GPX1 (glutathione peroxidase 1) - Rat Genome Database

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Gene: GPX1 (glutathione peroxidase 1) Homo sapiens
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Symbol: GPX1
Name: glutathione peroxidase 1
RGD ID: 737005
HGNC Page HGNC
Description: Enables SH3 domain binding activity; glutathione peroxidase activity; and phospholipid-hydroperoxide glutathione peroxidase activity. Involved in several processes, including UV protection; icosanoid metabolic process; and negative regulation of apoptotic process. Located in mitochondrion. Colocalizes with Lewy body. Implicated in several diseases, including anemia (multiple); cardiovascular system disease (multiple); hematologic cancer (multiple); nutritional deficiency disease (multiple); and pseudoxanthoma elasticum. Biomarker of Huntington's disease; artery disease (multiple); diabetic angiopathy; inflammatory bowel disease (multiple); and nephrosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cellular glutathione peroxidase; GPx-1; GPXD; GSHPx-1; GSHPX1; MGC14399; MGC88245; selenoprotein GPX1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GPX1P1   GPX1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl349,357,176 - 49,358,353 (-)EnsemblGRCh38hg38GRCh38
GRCh38349,357,176 - 49,358,353 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37349,394,609 - 49,395,786 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36349,369,613 - 49,370,795 (-)NCBINCBI36hg18NCBI36
Build 34349,369,614 - 49,370,795NCBI
Celera349,359,484 - 49,360,663 (-)NCBI
Cytogenetic Map3p21.31NCBI
HuRef349,454,091 - 49,455,270 (-)NCBIHuRef
CHM1_1349,347,422 - 49,348,601 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute lymphoblastic leukemia  (IDA)
acute myeloid leukemia  (IAGP,IDA)
Aicardi-Goutieres Syndrome 1  (IAGP)
alpha thalassemia  (IDA)
anemia  (IDA,ISO)
Anorexia  (IDA)
arteriosclerosis  (ISO)
autistic disorder  (EXP)
autosomal recessive limb-girdle muscular dystrophy type 2P  (IAGP)
Brain Injuries  (ISO)
brain ischemia  (EXP)
Breast Neoplasms  (EXP)
Cadmium Poisoning  (ISO)
calcinosis  (IAGP)
Cardiovascular Abnormalities  (IMP)
cardiovascular system disease  (EXP,IAGP)
carotid stenosis  (ISO)
cataract  (ISO)
Chronic Hepatitis  (EXP)
chronic kidney disease  (IDA)
chronic myeloid leukemia  (IAGP)
coronary artery disease  (IAGP,IEP)
COVID-19  (HEP)
Crohn's disease  (IEP)
diabetic angiopathy  (IEP)
Diabetic Nephropathies  (IAGP,ISO)
dilated cardiomyopathy  (EXP,IAGP)
epilepsy  (EXP)
Experimental Diabetes Mellitus  (EXP,ISO)
fatty liver disease  (EXP)
gestational diabetes  (ISO)
Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to  (IAGP)
hairy cell leukemia  (IDA)
Head and Neck Neoplasms  (EXP)
Hemolysis  (IEP)
Huntington's disease  (IEP)
hyperglycemia  (EXP,IMP)
hyperhomocysteinemia  (ISO)
hyperinsulinism  (EXP)
hypertension  (EXP,IEP,ISO)
Hyperthermia  (EXP)
hyperthyroidism  (EXP,ISO)
hypothyroidism  (ISO)
iron deficiency anemia  (IDA,ISO)
Iron Overload  (IDA)
Keshan disease  (IAGP)
leukemia  (IDA)
Liver Injury  (ISO)
Lung Neoplasms  (EXP)
mental depression  (IDA)
Mercury Poisoning  (ISO)
multiple myeloma  (IDA)
myeloid neoplasm  (IAGP)
myocardial infarction  (IEP)
nephrosis  (IEP)
non-alcoholic fatty liver disease  (ISO)
non-Hodgkin lymphoma  (IDA)
obesity  (EXP)
osteoporosis  (EXP)
Parkinson's disease  (EXP)
Pierson syndrome  (IAGP)
pseudoxanthoma elasticum  (IAGP)
Reperfusion Injury  (EXP)
Reticulocytosis  (IDA)
senile cataract  (ISO)
sickle cell anemia  (IDA,ISO)
squamous cell carcinoma  (EXP)
transitional cell carcinoma  (EXP)
type 2 diabetes mellitus  (EXP)
ulcerative colitis  (IEP)
urinary bladder cancer  (EXP)
vascular dementia  (ISO)
Venous Thrombosis  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(+)-taxifolin  (ISO)
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(-)-quinic acid  (EXP)
(E)-thiamethoxam  (ISO)
(R)-carnitine  (ISO)
(R)-lipoic acid  (EXP,ISO)
