GPX4 - glutathione peroxidase 4 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2879

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
Molecular Function GO Annotation Evidence References Source
enables glutathione peroxidase activity IDA
IDA: Inferred from direct assay
36608588 GOA
enables glutathione peroxidase activity IMP
IMP: Inferred from mutant phenotype
17630701 GOA
enables identical protein binding IMP
IMP: Inferred from mutant phenotype
17630701 GOA
enables phospholipid-hydroperoxide glutathione peroxidase activity IDA
IDA: Inferred from direct assay
11115402 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23355646 GOA
Biological Process GO Annotation Evidence References Source
involved in arachidonate metabolic process IDA
IDA: Inferred from direct assay
11115402 GOA
involved in lipoxygenase pathway IDA
IDA: Inferred from direct assay
11115402 GOA
involved in protein polymerization IMP
IMP: Inferred from mutant phenotype
17630701 GOA
Cellular Component GO Annotation Evidence References Source
located in cytosol IDA
IDA: Inferred from direct assay
11115402 GOA
part of protein-containing complex IMP
IMP: Inferred from mutant phenotype
17630701 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

GPX4 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80450 GPX4 Antibody (YA399) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat
HY-P80450A GPX4 Antibody (YA399)(PBS only) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat
HY-P80692 GPX4 Antibody WB, IHC-F, IHC-P, ICC/IF Human, Mouse, Rat
HY-P80692A GPX4 Antibody (YA9649)(PBS only) WB, IHC-F, IHC-P, ICC/IF Human, Mouse, Rat
HY-P86239 GPX4 Antibody (YA5931) WB, ICC/IF, IP, ELISA Human, Mouse, Rat

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
Others GPX4 NCBI