1. Gene
  2. GPX4 - glutathione peroxidase 4 Gene

GPX4 - glutathione peroxidase 4 Gene

Homo sapiens

Also known as MCSP; SMDS; GPx-4; PHGPx; snGPx; GSHPx-4; snPHGPx

Gene ID: 2879 | Gene type: protein coding

About GPX4

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,103,994-1,106,779 (from NCBI)

This gene has 11 transcripts (splice variants), 162 orthologues, 7 paralogues and is associated with 3 phenotypes. Broad expression in fat (RPKM 347.9), testis (RPKM 229.8) and 24 other tissues.

Summary

The protein encoded by this gene belongs to the Glutathione Peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme has a high preference for lipid hydroperoxides and protects cells against membrane lipid peroxidation and cell death. It is also required for normal sperm development; thus, it has been identified as a 'moonlighting' protein because of its ability to serve dual functions as a peroxidase, as well as a structural protein in mature spermatozoa. Mutations in this gene are associated with Sedaghatian type of spondylometaphyseal dysplasia (SMDS). This isozyme 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. Transcript variants resulting from alternative splicing or use of alternate promoters have been described to encode isoforms with different subcellular localization. [provided by RefSeq, Dec 2018]

GPX4 Products(4)

mRNA Protein Name
NM_001039847.3 NP_001034936.1 phospholipid hydroperoxide glutathione peroxidase isoform B precursor
NM_001039848.4 NP_001034937.1 phospholipid hydroperoxide glutathione peroxidase isoform C
NM_001367832.1 NP_001354761.1 phospholipid hydroperoxide glutathione peroxidase isoform D
NM_002085.5 NP_002076.2 phospholipid hydroperoxide glutathione peroxidase isoform A precursor

GPX4 Protein Structure

GSHPx

GSHPx: Glutathione peroxidase (41 - 148)

  • 0
  • 100
  • 197 a.a.
Protein Preferred Names Protein Names

phospholipid hydroperoxide glutathione peroxidase

epididymis secretory sperm binding protein

Related Diseases

Diseases Alias
Spondylometaphyseal Dysplasia, Sedaghatian Type

SMDS

Sedaghatian Chondrodysplasia

Spondylometaphyseal Dysplasia Sedaghatian Type

Congenital Lethal Metaphyseal Chondrodysplasia

Metaphyseal Chondrodysplasia, Congenital Lethal

Lethal Metaphyseal Dysplasia

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2d

Pcca

PCH2D

Progressive Cerebello-Cerebral Atrophy

Cerebellocerebral Atrophy, Progressive

Pontocerebellar Hypoplasia 2d

Progressive Cerebellocerebral Atrophy

Hypoplasia, Pontocerebellar, Type 2d

Gum Cancer

Malignant Neoplasm Of Gum

Malignant Tumor Of Gum

Malignant Gingival Tumor

Malignant Neoplasm Of Other Sites Of Gum

Malignant Tumour Of Gingiva

Infertility
Encephalomalacia
Periventricular Leukomalacia

Leukomalacia, Periventricular

Pvl

Leukomalacia Periventricular

Spondyloepimetaphyseal Dysplasia, Strudwick Type

Spondylometaphyseal Dysplasia

Strudwick Syndrome

Dappled Metaphysis Syndrome

Semd, Strudwick Type

Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type

Smed, Strudwick Type

Smd

Smed Strudwick Type

SEMDSTWK

Smed, Type I

Semdc

Smed Type 1

Spondyloepimetaphyseal Dysplasia Strudwick Type

Sed Strudwick

Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type

Smed Type I

Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses

Dysplasia, Spondyloepimetaphyseal, Strudwick Type

Dysplasia, Spondylometaphyseal

Fanconi Anemia, Complementation Group D2

Fanconi Anemia Complementation Group D2

FANCD2

Fad2

Fa4

Fancd

Fanconi Pancytopenia Type 4

Fanconi Anemia, Complementation Group D

Fanconi Pancytopenia, Type 4

Facd

Fanconi Anemia Complementation Group D

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus GPX4 MGD MGI:104767
Rattus norvegicus GPX4 RGD RGD:69226
Bos taurus GPX4 VGNC VGNC:106759
Felis catus GPX4 VGNC VGNC:80055