(S)-colchicine  (ISO)
(S)-naringenin  (ISO)
(S)-nicotine  (EXP,ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4,7-triazonane  (EXP)
1-chloro-2,4-dinitrobenzene  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (EXP)
1-naphthyl isothiocyanate  (ISO)
11-deoxycorticosterone  (ISO)
12(S)-HPETE  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-tert-butylhydroquinone  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,4-dihydroxybenzoic acid  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (ISO)
3-phenylprop-2-enal  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (EXP)
4-nonylphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acetic acid  (ISO)
acetylcholine  (ISO)
acetylsalicylic acid  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP)
alpha,alpha-trehalose  (ISO)
aluminium atom  (EXP)
aluminium(0)  (EXP)
AM-251  (EXP)
aminoglutethimide  (EXP)
aminoguanidine  (ISO)
amiodarone  (ISO)
amlexanox  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
amphibole asbestos  (EXP)
ampicillin  (ISO)
apigenin  (ISO)
apocynin  (ISO)
arachidonic acid  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic acid  (ISO)
arsenic atom  (EXP)
arsenic trichloride  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
atrasentan  (ISO)
atrazine  (ISO)
auranofin  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzopyran  (ISO)
berberine  (ISO)
beta-naphthoflavone  (ISO)
bifenthrin  (ISO)
biochanin A  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
bosentan  (EXP)
bromobenzene  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcium dichloride  (ISO)
camphene  (ISO)
capsaicin  (ISO)
carbon nanotube  (ISO)
carnosic acid  (EXP)
carnosine  (ISO)
celecoxib  (ISO)
chitosan  (ISO)
chloramine T  (ISO)
chloroform  (ISO)
chlorogenic acid  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chromium atom  (EXP)
chromium(6+)  (EXP,ISO)
ciprofibrate  (ISO)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
clofibrate  (ISO)
clozapine  (ISO)
cobalt atom  (EXP,ISO)
cobalt dichloride  (ISO)
cocaine  (ISO)
coenzyme Q10  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cordycepin  (EXP)
coumarin  (ISO)
CU-O LINKAGE  (ISO)
cumene hydroperoxide  (EXP,ISO)
Cuprizon  (ISO)
curcumin  (ISO)
Cyanoginosin  (ISO)
cyclophosphamide  (ISO)
cyfluthrin  (EXP)
cypermethrin  (ISO)
cyprodinil  (EXP)
cytochalasin D  (EXP)
D-glucose  (EXP,ISO)
daunorubicin  (EXP)
DDE  (ISO)
deoxynivalenol  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dichloromethane  (ISO)
diclofenac  (EXP,ISO)
dieldrin  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dihydrogen  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
Diphenyl disulfide  (EXP)
diprotium  (ISO)
diprotium oxide  (ISO)
diquat  (ISO)
disodium selenite  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
ebselen  (EXP,ISO)
elemental selenium  (EXP,ISO)
ellagic acid  (ISO)
emodin  (EXP)
endosulfan  (ISO)
enilconazole  (ISO)
enniatin  (ISO)
erythromycin estolate  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
fenamidone  (ISO)
fenofibrate  (ISO)
flavonoids  (ISO)
fludioxonil  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fructose  (ISO)
Galbanic acid  (EXP)
geneticin  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
geraniol  (ISO)
ginsenoside Re  (ISO)
Ginsenoside Rh4  (ISO)
glafenine  (ISO)
glucose  (EXP,ISO)
glutathione  (ISO)
glyphosate  (ISO)
GW 4064  (ISO)
haloperidol  (ISO)
hexadecanoic acid  (EXP)
homocysteine  (EXP)
hydrazine  (ISO)
hydrogen peroxide  (EXP,ISO)
hypochlorous acid  (ISO)
ifosfamide  (ISO)
iloprost  (ISO)
indirubin-3'-monoxime  (EXP)
indole-3-acetic acid  (ISO)
indometacin  (EXP,ISO)
iron atom  (ISO)
iron(0)  (ISO)
iron(2+) sulfate (anhydrous)  (ISO)
isoflavones  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
jaspamide  (EXP)
kainic acid  (ISO)
kojic acid  (ISO)
L-ascorbic acid  (EXP,ISO)
L-ethionine  (ISO)
L-methionine  (ISO)
lead diacetate  (EXP,ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
