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Aliases for GPX4 Gene

Aliases for GPX4 Gene

  • Glutathione Peroxidase 4 2 3 4 5
  • Phospholipid Hydroperoxidase 2 3
  • EC 1.11.1.12 4 61
  • GSHPx-4 3 4
  • GPx-4 3 4
  • PHGPx 3 4
  • Phospholipid Hydroperoxide Glutathione Peroxidase, Mitochondrial 3
  • Glutathione Peroxidase 4 (Phospholipid Hydroperoxidase) 2
  • Sperm Nucleus Glutathione Peroxidase 3
  • EC 1.11.1 61
  • SnPHGPx 3
  • SnGPx 3
  • MCSP 3
  • SMDS 3

External Ids for GPX4 Gene

Previous GeneCards Identifiers for GPX4 Gene

  • GC19P001181
  • GC19P001043
  • GC19P001054
  • GC19P000878

Summaries for GPX4 Gene

Entrez Gene Summary for GPX4 Gene

  • This gene encodes a member of the glutathione peroxidase protein family. Glutathione peroxidase catalyzes the reduction of hydrogen peroxide, organic hydroperoxide, and lipid peroxides by reduced glutathione and functions in the protection of cells against oxidative damage. Human plasma glutathione peroxidase has been shown to be a selenium-containing enzyme and the UGA codon is translated into a selenocysteine. The encoded protein has been identified as a moonlighting protein based on its ability to serve dual functions as a peroxidase as well as a structural protein in mature spermatozoa. Through alternative splicing and transcription initiation, rat produces proteins that localize to the nucleus, mitochondrion, and cytoplasm. In humans, alternative transcription initiation and the cleavage sites of the mitochondrial and nuclear transit peptides need to be experimentally verified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for GPX4 Gene

GPX4 (Glutathione Peroxidase 4) is a Protein Coding gene. Diseases associated with GPX4 include Spondylometaphyseal Dysplasia, Sedaghatian Type and Neurotic Disorder. Among its related pathways are Arachidonic acid metabolism and Glutathione metabolism. GO annotations related to this gene include glutathione peroxidase activity and glutathione binding. An important paralog of this gene is GPX8.

UniProtKB/Swiss-Prot for GPX4 Gene

  • Protects cells against membrane lipid peroxidation and cell death. Required for normal sperm development and male fertility. Could play a major role in protecting mammals from the toxicity of ingested lipid hydroperoxides. Essential for embryonic development. Protects from radiation and oxidative damage. Essential for maturation and survival of photoreceptor cells. Plays a role in a primary T cell response to viral and parasitic infection by protecting T cells from ferroptosis, a cell death resulting from an iron-dependent accumulation of lipid reactive oxygen species, and by supporting T cell expansion.

Gene Wiki entry for GPX4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPX4 Gene

Genomics for GPX4 Gene

Regulatory Elements for GPX4 Gene

Enhancers for GPX4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around GPX4 on UCSC Golden Path with GeneCards custom track

Promoters for GPX4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Transcription factor binding sites by QIAGEN in the GPX4 gene promoter:

Genomic Location for GPX4 Gene

Chromosome:
19
Start:
1,103,926 bp from pter
End:
1,106,791 bp from pter
Size:
2,866 bases
Orientation:
Plus strand

Genomic View for GPX4 Gene

Genes around GPX4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPX4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPX4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPX4 Gene

Proteins for GPX4 Gene

  • Protein details for GPX4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36969-GPX4_HUMAN
    Recommended name:
    Phospholipid hydroperoxide glutathione peroxidase, mitochondrial
    Protein Accession:
    P36969
    Secondary Accessions:
    • O43381
    • Q6PJ59
    • Q9UPK2

    Protein attributes for GPX4 Gene

    Size:
    197 amino acids
    Molecular mass:
    22175 Da
    Quaternary structure:
    • Monomer. Has a tendency to form higher mass oligomers.

