GPX5 glutathione peroxidase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GPX5provided by HGNC
Official Full Name: glutathione peroxidase 5provided by HGNC
Primary source: HGNC:HGNC:4557
See related: Ensembl:ENSG00000224586 MIM:603435; AllianceGenome:HGNC:4557
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EGLP; GPx-5; GSHPx-5; HEL-S-75p
Summary: This gene belongs to the glutathione peroxidase family. It is specifically expressed in the epididymis in the mammalian male reproductive tract, and is androgen-regulated. Unlike several other characterized glutathione peroxidases, this enzyme is not a selenoprotein, lacking the selenocysteine residue. Thus, it is selenium-independent, and has been proposed to play a role in protecting the membranes of spermatozoa from the damaging effects of lipid peroxidation and/or preventing premature acrosome reaction. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2016]
Expression: Restricted expression toward testis (RPKM 1.2) See more
Orthologs: mouse all
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Genomic context

Location:: 6p22.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (28525881..28534955)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (28397310..28406348)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (28493658..28502732)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Glutathione pathway genetic polymorphisms and lung cancer survival after platinum-based chemotherapy.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat causes a greater than 50% decrease in intracellular reduced glutathione (GSH), leading to the extracellular appearance of acidic FGF-1, an effect that is partially mediated through modulation of GSH biosynthetic enzymes	PubMed
	tat	Expression of HIV-1 Tat in HeLa cells downregulates cytoplasmic glutathione peroxidase while upregulating phospholipid hydroperoxide glutathione peroxidase, thereby deregulating intracellular oxidant/antioxidant balance and amplifying UV sensitivity	PubMed
Vpr	vpr	Treatment of human primary astrocytes with HIV-1 Vpr upregulates expression of six genes, APOE, CCL5, DGKK, GPX5, NOS2, and PXDNL	PubMed

Go to the HIV-1, Human Interaction Database

General gene information

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Markers

G66704 (e-PCR)
- UniSTS:166930

G66705 (e-PCR)
- UniSTS:166931

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glutathione peroxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glutathione peroxidase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in cellular response to oxidative stress	TAS Traceable Author Statement more info
involved_in lipid metabolic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: epididymal secretory glutathione peroxidase

Names: epididymal androgen-related protein; epididymis secretory sperm binding protein Li 75p; epididymis-specific glutathione peroxidase-like protein

NP_001500.1

EC 1.11.1.9

NP_003987.2

EC 1.11.1.9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_047054.1 RefSeqGene

Range

4870..13944

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001509.3 → NP_001500.1 epididymal secretory glutathione peroxidase isoform 1 precursor

See identical proteins and their annotated locations for NP_001500.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL049543

Consensus CDS

CCDS4652.1

UniProtKB/Swiss-Prot

A1A4Y0, O75715

UniProtKB/TrEMBL

V9HWN8

Related

ENSP00000392398.2, ENST00000412168.7

Conserved Domains (1) summary

cd00340
Location:39 → 211

GSH_Peroxidase; Glutathione (GSH) peroxidase family; tetrameric selenoenzymes that catalyze the reduction of a variety of hydroperoxides including lipid peroxidases, using GSH as a specific electron donor substrate. GSH peroxidase contains one selenocysteine residue per ...
NM_003996.3 → NP_003987.2 epididymal secretory glutathione peroxidase isoform 2 precursor

See identical proteins and their annotated locations for NP_003987.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal coding exon, which results in a frame-shift, compared to variant 1. The encoded isoform (2) is shorter, with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AJ005277, AL049543, BC128159, BX103177, DB336279

Consensus CDS

CCDS4653.1

UniProtKB/Swiss-Prot

O75715

Related

ENSP00000419935.1, ENST00000469384.1

Conserved Domains (1) summary

cl00388
Location:40 → 90

Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

RNA

NR_144470.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate 5' terminal exon and lacks an internal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translation start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL049543, DB024012, FJ460514