leptomycin B  (EXP)
limonene  (ISO)
linoleic acid hydroperoxide  (EXP)
lipoic acid  (EXP,ISO)
lipopolysaccharide  (EXP,ISO)
lovastatin  (ISO)
lutein  (ISO)
luteolin  (ISO)
Magnolol  (ISO)
mancozeb  (ISO)
maneb  (EXP,ISO)
manganese(II) chloride  (ISO)
melatonin  (ISO)
menadione  (EXP)
mephedrone  (ISO)
mercury atom  (EXP)
mercury dichloride  (ISO)
mercury(0)  (EXP)
methamphetamine  (ISO)
methotrexate  (EXP,ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylglyoxal  (ISO)
methylmercury chloride  (EXP,ISO)
methylmercury(1+)  (ISO)
metronidazole  (ISO)
microcystin  (ISO)
microcystin-LR  (ISO)
mitoxantrone  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monobenzyl phthalate  (ISO)
monoethyl phthalate  (ISO)
monosodium L-glutamate  (ISO)
motexafin gadolinium  (EXP)
myricitrin  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-acetyl-1,4-benzoquinone imine  (ISO)
N-acetyl-beta-D-glucosamine  (EXP)
N-acetyl-D-glucosamine  (EXP)
N-acetyl-L-cysteine  (EXP,ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
naphthalene  (ISO)
naringin  (ISO)
nefazodone  (ISO)
neomycin  (ISO)
nickel atom  (ISO)
nickel dichloride  (ISO)
nickel subsulfide  (EXP)
nicotine  (EXP,ISO)
nimesulide  (EXP,ISO)
nitric oxide  (ISO)
nitrofen  (ISO)
nitroglycerin  (ISO)
Nodularin  (EXP)
NONOate(1-)  (ISO)
Nonylphenol  (ISO)
NS-398  (EXP)
NSC 23766  (ISO)
Nutlin-3  (EXP)
obeticholic acid  (ISO)
ochratoxin A  (EXP,ISO)
octadecanoic acid  (ISO)
oleanolic acid  (ISO)
omeprazole  (ISO)
organoselenium compound  (ISO)
orlistat  (ISO)
p-chloromercuribenzoic acid  (EXP)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
pentachlorophenol  (ISO)
peptidoglycan  (EXP)
perfluorooctanoic acid  (EXP)
permethrin  (ISO)
peroxynitrous acid  (ISO)
phencyclidine  (ISO)
phenobarbital  (ISO)
phenylpropanolamine  (ISO)
PhIP  (ISO)
phlorizin  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
phosphamidon  (ISO)
pirfenidone  (ISO)
pirinixic acid  (ISO)
porphyrins  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
probucol  (ISO)
propanal  (EXP)
prostaglandin E2  (ISO)
prostaglandin F2alpha  (ISO)
pterostilbene  (EXP)
Pyridostigmine bromide  (EXP)
pyrimethanil  (EXP)
pyrrolidine dithiocarbamate  (ISO)
quercetin  (EXP,ISO)
raspberry ketone  (ISO)
reactive oxygen species  (EXP,ISO)
resolvin D1  (ISO)
resveratrol  (EXP,ISO)
rosmarinic acid  (EXP)
rotenone  (EXP,ISO)
rutin  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP,ISO)
S-nitroso-N-acetyl-D-penicillamine  (ISO)
SB 203580  (EXP)
SB 431542  (EXP)
Se-methyl-L-selenocysteine  (EXP)
Se-methylselenocysteine  (EXP)
selenic acid  (EXP,ISO)
selenium atom  (EXP,ISO)
selenomethionine  (EXP,ISO)
silicic acid  (ISO)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
silver(1+) nitrate  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium chloride  (ISO)
sodium dichromate  (EXP,ISO)
sodium fluoride  (ISO)
sterigmatocystin  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
sulfur dioxide  (EXP)
T-2 toxin  (ISO)
tamibarotene  (EXP)
tert-butyl ethyl ether  (ISO)
tert-butyl hydroperoxide  (EXP,ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thalidomide  (ISO)
theophylline  (ISO)
thiacloprid  (ISO)
thiamethoxam  (ISO)
thioacetamide  (ISO)
thiomalic acid  (EXP)
thymoquinone  (ISO)
thyroxine  (ISO)
titanium atom  (ISO)
titanium dioxide  (ISO)
tributyl phosphate  (ISO)
Tributyltin oxide  (ISO)
triclosan  (EXP)
trilobatin  (ISO)
triolein  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
tris(2-butoxyethyl) phosphate  (ISO)
tris(2-chloroethyl) phosphate  (ISO)
troglitazone  (EXP,ISO)
uranium atom  (EXP,ISO)
usnic acid  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP,ISO)
water  (ISO)
zearalenone  (ISO)
zerumbone  (ISO)
zinc acetate  (EXP)
zinc atom  (ISO)
zinc pyrithione  (EXP)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aging  (IEA,ISO)
angiogenesis involved in wound healing  (IEA,ISO)
apoptotic process  (ISO)
arachidonic acid metabolic process  (IDA)
biological process involved in interaction with symbiont  (IEA,ISO)
blood vessel endothelial cell migration  (IEA,ISO)
cell population proliferation  (ISO)
cell redox homeostasis  (IDA)
cellular oxidant detoxification  (IEA)
cellular response to glucose stimulus  (IEA,ISO)
cellular response to oxidative stress  (NAS)
endothelial cell development  (IEA,ISO)
fat cell differentiation  (IEA,ISO)
glutathione metabolic process  (IBA,IDA,ISO)
heart contraction  (IMP,ISO)
hydrogen peroxide catabolic process  (IBA,IDA,ISO)
intrinsic apoptotic signaling pathway in response to oxidative stress  (IEA,ISO)
lipid metabolic process  (ISO)
lipoxygenase pathway  (IDA)
myoblast proliferation  (IEA,ISO)
myotube differentiation  (ISO)
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  (IMP)
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  (IMP)
negative regulation of inflammatory response to antigenic stimulus  (IEA,ISO)
negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  (IEA,ISO)
negative regulation of release of cytochrome c from mitochondria  (IMP)
neuron apoptotic process  (IEA,ISO)
positive regulation of protein kinase B signaling  (IEA,ISO)
positive regulation of supramolecular fiber organization  (ISS)
protein oxidation  (IEA,ISO)
regulation of gene expression, epigenetic  (IDA)
regulation of mammary gland epithelial cell proliferation  (IMP)
regulation of proteasomal protein catabolic process  (IDA)
response to estradiol  (IEA,ISO)
response to folic acid  (IEA,ISO)
response to gamma radiation  (IEA,ISO)
response to glucose  (ISO)
response to hormone  (IEA,ISO)
response to hydrogen peroxide  (IBA,IMP,ISO)
response to hydroperoxide  (IEA,ISO)
response to nicotine  (IEA,ISO)
response to organic cyclic compound  (ISO)
response to oxidative stress  (IEA,ISO)
response to reactive oxygen species  (ISO)
response to selenium ion  (IBA,IMP,ISO)
response to symbiotic bacterium  (IEA,ISO)
response to toxic substance  (ISO)
response to wounding  (ISO)
response to xenobiotic stimulus  (IEA,ISO)
sensory perception of sound  (IEA,ISO)
skeletal muscle fiber development  (IEA,ISO)
skeletal muscle tissue regeneration  (IEA,ISO)
temperature homeostasis  (IEA,ISO)
triglyceride metabolic process  (IEA,ISO)
UV protection  (IMP)
vasodilation  (IEA,ISO)

Cellular Component
cytoplasm  (IDA)
cytosol  (IBA,ISO,TAS)
Lewy body  (IDA)
mitochondrial matrix  (TAS)
mitochondrion  (IBA,IDA,ISO)
nucleus  (IEA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
acetylsalicylic acid pharmacodynamics pathway  (EXP)
amyotrophic lateral sclerosis pathway  (IEA)
antipyrine drug pathway  (EXP)
arachidonic acid metabolic pathway  (EXP,IEA)
celecoxib pharmacodynamics pathway  (EXP)
diclofenac pharmacodynamics pathway  (EXP)
diflunisal pharmacodynamics pathway  (EXP)
etodolac pharmacodynamics pathway  (EXP)
fenoprofen pharmacodynamics pathway  (EXP)
flurbiprofen pharmacodynamics pathway  (EXP)
glutathione metabolic pathway  (EXP,IEA)
glutathione synthase deficiency pathway  (EXP)
glutathionuria disease pathway  (EXP)
Huntington's disease pathway  (IEA)
ibuprofen pharmacodynamics pathway  (EXP)
indometacin pharmacodynamics pathway  (EXP)
indometacin pharmacodynamics pathway  (EXP)
ketoprofen pharmacodynamics pathway  (EXP)
ketorolac pharmacodynamics pathway  (EXP)
leukotriene C4 synthase deficiency pathway  (EXP)
lornoxicam pharmacodynamics pathway  (EXP)
magnesium salicylate pharmacodynamics pathway  (EXP)
mefenamic acid pharmacodynamics pathway  (EXP)
meloxicam pharmacodynamics pathway  (EXP)
nabumetone pharmacodynamics pathway  (EXP)
naproxen pharmacodynamics pathway  (EXP)
paracetamol drug pathway  (EXP)
piroxicam pharmacodynamics pathway  (EXP)
salicylic acid pharmacodynamics pathway  (EXP)
sodium salicylate pharmacodynamics pathway  (EXP)
sulindac pharmacodynamics pathway  (EXP)
tenoxicam pharmacodynamics pathway  (EXP)
tiaprofenic acid pharmacodynamics pathway  (EXP)
tolmetin pharmacodynamics pathway  (EXP)
valdecoxib pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. Almondes KG, etal., Nutrition. 2014 May;30(5):563-8. doi: 10.1016/j.nut.2013.10.012. Epub 2013 Oct 30.
2. Arruda VR, etal., Neoplasma. 1996;43(2):99-102.
3. Banescu C, etal., Oxid Med Cell Longev. 2014;2014:875861. doi: 10.1155/2014/875861. Epub 2014 Nov 11.
4. Banescu C, etal., Oxid Med Cell Longev. 2016;2016:2536705. doi: 10.1155/2016/2536705. Epub 2015 Dec 28.
5. Barati MT, etal., Am J Physiol Renal Physiol. 2007 Oct;293(4):F1157-65. Epub 2007 Jul 3.
6. Barr PM, etal., Blood. 2014 Aug 21;124(8):1259-65. doi: 10.1182/blood-2014-04-570044. Epub 2014 Jul 11.
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Additional References at PubMed
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Genomics

Comparative Map Data
GPX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl349,357,176 - 49,358,353 (-)EnsemblGRCh38hg38GRCh38
GRCh38349,357,176 - 49,358,353 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37349,394,609 - 49,395,786 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36349,369,613 - 49,370,795 (-)NCBINCBI36hg18NCBI36
Build 34349,369,614 - 49,370,795NCBI
Celera349,359,484 - 49,360,663 (-)NCBI
Cytogenetic Map3p21.31NCBI
HuRef349,454,091 - 49,455,270 (-)NCBIHuRef
CHM1_1349,347,422 - 49,348,601 (-)NCBICHM1_1
Gpx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399108,216,279 - 108,217,541 (+)NCBIGRCm39mm39
GRCm39 Ensembl9108,216,102 - 108,217,542 (+)Ensembl
GRCm389108,339,080 - 108,340,342 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9108,338,903 - 108,340,343 (+)EnsemblGRCm38mm10GRCm38
MGSCv379108,241,607 - 108,242,671 (+)NCBIGRCm37mm9NCBIm37
MGSCv369108,197,368 - 108,198,432 (+)NCBImm8
Celera9107,948,378 - 107,949,442 (+)NCBICelera
Cytogenetic Map9F2NCBI
cM Map959.24NCBI
Gpx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.28109,026,905 - 109,028,031 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl8109,026,905 - 109,028,024 (+)Ensembl
Rnor_6.08117,117,430 - 117,118,528 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8117,117,430 - 117,118,522 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08116,466,118 - 116,467,216 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera8108,329,847 - 108,330,945 (+)ENTREZGENECelera
Cytogenetic Map8q32NCBI
Gpx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555321,298,336 - 1,298,830 (-)NCBIChiLan1.0ChiLan1.0
GPX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1350,360,736 - 50,362,274 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl350,360,947 - 50,361,826 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0349,280,038 - 49,281,455 (-)NCBIMhudiblu_PPA_v0panPan3
GPX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12039,889,165 - 39,890,253 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2039,889,174 - 39,890,260 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2039,807,516 - 39,808,604 (+)NCBI
ROS_Cfam_1.02040,245,494 - 40,246,582 (+)NCBI
UMICH_Zoey_3.12039,612,973 - 39,614,061 (+)NCBI
UNSW_CanFamBas_1.02040,016,432 - 40,017,520 (+)NCBI
UU_Cfam_GSD_1.02040,296,220 - 40,297,308 (+)NCBI
Gpx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560264,237,446 - 64,238,592 (-)NCBI
SpeTri2.0NW_004936529997,943 - 999,123 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GPX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1331,914,932 - 31,917,335 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11331,916,269 - 31,917,337 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21335,147,277 - 35,148,345 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GPX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12210,754,976 - 10,756,617 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041156,259,200 - 156,261,033 (+)NCBIVero_WHO_p1.0
Gpx1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247303,313,773 - 3,314,870 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