    Three dimensional structures from OCA and Proteopedia for GPX4 Gene

    Alternative splice isoforms for GPX4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPX4 Gene

Post-translational modifications for GPX4 Gene

  • Ubiquitination at Lys 162 and Lys 167
  • Modification sites at PhosphoSitePlus

Domains & Families for GPX4 Gene

Protein Domains for GPX4 Gene

Suggested Antigen Peptide Sequences for GPX4 Gene

Graphical View of Domain Structure for InterPro Entry

P36969

UniProtKB/Swiss-Prot:

GPX4_HUMAN :
  • Belongs to the glutathione peroxidase family.
Family:
  • Belongs to the glutathione peroxidase family.
genes like me logo Genes that share domains with GPX4: view

No data available for Gene Families for GPX4 Gene

Function for GPX4 Gene

Molecular function for GPX4 Gene

GENATLAS Biochemistry:
glutathione peroxidase 4,expressed in testis,catabolic pathway of activated oxygen species,free radical detoxification
UniProtKB/Swiss-Prot CatalyticActivity:
2 glutathione + a hydroperoxy-fatty-acyl-[lipid] = glutathione disulfide + a hydroxy-fatty-acyl-[lipid] + H(2)O.
UniProtKB/Swiss-Prot Function:
Protects cells against membrane lipid peroxidation and cell death. Required for normal sperm development and male fertility. Could play a major role in protecting mammals from the toxicity of ingested lipid hydroperoxides. Essential for embryonic development. Protects from radiation and oxidative damage. Essential for maturation and survival of photoreceptor cells. Plays a role in a primary T cell response to viral and parasitic infection by protecting T cells from ferroptosis, a cell death resulting from an iron-dependent accumulation of lipid reactive oxygen species, and by supporting T cell expansion.

Enzyme Numbers (IUBMB) for GPX4 Gene

Gene Ontology (GO) - Molecular Function for GPX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004602 glutathione peroxidase activity TAS 9705830
GO:0047066 phospholipid-hydroperoxide glutathione peroxidase activity IEA --
genes like me logo Genes that share ontologies with GPX4: view
genes like me logo Genes that share phenotypes with GPX4: view

Human Phenotype Ontology for GPX4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GPX4 Gene

MGI Knock Outs for GPX4:

Animal Model Products

CRISPR Products

miRNA for GPX4 Gene

miRTarBase miRNAs that target GPX4

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for GPX4 Gene

Localization for GPX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPX4 Gene

Isoform Mitochondrial: Mitochondrion.
Isoform Cytoplasmic: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GPX4 Gene COMPARTMENTS Subcellular localization image for GPX4 gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 5
nucleus 5
plasma membrane 3
endoplasmic reticulum 2
lysosome 2
peroxisome 2
vacuole 2
chloroplast 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for GPX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion TAS 9705830
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with GPX4: view

Pathways & Interactions for GPX4 Gene

genes like me logo Genes that share pathways with GPX4: view

Gene Ontology (GO) - Biological Process for GPX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS 8039723
GO:0006979 response to oxidative stress IEA --
GO:0007275 multicellular organism development IEA --
GO:0019372 lipoxygenase pathway TAS --
GO:0055114 oxidation-reduction process TAS 9705830
genes like me logo Genes that share ontologies with GPX4: view

No data available for SIGNOR curated interactions for GPX4 Gene

Drugs & Compounds for GPX4 Gene

(17) Drugs for GPX4 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutathione Approved Nutra Target, cofactor 0
Water Approved Pharma 0
Selenocysteine Experimental Pharma 0
selenium Pharma 171
Hydrogen peroxide Pharma 48

