):c.91G>T (p.Gly31Cys) single nucleotide variant not specified [RCV004203102] Chr20:653095 [GRCh38]
Chr20:633739 [GRCh37]
Chr20:20p13		 uncertain significance
NM_080725.3(SRXN1):c.59A>G (p.Glu20Gly) single nucleotide variant not specified [RCV004246611] Chr20:653127 [GRCh38]
Chr20:633771 [GRCh37]
Chr20:20p13		 uncertain significance
NM_080725.3(SRXN1):c.41C>A (p.Ala14Glu) single nucleotide variant not specified [RCV004134121] Chr20:653145 [GRCh38]
Chr20:633789 [GRCh37]
Chr20:20p13		 uncertain significance
NM_080725.3(SRXN1):c.5G>A (p.Gly2Glu) single nucleotide variant not specified [RCV004224983] Chr20:653181 [GRCh38]
Chr20:633825 [GRCh37]
Chr20:20p13		 uncertain significance
NM_080725.3(SRXN1):c.41C>G (p.Ala14Gly) single nucleotide variant not specified [RCV004293310] Chr20:653145 [GRCh38]
Chr20:633789 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 copy number gain Renal agenesis [RCV003327640] Chr20:87153..23635465 [GRCh38]
Chr20:20p13-11.21		 pathogenic
NM_080725.3(SRXN1):c.128A>G (p.Asn43Ser) single nucleotide variant not specified [RCV004344682] Chr20:653058 [GRCh38]
Chr20:633702 [GRCh37]
Chr20:20p13		 uncertain significance
NM_080725.3(SRXN1):c.175C>G (p.Pro59Ala) single nucleotide variant not specified [RCV004354621] Chr20:653011 [GRCh38]
Chr20:633655 [GRCh37]
Chr20:20p13		 uncertain significance
NM_080725.3(SRXN1):c.302G>A (p.Arg101His) single nucleotide variant not specified [RCV004334427] Chr20:648826 [GRCh38]
Chr20:629470 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:527467-721341)x1 copy number loss not provided [RCV003483355] Chr20:527467..721341 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:438458-1083208)x3 copy number gain not provided [RCV003485208] Chr20:438458..1083208 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61569-1794919)x3 copy number gain not provided [RCV003485206] Chr20:61569..1794919 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3 copy number gain not provided [RCV003485207] Chr20:61569..9542361 [GRCh37]
Chr20:20p13-12.2		 pathogenic
Single allele deletion not provided [RCV003448689] Chr20:61001..1041262 [GRCh37]
Chr20:20p13		 pathogenic
Single allele deletion not provided [RCV003448677] Chr20:61001..2316914 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3 copy number gain not provided [RCV003885494] Chr20:68351..16142323 [GRCh37]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 copy number gain not provided [RCV003885495] Chr20:68351..23860313 [GRCh37]
Chr20:20p13-11.21		 pathogenic
NM_080725.3(SRXN1):c.266G>A (p.Gly89Glu) single nucleotide variant not specified [RCV004460715] Chr20:648862 [GRCh38]
Chr20:629506 [GRCh37]
Chr20:20p13		 uncertain significance
NM_080725.3(SRXN1):c.290G>C (p.Gly97Ala) single nucleotide variant not specified [RCV004460716] Chr20:648838 [GRCh38]
Chr20:629482 [GRCh37]
Chr20:20p13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:995
Count of miRNA genes:647
Interacting mature miRNAs:746
Transcripts:ENST00000381962
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.

Markers in Region
RH80952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720627,303 - 627,528UniSTSGRCh37
Build 3620575,303 - 575,528RGDNCBI36
Celera20722,128 - 722,353RGD
Cytogenetic Map20p13UniSTS
HuRef20578,613 - 578,838UniSTS
Z94622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720629,148 - 629,335UniSTSGRCh37
Build 3620577,148 - 577,335RGDNCBI36
Celera20723,973 - 724,160RGD
Cytogenetic Map20p13UniSTS
HuRef20580,458 - 580,645UniSTS
A005W30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720627,299 - 627,431UniSTSGRCh37
Build 3620575,299 - 575,431RGDNCBI36
Celera20722,124 - 722,256RGD
Cytogenetic Map20p13UniSTS
HuRef20578,609 - 578,741UniSTS
GeneMap99-GB4 RH Map208.54UniSTS
G32301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720627,299 - 627,431UniSTSGRCh37
Celera20722,124 - 722,256UniSTS
Cytogenetic Map20p13UniSTS
HuRef20578,609 - 578,741UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2432 2788 2236 4953 1703 2322 5 603 1773 445 2269 7066 6269 52 3714 837 1719 1607 174 1

Sequence


Ensembl Acc Id: ENST00000381962   ⟹   ENSP00000371388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20646,615 - 653,200 (-)Ensembl
RefSeq Acc Id: NM_080725   ⟹   NP_542763
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820646,615 - 653,200 (-)NCBI
GRCh3720627,259 - 634,014 (-)NCBI
Build 3620575,259 - 581,890 (-)NCBI Archive
HuRef20578,569 - 585,325 (-)NCBI
CHM1_120627,286 - 634,040 (-)NCBI
T2T-CHM13v2.020690,889 - 697,474 (-)NCBI
Sequence:
RefSeq Acc Id: NP_542763   ⟸   NM_080725
- UniProtKB: Q8NDM3 (UniProtKB/Swiss-Prot),   B2R543 (UniProtKB/Swiss-Prot),   Q96AK6 (UniProtKB/Swiss-Prot),   Q9BYN0 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000371388   ⟸   ENST00000381962