A004T30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,396,588 - 49,396,834UniSTSGRCh37
Build 36349,371,592 - 49,371,838RGDNCBI36
Celera349,361,460 - 49,361,706RGD
Cytogenetic Map3p21.3UniSTS
HuRef349,456,067 - 49,456,313UniSTS
GeneMap99-GB4 RH Map3158.62UniSTS
Whitehead-RH Map3195.2UniSTS
RH91501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,396,766 - 49,396,917UniSTSGRCh37
Build 36349,371,770 - 49,371,921RGDNCBI36
Celera349,361,638 - 49,361,789RGD
Cytogenetic Map3p21.3UniSTS
HuRef349,456,245 - 49,456,396UniSTS
GeneMap99-GB4 RH Map3158.23UniSTS
G60181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,397,205 - 49,397,486UniSTSGRCh37
Build 36349,372,209 - 49,372,490RGDNCBI36
Celera349,362,077 - 49,362,358RGD
Cytogenetic Map3p21.3UniSTS
HuRef349,456,684 - 49,456,965UniSTS
TNG Radiation Hybrid Map330793.0UniSTS
D3S1330E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,397,032 - 49,397,140UniSTSGRCh37
Build 36349,372,036 - 49,372,144RGDNCBI36
Celera349,361,904 - 49,362,012RGD
Cytogenetic Map3p21.3UniSTS
HuRef349,456,511 - 49,456,619UniSTS
GDB:181197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,397,382 - 49,397,590UniSTSGRCh37
Build 36349,372,386 - 49,372,594RGDNCBI36
Celera349,362,254 - 49,362,462RGD
Cytogenetic Map3p21.3UniSTS
HuRef349,456,861 - 49,457,069UniSTS
GDB:181211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,394,613 - 49,394,793UniSTSGRCh37
GRCh37X13,396,648 - 13,396,826UniSTSGRCh37
Build 36X13,306,569 - 13,306,747RGDNCBI36
Celera349,359,488 - 49,359,668UniSTS
CeleraX17,514,347 - 17,514,525RGD
Cytogenetic Map3p21.3UniSTS
Cytogenetic MapXp22.2UniSTS
HuRef349,454,095 - 49,454,275UniSTS
RH45222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,394,670 - 49,394,793UniSTSGRCh37
Build 36349,369,674 - 49,369,797RGDNCBI36
Celera349,359,545 - 49,359,668RGD
Cytogenetic Map3p21.3UniSTS
HuRef349,454,152 - 49,454,275UniSTS
GeneMap99-GB4 RH Map3158.12UniSTS
NCBI RH Map3484.2UniSTS
WI-18922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,396,678 - 49,396,825UniSTSGRCh37
Build 36349,371,682 - 49,371,829RGDNCBI36
Celera349,361,550 - 49,361,697RGD
Cytogenetic Map3p21.3UniSTS
HuRef349,456,157 - 49,456,304UniSTS
GeneMap99-GB4 RH Map3158.23UniSTS
Whitehead-RH Map3195.2UniSTS
G34714  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p21.3UniSTS
SHGC-76946  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p21.3UniSTS
TNG Radiation Hybrid Map217002.0UniSTS
GeneMap99-GB4 RH Map3157.89UniSTS
Whitehead-RH Map3195.2UniSTS
D21S1961  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p21.3UniSTS
Whitehead-YAC Contig Map21 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1166
Count of miRNA genes:539
Interacting mature miRNAs:585
Transcripts:ENST00000419349, ENST00000419783, ENST00000496791
Prediction methods:Microtar, Miranda, Rnahybrid
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 5 64 9 6 71 6 9 2 9 15 80 15 10
Medium 2423 2919 1714 616 1866 458 4342 2189 3699 403 1362 1583 171 1194 2788 4
Low 9 5 3 1 6 1 2 5 23 1 17 11 4 1 1 1
Below cutoff 2 1 7 4 1 3 1 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_051308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC121247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF029317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW079514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY327818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI906726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP205653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP213008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA583406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA730294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M21304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M83094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000419349   ⟹   ENSP00000391316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl349,357,178 - 49,358,312 (-)Ensembl
