Seroatlas · Human Serome Atlas

GSR

Glutathione reductase, mitochondrial

Also known as: GSHR_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P00390
Gene
GSR
Ensembl
ENSG00000104687
Chromosome
8
Canonical length
522 aa
Protein class
Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location
Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

522 residues, UniProt reviewed canonical sequence.

>P00390|GSR
     1  MALLPRALSA GAGPSWRRAA RAFRGFLLLL PEPAALTRAL SRAMACRQEP QPQGPPPAAG
    61  AVASYDYLVI GGGSGGLASA RRAAELGARA AVVESHKLGG TCVNVGCVPK KVMWNTAVHS
   121  EFMHDHADYG FPSCEGKFNW RVIKEKRDAY VSRLNAIYQN NLTKSHIEII RGHAAFTSDP
   181  KPTIEVSGKK YTAPHILIAT GGMPSTPHES QIPGASLGIT SDGFFQLEEL PGRSVIVGAG
   241  YIAVEMAGIL SALGSKTSLM IRHDKVLRSF DSMISTNCTE ELENAGVEVL KFSQVKEVKK
   301  TLSGLEVSMV TAVPGRLPVM TMIPDVDCLL WAIGRVPNTK DLSLNKLGIQ TDDKGHIIVD
   361  EFQNTNVKGI YAVGDVCGKA LLTPVAIAAG RKLAHRLFEY KEDSKLDYNN IPTVVFSHPP
   421  IGTVGLTEDE AIHKYGIENV KTYSTSFTPM YHAVTKRKTK CVMKMVCANK EEKVVGIHMQ
   481  GLGCDEMLQG FAVAVKMGAT KADFDNTVAI HPTSSEELVT LR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GSR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.3
Highest tissue expression
77 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 77 nTPM
  • duodenum: 51 nTPM
  • small intestine: 48 nTPM
  • rectum: 44 nTPM
  • kidney: 42 nTPM
  • colon: 40 nTPM

Single-cell type

  • neutrophil progenitors: 200 nCPM
  • neutrophils: 151 nCPM
  • monocyte progenitors: 127 nCPM
  • prostatic glandular cells: 123 nCPM
  • ocular epithelial cells: 118 nCPM
  • platelets: 110 nCPM

Immune cell

  • basophil: 32 nTPM
  • eosinophil: 15 nTPM
  • MAIT T-cell: 8.8 nTPM
  • neutrophil: 8.2 nTPM
  • non-classical monocyte: 8 nTPM
  • myeloid DC: 6 nTPM

Brain region

  • choroid plexus: 61 nTPM
  • thalamus: 43 nTPM
  • midbrain: 36 nTPM
  • hippocampal formation: 33 nTPM
  • hypothalamus: 33 nTPM
  • amygdala: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GSR.

Disease | AllUniProt

Conditions GSR is implicated in, by any mechanism.

  • Anemia, congenital, non-spherocytic hemolytic, 10 (CNSHA10) MIM:618660

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 251 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.91
gnomAD pLI
0
gnomAD missense Z
0.51
DepMap mean gene effect
-0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GSR as an antibody target. Whether an autoantibody or antibody against GSR could matter depends on whether native GSR is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GSR is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GSR as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GSR. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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