Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 2876
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol GPX1   Gene   UCSC   Ensembl
Aliases GPXD, GSHPX1
Gene name glutathione peroxidase 1
Alternate names glutathione peroxidase 1, GSHPx-1, cellular glutathione peroxidase,
Gene location 3p21.31 (49358357: 49357175)     Exons: 2     NC_000003.12
Gene summary(Entrez) The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Other studies indicate that H2O2 is also essential for growth-factor mediated signal transduction, mitochondrial function, and maintenance of thiol redox-balance; therefore, by limiting H2O2 accumulation, glutathione peroxidases are also involved in modulating these processes. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is the most abundant, is ubiquitously expressed and localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. It is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. This gene contains an in-frame GCG trinucleotide repeat in the coding region, and three alleles with 4, 5 or 6 repeats have been found in the human population. The allele with 4 GCG repeats has been significantly associated with breast cancer risk in premenopausal women. Alternatively spliced transcript variants and multiple pseudogenes of this gene have been identified. [provided by RefSeq, Jul 2016]
OMIM 138320

Protein Summary
Protein general information P07203  

Name: Glutathione peroxidase 1 (GPx 1) (GSHPx 1) (EC 1.11.1.9) (Cellular glutathione peroxidase)

Length: 203  Mass: 22,088

Sequence MCAARLAAAAAAAQSVYAFSARPLAGGEPVSLGSLRGKVLLIENVASLUGTTVRDYTQMNELQRRLGPRGLVVLG
FPCNQFGHQENAKNEEILNSLKYVRPGGGFEPNFMLFEKCEVNGAGAHPLFAFLREALPAPSDDATALMTDPKLI
TWSPVCRNDVAWNFEKFLVGPDGVPLRRYSRRFQTIDIEPDIEALLSQGPSCA
Structural information
Interpro:  IPR000889 IPR029759 IPR029760 IPR012336
Prosite:   PS00460 PS00763 PS51355