RefSeq Acc Id: ENST00000419783   ⟹   ENSP00000407375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl349,357,176 - 49,358,353 (-)Ensembl
RefSeq Acc Id: ENST00000496791   ⟹   ENSP00000493593
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl349,357,608 - 49,358,325 (-)Ensembl
RefSeq Acc Id: ENST00000620890   ⟹   ENSP00000478837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl349,357,180 - 49,358,358 (-)Ensembl
RefSeq Acc Id: ENST00000643797   ⟹   ENSP00000495108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl349,357,201 - 49,358,325 (-)Ensembl
RefSeq Acc Id: ENST00000646881   ⟹   ENSP00000495001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl349,357,477 - 49,358,325 (-)Ensembl
RefSeq Acc Id: NM_000581   ⟹   NP_000572
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,357,176 - 49,358,353 (-)NCBI
GRCh37349,394,609 - 49,395,791 (-)ENTREZGENE
Build 36349,369,613 - 49,370,795 (-)NCBI Archive
HuRef349,454,091 - 49,455,270 (-)ENTREZGENE
CHM1_1349,347,422 - 49,348,601 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329455   ⟹   NP_001316384
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,357,176 - 49,358,353 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329502   ⟹   NP_001316431
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,357,176 - 49,358,353 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329503   ⟹   NP_001316432
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,357,176 - 49,358,353 (-)NCBI
Sequence:
RefSeq Acc Id: NM_201397   ⟹   NP_958799
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,357,176 - 49,358,353 (-)NCBI
GRCh37349,394,609 - 49,395,791 (-)ENTREZGENE
Build 36349,369,613 - 49,370,795 (-)NCBI Archive
HuRef349,454,091 - 49,455,270 (-)ENTREZGENE
CHM1_1349,347,422 - 49,348,601 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000572   ⟸   NM_000581
- Peptide Label: isoform 1
- UniProtKB: P07203 (UniProtKB/Swiss-Prot),   Q7L4Q3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_958799   ⟸   NM_201397
- Peptide Label: isoform 2
- UniProtKB: Q7L4Q3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316384   ⟸   NM_001329455
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001316432   ⟸   NM_001329503
- Peptide Label: isoform 4
- UniProtKB: Q7L4Q3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316431   ⟸   NM_001329502
- Peptide Label: isoform 3
- UniProtKB: Q7L4Q3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000478837   ⟸   ENST00000620890
RefSeq Acc Id: ENSP00000493593   ⟸   ENST00000496791
RefSeq Acc Id: ENSP00000407375   ⟸   ENST00000419783
RefSeq Acc Id: ENSP00000391316   ⟸   ENST00000419349
RefSeq Acc Id: ENSP00000495108   ⟸   ENST00000643797
RefSeq Acc Id: ENSP00000495001   ⟸   ENST00000646881

Promoters
RGD ID:6864400
Promoter ID:EPDNEW_H5365
Type:initiation region
Name:GPX1_1
Description:glutathione peroxidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,358,325 - 49,358,385EPDNEW
RGD ID:6801105
Promoter ID:HG_KWN:45030
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000346154,   OTTHUMT00000346156
Position:
Human AssemblyChrPosition (strand)Source
Build 36349,370,611 - 49,371,111 (-)MPROMDB
RGD ID:6850534
Promoter ID:EP73058
Type:multiple initiation site
Name:HS_GPX1
Description:Glutathione peroxidase 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36349,370,762 - 49,370,822EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000581.4(GPX1):c.599C>T (p.Pro200Leu) single nucleotide variant GLUTATHIONE PEROXIDASE POLYMORPHISM [RCV000017462]|not provided [RCV001675582] Chr3:49357401 [GRCh38]
Chr3:49394834 [GRCh37]
Chr3:3p21.31
benign
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 copy number gain See cases [RCV000133650] Chr3:45879883..50749922 [GRCh38]
Chr3:45921375..50787353 [GRCh37]
Chr3:45896379..50762357 [NCBI36]
Chr3:3p21.31-21.2
pathogenic
GRCh38/hg38 3p21.31(chr3:49171381-49474635)x3 copy number gain See cases [RCV000143511] Chr3:49171381..49474635 [GRCh38]
