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GSR glutathione-disulfide reductase [ Homo sapiens (human) ]

Gene ID: 2936, updated on 5-Jan-2020

Summary

Official Symbol
GSRprovided by HGNC
Official Full Name
glutathione-disulfide reductaseprovided by HGNC
Primary source
HGNC:HGNC:4623
See related
Ensembl:ENSG00000104687 MIM:138300
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
GR; GSRD; HEL-75; HEL-S-122m
Summary
This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]
Expression
Ubiquitous expression in colon (RPKM 26.7), kidney (RPKM 25.9) and 25 other tissues See more
Orthologs

Genomic context

See GSR in Genome Data Viewer
Location:
8p12
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (30678061..30727999, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (30535578..30585486, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RNA binding protein, mRNA processing factor Neighboring gene uncharacterized LOC112268024 Neighboring gene general transcription factor IIE subunit 2 Neighboring gene RNA, U5A small nuclear 3, pseudogene Neighboring gene small integral membrane protein 18 Neighboring gene uncharacterized LOC105379356 Neighboring gene uncharacterized LOC105379355 Neighboring gene UBX domain protein 8 Neighboring gene protein phosphatase 2 catalytic subunit beta

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human glutathione reductase, mitochondria (GSR) at amino acid residues 67-68 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC78522

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADP binding IEA
Inferred from Electronic Annotation
more info
 
electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutathione-disulfide reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cell redox homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
cellular response to oxidative stress IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to oxidative stress TAS
Traceable Author Statement
more info
 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
glutathione metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleobase-containing small molecule interconversion TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
glutathione reductase, mitochondrial
Names
GRase
epididymis luminal protein 75
epididymis secretory sperm binding protein Li 122m
glutathione S-reductase
NP_000628.2
NP_001182031.1
NP_001182032.1
NP_001182033.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_027719.1 RefSeqGene

    Range
    5124..54904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000637.5NP_000628.2  glutathione reductase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_000628.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC103959, BC069244, CA944703
    Consensus CDS
    CCDS34877.1
    UniProtKB/Swiss-Prot
    P00390
    UniProtKB/TrEMBL
    V9HW90
    Related
    ENSP00000221130.5, ENST00000221130.11
    Conserved Domains (3) summary
    TIGR01421
    Location:63522
    gluta_reduc_1; glutathione-disulfide reductase, animal/bacterial
    pfam00070
    Location:233307
    Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase
    pfam02852
    Location:412520
    Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerization domain
  2. NM_001195102.2NP_001182031.1  glutathione reductase, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001182031.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as delta8) lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AB519179, AC103959, BM148117, CA944703, CB988964
    Consensus CDS
    CCDS56531.1
    UniProtKB/Swiss-Prot
    P00390
    Related
    ENSP00000445516.1, ENST00000546342.5
    Conserved Domains (3) summary
    TIGR01421
    Location:63493
    gluta_reduc_1; glutathione-disulfide reductase, animal/bacterial
    pfam00070
    Location:233282
    Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase
    pfam02852
    Location:383491
    Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerization domain
  3. NM_001195103.2NP_001182032.1  glutathione reductase, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001182032.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as delta9) lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (3) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AB519180, AC103959, BM148117, CA944703, CB988964
    Consensus CDS
    CCDS56532.1
    UniProtKB/Swiss-Prot
    P00390
    Related
    ENSP00000444559.1, ENST00000541648.5
    Conserved Domains (3) summary
    TIGR01421
    Location:63469
    gluta_reduc_1; glutathione-disulfide reductase, animal/bacterial
    pfam00070
    Location:233302
    Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase
    pfam02852
    Location:359467
    Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerization domain
  4. NM_001195104.2NP_001182033.1  glutathione reductase, mitochondrial isoform 4

    See identical proteins and their annotated locations for NP_001182033.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4, also known as delta8+9) lacks two consecutive coding exons, as compared to variant 1. The reading frame is not affected and the resulting isoform (4) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AB519181, AC103959, BM148117, CA944703, CB988964
    Consensus CDS
    CCDS56530.1
    UniProtKB/Swiss-Prot
    P00390
    Related
    ENSP00000438845.1, ENST00000537535.5
    Conserved Domains (3) summary
    TIGR01421
    Location:63440
    gluta_reduc_1; glutathione-disulfide reductase, animal/bacterial
    pfam00070
    Location:233286
    Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase
    pfam02852
    Location:330438
    Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerization domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    30678061..30727999 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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