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BYN0-F1-model_v2 AlphaFold Q9BYN0 1-137 view protein structure

Promoters
RGD ID:6799114
Promoter ID:HG_KWN:38301
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000077479
Position:
Human AssemblyChrPosition (strand)Source
Build 3620581,706 - 582,257 (-)MPROMDB
RGD ID:13206069
Promoter ID:EPDNEW_H26615
Type:initiation region
Name:SRXN1_5
Description:sulfiredoxin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26616  EPDNEW_H26617  EPDNEW_H26618  EPDNEW_H26619  EPDNEW_H26620  EPDNEW_H26621  EPDNEW_H26622  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820647,188 - 647,248EPDNEW
RGD ID:13206071
Promoter ID:EPDNEW_H26616
Type:initiation region
Name:SRXN1_6
Description:sulfiredoxin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26615  EPDNEW_H26617  EPDNEW_H26618  EPDNEW_H26619  EPDNEW_H26620  EPDNEW_H26621  EPDNEW_H26622  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820647,406 - 647,466EPDNEW
RGD ID:13206073
Promoter ID:EPDNEW_H26617
Type:initiation region
Name:SRXN1_8
Description:sulfiredoxin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26615  EPDNEW_H26616  EPDNEW_H26618  EPDNEW_H26619  EPDNEW_H26620  EPDNEW_H26621  EPDNEW_H26622  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820648,114 - 648,174EPDNEW
RGD ID:13206075
Promoter ID:EPDNEW_H26618
Type:initiation region
Name:SRXN1_3
Description:sulfiredoxin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26615  EPDNEW_H26616  EPDNEW_H26617  EPDNEW_H26619  EPDNEW_H26620  EPDNEW_H26621  EPDNEW_H26622  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820648,595 - 648,655EPDNEW
RGD ID:13206077
Promoter ID:EPDNEW_H26619
Type:initiation region
Name:SRXN1_4
Description:sulfiredoxin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26615  EPDNEW_H26616  EPDNEW_H26617  EPDNEW_H26618  EPDNEW_H26620  EPDNEW_H26621  EPDNEW_H26622  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820648,847 - 648,907EPDNEW
RGD ID:13206079
Promoter ID:EPDNEW_H26620
Type:initiation region
Name:SRXN1_7
Description:sulfiredoxin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26615  EPDNEW_H26616  EPDNEW_H26617  EPDNEW_H26618  EPDNEW_H26619  EPDNEW_H26621  EPDNEW_H26622  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820652,974 - 653,034EPDNEW
RGD ID:13206081
Promoter ID:EPDNEW_H26621
Type:initiation region
Name:SRXN1_1
Description:sulfiredoxin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26615  EPDNEW_H26616  EPDNEW_H26617  EPDNEW_H26618  EPDNEW_H26619  EPDNEW_H26620  EPDNEW_H26622  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820653,200 - 653,260EPDNEW
RGD ID:13206083
Promoter ID:EPDNEW_H26622
Type:initiation region
Name:SRXN1_2
Description:sulfiredoxin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26615  EPDNEW_H26616  EPDNEW_H26617  EPDNEW_H26618  EPDNEW_H26619  EPDNEW_H26620  EPDNEW_H26621  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820653,349 - 653,409EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16132 AgrOrtholog
COSMIC SRXN1 COSMIC
Ensembl Genes ENSG00000271303 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000381962 ENTREZGENE
  ENST00000381962.4 UniProtKB/Swiss-Prot
Gene3D-CATH Conserved hypothetical protein from pyrococcus furiosus pfu- 392566-001, ParB domain UniProtKB/Swiss-Prot
GTEx ENSG00000271303 GTEx
HGNC ID HGNC:16132 ENTREZGENE
Human Proteome Map SRXN1 Human Proteome Map
InterPro ParB/Sulfiredoxin_dom UniProtKB/Swiss-Prot
  ParB/Sulfiredoxin_sf UniProtKB/Swiss-Prot
  Sulfiredoxin UniProtKB/Swiss-Prot
KEGG Report hsa:140809 UniProtKB/Swiss-Prot
NCBI Gene 140809 ENTREZGENE
OMIM 617583 OMIM
PANTHER PTHR21348 UniProtKB/Swiss-Prot
  SULFIREDOXIN-1 UniProtKB/Swiss-Prot
PharmGKB PA25681 PharmGKB
PIRSF Sulfiredoxin UniProtKB/Swiss-Prot
SMART ParB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF110849 UniProtKB/Swiss-Prot
UniProt B2R543 ENTREZGENE
  Q8N7H8_HUMAN UniProtKB/TrEMBL
  Q8NDM3 ENTREZGENE
  Q96AK6 ENTREZGENE
  Q9BYN0 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R543 UniProtKB/Swiss-Prot
  Q8NDM3 UniProtKB/Swiss-Prot
  Q96AK6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 SRXN1  sulfiredoxin 1  SRXN1  sulfiredoxin 1 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED