Gene Gene information from NCBI Gene database.
Entrez ID 2876
Gene name Glutathione peroxidase 1
Gene symbol GPX1
Synonyms (NCBI Gene)
GPXDGSHPX1
Chromosome 3
Chromosome location 3p21.31
Summary 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
miRNA miRNA information provided by mirtarbase database.
137
miRTarBase ID miRNA Experiments Reference
MIRT040633 hsa-miR-92b-3p CLASH 23622248
MIRT512631 hsa-miR-1911-3p PAR-CLIP 20371350
MIRT512629 hsa-miR-4259 PAR-CLIP 20371350
MIRT512630 hsa-miR-4733-3p PAR-CLIP 20371350
MIRT568884 hsa-miR-8060 PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
TFAP2C Activation 22964634
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
89
GO ID Ontology Definition Evidence Reference
GO:0000302 Process Response to reactive oxygen species IEA
GO:0001659 Process Temperature homeostasis IEA
GO:0001885 Process Endothelial cell development IEA
GO:0002862 Process Negative regulation of inflammatory response to antigenic stimulus IEA
GO:0004601 Function Peroxidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
138320 4553 ENSG00000233276
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P07203
Protein name Glutathione peroxidase 1 (GPx-1) (GSHPx-1) (EC 1.11.1.9) (Cellular glutathione peroxidase) (Phospholipid-hydroperoxide glutathione peroxidase GPX1) (EC 1.11.1.12)
Protein function Catalyzes the reduction of hydroperoxides in a glutathione-dependent manner thus regulating cellular redox homeostasis (PubMed:11115402, PubMed:36608588). Can reduce small soluble hydroperoxides such as H2O2, cumene hydroperoxide and tert-butyl
PDB 2F8A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00255 GSHPx 16 130 Glutathione peroxidase Family
Tissue specificity TISSUE SPECIFICITY: Expressed in platelets (at protein level). {ECO:0000269|PubMed:11115402}.
Sequence
MCAARLAAAAAAAQSVYAFSARPLAGGEPVSLGSLRGKVLLIENVASLUGTTVRDYTQMN
ELQRRLGPRGLVVLGFPCNQFGHQENAKNEEILNSLKYVRPGGGFEPNFMLFEKCEVNGA
GAHPLFAFLR
EALPAPSDDATALMTDPKLITWSPVCRNDVAWNFEKFLVGPDGVPLRRYS
RRFQTIDIEPDIEALLSQGPSCA
Sequence length 203
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glutathione metabolism
Metabolic pathways
Thyroid hormone synthesis
Amyotrophic lateral sclerosis
Huntington disease
Pathways of neurodegeneration - multiple diseases
  Synthesis of 12-eicosatetraenoic acid derivatives
Synthesis of 15-eicosatetraenoic acid derivatives
Detoxification of Reactive Oxygen Species
Purine catabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
24
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gluthathione peroxidase deficiency Uncertain significance; Benign rs778272154, rs201091540, rs777715410, rs375013032, rs752321532, rs548384931, rs17838762, rs762298249, rs746367588, rs761821693, rs770771558, rs986433349, rs1043210477, rs1204626735, rs2047862868
View all (6 more)
RCV005636798
RCV003130883
RCV003135268
RCV005636820
RCV003135441
RCV003135442
RCV003142564
RCV003131069
RCV003135443
RCV003135445
RCV003131070
RCV003135446
RCV003135447
RCV003142565
RCV003486097
RCV003486098
RCV003486099
RCV003486100
RCV003486101
RCV003486102
RCV002496389
GPX1 POLYMORPHISM Benign rs1050450 RCV000017462
GPX1-related disorder Benign rs6446261, rs8179169 RCV003981243
RCV003964352
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 40631607
Anemia Sickle Cell Inhibit 19951064
Ataxia Telangiectasia Associate 25882094
Atherosclerosis Associate 21852236
Autism Spectrum Disorder Associate 34997988
Autistic Disorder Associate 34997988
Balkan Nephropathy Associate 31382611
Barrett Esophagus Associate 24852569
Blood Coagulation Disorders Associate 35361071
Brain Neoplasms Associate 33085656