Chr3:49208814..49512068 [GRCh37]
Chr3:49183818..49487072 [NCBI36]
Chr3:3p21.31
uncertain significance
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 copy number gain See cases [RCV000240519] Chr3:37028313..49929220 [GRCh37]
Chr3:3p22.2-21.31
likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000581.4(GPX1):c.231G>T (p.Pro77=) single nucleotide variant not provided [RCV000965636] Chr3:49358048 [GRCh38]
Chr3:49395481 [GRCh37]
Chr3:3p21.31
benign
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1
pathogenic
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001660782] Chr3:49358324 [GRCh38]
Chr3:49395757 [GRCh37]
Chr3:3p21.31
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, duplication not provided [RCV001639125] Chr3:49357107..49357108 [GRCh38]
Chr3:49394540..49394541 [GRCh37]
Chr3:3p21.31
benign
GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1 copy number loss not provided [RCV001005432] Chr3:48346677..49630228 [GRCh37]
Chr3:3p21.31
pathogenic
NC_000003.12:g.(?_49121216)_(49533209_?)del deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 [RCV001033498]|Pierson syndrome [RCV001384888] Chr3:49158649..49570642 [GRCh37]
Chr3:3p21.31
pathogenic
null microsatellite not provided [RCV001694432] Chr3:49358241..49358246 [GRCh38]
Chr3:49395674..49395679 [GRCh37]
Chr3:3p21.31
benign
GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1 copy number loss not provided [RCV001259686] Chr3:48807193..51363558 [GRCh37]
Chr3:3p21.31-21.2
pathogenic
NC_000003.11:g.(?_48507870)_(50340407_?)del deletion Aicardi Goutieres syndrome 1 [RCV001380369] Chr3:48507870..50340407 [GRCh37]
Chr3:3p21.31
pathogenic
null microsatellite not provided [RCV001614950] Chr3:49358241..49358243 [GRCh38]
Chr3:49395674..49395676 [GRCh37]
Chr3:3p21.31
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4553 AgrOrtholog
COSMIC GPX1 COSMIC
Ensembl Genes ENSG00000233276 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000391316 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000407375 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000493593 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000495001 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000495108 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000419349 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000419783 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000496791 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000643797 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000646881 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000233276 GTEx
HGNC ID HGNC:4553 ENTREZGENE
Human Proteome Map GPX1 Human Proteome Map
InterPro Glutathione_peroxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPX_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPX_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2876 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2876 ENTREZGENE
OMIM 138320 OMIM
  614164 OMIM
PANTHER PTHR11592 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GSHPx UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB GPX1 RGD, PharmGKB
PIRSF Glutathion_perox UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS GLUTPROXDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GLUTATHIONE_PEROXID_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLUTATHIONE_PEROXID_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLUTATHIONE_PEROXID_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R2T1_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6B6_HUMAN UniProtKB/TrEMBL
  A0A7I2UQ36_HUMAN UniProtKB/TrEMBL
  A0A7I2YMD7_HUMAN UniProtKB/TrEMBL
  GPX1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6NSD4_HUMAN UniProtKB/TrEMBL
  Q7L4Q3 ENTREZGENE, UniProtKB/TrEMBL
  X5D926_HUMAN UniProtKB/TrEMBL
  X5DQZ7_HUMAN UniProtKB/TrEMBL
UniProt Secondary E9PAS1 UniProtKB/Swiss-Prot
  Q7Z5H1 UniProtKB/Swiss-Prot
  Q9BW12 UniProtKB/Swiss-Prot