Pfam:  		 PF00255
CDD:   cd00340

PDB:  		 2F8A
PDBsum:   2F8A
STRING:   ENSP00000407375;
Other Databases GeneCards:  GPX1;  Malacards:  GPX1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000302 response to reactive oxyg
en species
 TAS biological_process
GO:0001659 temperature homeostasis
 IEA biological_process
GO:0001885 endothelial cell developm
ent
 IEA biological_process
GO:0002862 negative regulation of in
flammatory response to an
tigenic stimulus
 IEA biological_process
GO:0004602 glutathione peroxidase ac
tivity
 IDA molecular_function
GO:0004602 glutathione peroxidase ac
tivity
 TAS molecular_function
GO:0004602 glutathione peroxidase ac
tivity
 TAS molecular_function
GO:0004602 glutathione peroxidase ac
tivity
 TAS molecular_function
GO:0004602 glutathione peroxidase ac
tivity
 TAS molecular_function
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005739 mitochondrion
 IDA cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0006195 purine nucleotide catabol
ic process
 TAS biological_process
GO:0006641 triglyceride metabolic pr
ocess
 IEA biological_process
GO:0006749 glutathione metabolic pro
cess
 IDA biological_process
GO:0007605 sensory perception of sou
nd
 IEA biological_process
GO:0008631 intrinsic apoptotic signa
ling pathway in response
to oxidative stress
 IEA biological_process
GO:0009410 response to xenobiotic st
imulus
 IEA biological_process
GO:0009609 response to symbiotic bac
terium
 IEA biological_process
GO:0009650 UV protection
 IMP biological_process
GO:0010269 response to selenium ion
 IMP biological_process
GO:0010332 response to gamma radiati
on
 IEA biological_process
GO:0017124 SH3 domain binding
 IPI molecular_function
GO:0018158 protein oxidation
 IEA biological_process
GO:0019372 lipoxygenase pathway
 TAS biological_process
GO:0033194 response to hydroperoxide
 IEA biological_process
GO:0033599 regulation of mammary gla
nd epithelial cell prolif
eration
 IMP biological_process
GO:0034599 cellular response to oxid
ative stress
 NAS biological_process
GO:0040029 regulation of gene expres
sion, epigenetic
 IDA biological_process
GO:0042311 vasodilation
 IEA biological_process
GO:0042542 response to hydrogen pero
xide
 IMP biological_process
GO:0042744 hydrogen peroxide catabol
ic process
 IDA biological_process
GO:0043154 negative regulation of cy
steine-type endopeptidase
activity involved in apo
ptotic process
 IMP biological_process
GO:0043403 skeletal muscle tissue re
generation
 IEA biological_process
GO:0043523 regulation of neuron apop
totic process
 IEA biological_process
GO:0043534 blood vessel endothelial
cell migration
 IEA biological_process
GO:0045444 fat cell differentiation
 IEA biological_process
GO:0045454 cell redox homeostasis
 IDA biological_process
GO:0048741 skeletal muscle fiber dev
elopment
 IEA biological_process
GO:0051450 myoblast proliferation
 IEA biological_process
GO:0051702 interaction with symbiont
 IEA biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
 IEA biological_process
GO:0060047 heart contraction
 IMP biological_process
GO:0060055 angiogenesis involved in
wound healing
 IEA biological_process
GO:0061136 regulation of proteasomal
protein catabolic proces
s
 IDA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0090201 negative regulation of re
lease of cytochrome c fro
m mitochondria
 IMP biological_process
GO:0098869 cellular oxidant detoxifi
cation
 IEA biological_process
GO:1902042 negative regulation of ex
trinsic apoptotic signali
ng pathway via death doma
in receptors
 IMP biological_process
GO:1902176 negative regulation of ox
idative stress-induced in
trinsic apoptotic signali
ng pathway
 IEA biological_process
GO:1902905 positive regulation of su
pramolecular fiber organi
zation
 ISS biological_process
GO:0097413 Lewy body
 IDA cellular_component
GO:0000302 response to reactive oxyg
en species
 IEA biological_process
GO:0000302 response to reactive oxyg
en species
 TAS biological_process
GO:0001659 temperature homeostasis
 IEA biological_process
GO:0001885 endothelial cell developm
ent
 IEA biological_process
GO:0002862 negative regulation of in
flammatory response to an
tigenic stimulus
 IEA biological_process
GO:0004601 peroxidase activity
 IEA molecular_function
GO:0004602 glutathione peroxidase ac
tivity
 IEA molecular_function
GO:0004602 glutathione peroxidase ac
tivity
 IEA molecular_function
GO:0004602 glutathione peroxidase ac
tivity
 IDA molecular_function
GO:0004602 glutathione peroxidase ac
tivity
 TAS molecular_function
GO:0004602 glutathione peroxidase ac
tivity
 TAS molecular_function
GO:0004602 glutathione peroxidase ac
tivity
 TAS molecular_function
GO:0004602 glutathione peroxidase ac
tivity
 TAS molecular_function
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005739 mitochondrion
 IDA cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0006195 purine nucleotide catabol
ic process
 TAS biological_process
GO:0006629 lipid metabolic process
 IEA biological_process
GO:0006641 triglyceride metabolic pr
ocess
 IEA biological_process
GO:0006749 glutathione metabolic pro
cess
 IDA biological_process
GO:0006915 apoptotic process
 IEA biological_process
GO:0006979 response to oxidative str
ess
 IEA biological_process
GO:0006979 response to oxidative str
ess
 IEA biological_process
GO:0007605 sensory perception of sou
nd
 IEA biological_process
GO:0008283 cell proliferation
 IEA biological_process
GO:0008631 intrinsic apoptotic signa
ling pathway in response
to oxidative stress
 IEA biological_process
GO:0009410 response to xenobiotic st
imulus
 IEA biological_process
GO:0009609 response to symbiotic bac
terium
 IEA biological_process
GO:0009611 response to wounding
 IEA biological_process
GO:0009636 response to toxic substan
ce
 IEA biological_process
GO:0009650 UV protection
 IMP biological_process
GO:0010269 response to selenium ion
 IMP biological_process
GO:0010332 response to gamma radiati
on
 IEA biological_process
GO:0014902 myotube differentiation
 IEA biological_process
GO:0016491 oxidoreductase activity
 IEA molecular_function
GO:0017124 SH3 domain binding
 IPI molecular_function
GO:0018158 protein oxidation
 IEA biological_process
GO:0019372 lipoxygenase pathway
 TAS biological_process
GO:0033194 response to hydroperoxide
 IEA biological_process
GO:0033599 regulation of mammary gla
nd epithelial cell prolif
eration
 IMP biological_process
GO:0034599 cellular response to oxid
ative stress
 NAS biological_process
GO:0040029 regulation of gene expres
sion, epigenetic
 IDA biological_process
GO:0042311 vasodilation
 IEA biological_process
GO:0042542 response to hydrogen pero
xide
 IMP biological_process
GO:0042744 hydrogen peroxide catabol
ic process
 IDA biological_process
GO:0043066 negative regulation of ap
optotic process
 IEA biological_process
GO:0043154 negative regulation of cy
steine-type endopeptidase
activity involved in apo
ptotic process
 IMP biological_process
GO:0043403 skeletal muscle tissue re
generation
 IEA biological_process
GO:0043523 regulation of neuron apop
totic process
 IEA biological_process
GO:0043534 blood vessel endothelial
cell migration
 IEA biological_process
GO:0045444 fat cell differentiation
 IEA biological_process
GO:0045454 cell redox homeostasis
 IDA biological_process
GO:0048741 skeletal muscle fiber dev
elopment
 IEA biological_process
GO:0051450 myoblast proliferation
 IEA biological_process
GO:0051702 interaction with symbiont
 IEA biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
 IEA biological_process
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0060047 heart contraction
 IMP biological_process
GO:0060055 angiogenesis involved in
wound healing
 IEA biological_process
GO:0061136 regulation of proteasomal
protein catabolic proces
s
 IDA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0090201 negative regulation of re
lease of cytochrome c fro
m mitochondria
 IMP biological_process
GO:0098869 cellular oxidant detoxifi
cation
 IEA biological_process
GO:1902042 negative regulation of ex
trinsic apoptotic signali
ng pathway via death doma
in receptors
 IMP biological_process
GO:1902176 negative regulation of ox
idative stress-induced in
trinsic apoptotic signali
ng pathway
 IEA biological_process
GO:1902905 positive regulation of su
pramolecular fiber organi
zation
 ISS biological_process
GO:0097413 Lewy body
 IDA cellular_component
GO:0000302 response to reactive oxyg
en species
 TAS biological_process
GO:0004602 glutathione peroxidase ac
tivity
 IDA molecular_function
GO:0004602 glutathione peroxidase ac
tivity
 TAS molecular_function
GO:0004602 glutathione peroxidase ac
tivity
 TAS molecular_function
GO:0004602 glutathione peroxidase ac
tivity
 TAS molecular_function
GO:0004602 glutathione peroxidase ac
tivity
 TAS molecular_function
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005739 mitochondrion
 IDA cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0006195 purine nucleotide catabol
ic process
 TAS biological_process
GO:0006749 glutathione metabolic pro
cess
 IDA biological_process
GO:0009650 UV protection
 IMP biological_process
GO:0010269 response to selenium ion
 IMP biological_process
GO:0017124 SH3 domain binding
 IPI molecular_function
GO:0019372 lipoxygenase pathway
 TAS biological_process
GO:0033599 regulation of mammary gla
nd epithelial cell prolif
eration
 IMP biological_process
GO:0034599 cellular response to oxid
ative stress
 NAS biological_process
GO:0040029 regulation of gene expres
sion, epigenetic
 IDA biological_process
GO:0042542 response to hydrogen pero
xide
 IMP biological_process
GO:0042744 hydrogen peroxide catabol
ic process
 IDA biological_process
GO:0043154 negative regulation of cy
steine-type endopeptidase
activity involved in apo
ptotic process
 IMP biological_process
GO:0045454 cell redox homeostasis
 IDA biological_process
GO:0060047 heart contraction
 IMP biological_process
GO:0061136 regulation of proteasomal
protein catabolic proces
s
 IDA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0090201 negative regulation of re
lease of cytochrome c fro
m mitochondria
 IMP biological_process
GO:1902042 negative regulation of ex
trinsic apoptotic signali
ng pathway via death doma
in receptors
 IMP biological_process
GO:1902905 positive regulation of su
pramolecular fiber organi
zation
 ISS biological_process
GO:0097413 Lewy body
 IDA cellular_component