(43) Additional Compounds for GPX4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
15(S)-HETE
  • (15S)-15-Hydroxy-5,8,11-cis-13-trans-eicosatetraenoate
  • (15S)-15-Hydroxy-5,8,11-cis-13-trans-eicosatetraenoic acid
  • (15S)-15-Hydroxy-5,8,11-cis-13-trans-eicosic acid
  • (15S)-15-Hydroxy-5,8,11-cis-13-trans-icosatetraenoate
  • (15S)-15-Hydroxy-5,8,11-cis-13-trans-icosatetraenoic acid
54845-95-3
15(S)-HPETE
  • (5Z,8Z,11Z,13E)-(15S)-15-Hydroperoxyicosa-5,8,11,13-tetraenoate
  • (5Z,8Z,11Z,13E)-(15S)-15-Hydroperoxyicosa-5,8,11,13-tetraenoic acid
  • 15-Hydroperoxyeicosatetraenoate
  • 15-Hydroperoxyeicosatetraenoic acid
  • 15-Hydroperoxyicosatetraenoate
70981-96-3
5(S)-Hydroperoxyeicosatetraenoic acid
  • (6E,8Z,11Z,14Z)-(5S)-5-hydroperoxyeicosa-6,8,11,14-tetraenoate
  • (6E,8Z,11Z,14Z)-(5S)-5-hydroperoxyeicosa-6,8,11,14-tetraenoic acid
  • 5(S)-Hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoate
  • 5(S)-Hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid
  • 5-Hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoate
71774-08-8
5-HETE
  • 5(S)-HETE
  • 5(S)-Hydroxy-6-trans-8,11,14-cis-eicosatetraenoate
  • 5(S)-Hydroxy-6-trans-8,11,14-cis-eicosatetraenoic acid
  • 5(S)-Hydroxyeicosatetraenoate
  • 5(S)-Hydroxyeicosatetraenoic acid
70608-72-9
5-Hpete
  • (5S,6E,8Z,11Z,14Z)-5-hydroperoxyicosa-6,8,11,14-tetraenoate
  • (5S,6E,8Z,11Z,14Z)-5-hydroperoxyicosa-6,8,11,14-tetraenoic acid
  • (6E,8Z,11Z,14Z)-(5S)-5-Hydroperoxyeicosa-6,8,11,14-tetraenoate
  • (6E,8Z,11Z,14Z)-(5S)-5-Hydroperoxyeicosa-6,8,11,14-tetraenoic acid
  • 5(S)-HPETE
74581-83-2
genes like me logo Genes that share compounds with GPX4: view

Transcripts for GPX4 Gene

Unigene Clusters for GPX4 Gene

Glutathione peroxidase 4:
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPX4 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - - -
SP5: -
SP6:
SP7:

Relevant External Links for GPX4 Gene

GeneLoc Exon Structure for
GPX4
ECgene alternative splicing isoforms for
GPX4

Expression for GPX4 Gene

mRNA expression in normal human tissues for GPX4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GPX4 Gene

This gene is overexpressed in Testis (x4.3).

Protein differential expression in normal tissues from HIPED for GPX4 Gene

This gene is overexpressed in Brain (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GPX4 Gene



Protein tissue co-expression partners for GPX4 Gene

NURSA nuclear receptor signaling pathways regulating expression of GPX4 Gene:

GPX4

SOURCE GeneReport for Unigene cluster for GPX4 Gene:

Hs.433951

mRNA Expression by UniProt/SwissProt for GPX4 Gene:

P36969-GPX4_HUMAN
Tissue specificity: Present primarily in testis.
genes like me logo Genes that share expression patterns with GPX4: view

Primer Products

Orthologs for GPX4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GPX4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GPX4 34
  • 89.17 (n)
  • 92.39 (a)
GPX4 35
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gpx4 34
  • 83.42 (n)
  • 88.11 (a)
Gpx4 16
Gpx4 35
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gpx4 34
  • 86.13 (n)
  • 91.37 (a)
oppossum
(Monodelphis domestica)
Mammalia GPX4 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPX4 35
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GPX4 35
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPX4 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpx4 34
  • 64.94 (n)
  • 67.36 (a)
Str.6328 34
zebrafish
(Danio rerio)
Actinopterygii gpx4b 34
  • 68.78 (n)
  • 69.84 (a)
gpx4a 35
  • 71 (a)
OneToMany
gpx4b 35
  • 77 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.584 34
fruit fly
(Drosophila melanogaster)
Insecta CG12013 36
  • 44 (a)
CG15116 35
  • 34 (a)
OneToMany
PHGPx 35
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F26E4.12 36
  • 48 (a)
R05H10.5 36
  • 48 (a)
T09A12.2 36
  • 44 (a)
T09A12.2 34
  • 50.1 (n)
  • 45.4 (a)
gpx-1 35
  • 44 (a)
OneToMany
gpx-2 35
  • 41 (a)
OneToMany
gpx-6 35
  • 40 (a)
OneToMany
gpx-7 35
  • 37 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPX2 34
  • 50.54 (n)
  • 43.14 (a)
GPX1 35
  • 36 (a)
ManyToMany
GPX2 35
  • 41 (a)
ManyToMany
HYR1 35
  • 40 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons GPX7 34
  • 54.47 (n)
  • 51.63 (a)
soybean
(Glycine max)
eudicotyledons Gma.2160 34
rice
(Oryza sativa)
Liliopsida Os.4833 34
wheat
(Triticum aestivum)
Liliopsida Ta.5358 34
corn
(Zea mays)
Liliopsida Zm.6203 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
ManyToMany
Species where no ortholog for GPX4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for GPX4 Gene