KEGG pathways

hsa05016  Huntington's disease
hsa00590  Arachidonic acid metabolism
hsa05014  Amyotrophic lateral sclerosis
hsa04918  Thyroid hormone synthesis
hsa00480  Glutathione metabolism

Diseases

Associated diseases References
Asthenozoospermia PMID: 22211112
Asthma PMID: 17526193
Atherosclerosis PMID: 15167446
Autism PMID: 19195803
Azoospermia PMID: 18068167
Cancer PMID: 19692168
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Diabetes PMID: 12732844
Diabetic neuropathy PMID: 15125229
Dyskinesias PMID: 20041472
Endometriosis PMID: 10927050
Gonad development PMID: 15120973
Hemolytic anemia OMIM: 138320
Idiopathic oligoasthenozoospermia PMID: 19517995
Kidney disease PMID: 19578796
Macular degeneration PMID: 15774926
Male infertility PMID: 24082556
Metabolic syndrome PMID: 18541588
Oligozoospermia PMID: 22296823
Adenomyosis INFBASE10927050
Endometriosis INFBASE10927050
Schizophrenia PMID: 18449862

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
10927050 Endometrio
sis
114 (33 patient
s with endometr
iosis, 34 patie
nts with adenom
yosis, 47 ferti
le control subj
ects)
 GPx
 Show abstract