ENSEMBL:
Gene Tree for GPX4 (if available)
TreeFam:
Gene Tree for GPX4 (if available)

Paralogs for GPX4 Gene

Paralogs for GPX4 Gene

(3) SIMAP similar genes for GPX4 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with GPX4: view

Variants for GPX4 Gene

Sequence variations from dbSNP and Humsavar for GPX4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs8178967 - 1,104,048(+) GATGA(A/G)CCTCG upstream-variant-2KB, reference, missense
rs76201145 - 1,105,691(+) AGTTC(A/G)CCGCG reference, missense
rs3177111 -- 1,106,780(+) ATTAG(A/C)CTGCT utr-variant-3-prime
rs3203740 -- 1,106,742(+) CCCCC(A/C)CCCCT utr-variant-3-prime
rs3746165 -- 1,102,212(-) TGTTG(C/T)CCTCA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GPX4 Gene

Variant ID Type Subtype PubMed ID
dgv135n111 CNV deletion 26073780
dgv136n111 CNV deletion 26073780
esv2758743 CNV gain+loss 17122850
nsv1058677 CNV loss 25217958
nsv1126498 CNV deletion 24896259
nsv1160555 CNV deletion 26073780
nsv469845 CNV loss 16826518
nsv470102 CNV loss 18288195
nsv470103 CNV gain 18288195
nsv578215 CNV gain 21841781
nsv828366 CNV loss 20364138
nsv828367 CNV gain 20364138
nsv833704 CNV gain 17160897
nsv953938 CNV deletion 24416366
nsv953939 CNV deletion 24416366
nsv9662 CNV gain 18304495

Variation tolerance for GPX4 Gene

Residual Variation Intolerance Score: 70.2% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GPX4 Gene

Human Gene Mutation Database (HGMD)
GPX4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPX4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPX4 Gene

Disorders for GPX4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GPX4 Gene - From: ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spondylometaphyseal dysplasia, sedaghatian type
  • spondylometaphyseal dysplasia sedaghatian type
neurotic disorder
  • depressive neurosis
miller-dieker lissencephaly syndrome
  • mds
brachyolmia
  • brachyrachia
- elite association - COSMIC cancer census association via MalaCards
Search GPX4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GPX4_HUMAN
  • Spondylometaphyseal dysplasia, Sedaghatian type (SMDS) [MIM:250220]: A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. {ECO:0000269 PubMed:24706940}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GPX4

Genetic Association Database (GAD)
GPX4
Human Genome Epidemiology (HuGE) Navigator
GPX4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GPX4
genes like me logo Genes that share disorders with GPX4: view

No data available for Genatlas for GPX4 Gene

Publications for GPX4 Gene

  1. Genetic variations of gpx-4 and male infertility in humans. (PMID: 12606444) Maiorino M. … Flohe L. (Biol. Reprod. 2003) 3 4 22 46 65
  2. Genetic variants in selenoprotein genes increase risk of colorectal cancer. (PMID: 20378690) MAcplan C. … Hesketh J.E. (Carcinogenesis 2010) 3 22 46 65
  3. Functional effects of a common single-nucleotide polymorphism (GPX4c718t) in the glutathione peroxidase 4 gene: interaction with sex. (PMID: 18400727) MAcplan C. … Hesketh J.E. (Am. J. Clin. Nutr. 2008) 3 22 46 65
  4. Structural basis for catalytic activity and enzyme polymerization of phospholipid hydroperoxide glutathione peroxidase-4 (GPx4). (PMID: 17630701) Scheerer P. … Kuhn H. (Biochemistry 2007) 3 4 22 65
  5. Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer. (PMID: 17634480) Udler M. … Pharoah P. (J. Clin. Oncol. 2007) 3 22 46 65

Products for GPX4 Gene

Sources for GPX4 Gene

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