Seroatlas · Human Serome Atlas

GSS

Glutathione synthetase

Also known as: GSHB_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P48637
Gene
GSS
Ensembl
ENSG00000100983
Chromosome
20
Canonical length
474 aa
Protein class
Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm
Quaternary structure
Homodimer

OverviewNCBI Gene

Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

474 residues, UniProt reviewed canonical sequence.

>P48637|GSS
     1  MATNWGSLLQ DKQQLEELAR QAVDRALAEG VLLRTSQEPT SSEVVSYAPF TLFPSLVPSA
    61  LLEQAYAVQM DFNLLVDAVS QNAAFLEQTL SSTIKQDDFT ARLFDIHKQV LKEGIAQTVF
   121  LGLNRSDYMF QRSADGSPAL KQIEINTISA SFGGLASRTP AVHRHVLSVL SKTKEAGKIL
   181  SNNPSKGLAL GIAKAWELYG SPNALVLLIA QEKERNIFDQ RAIENELLAR NIHVIRRTFE
   241  DISEKGSLDQ DRRLFVDGQE IAVVYFRDGY MPRQYSLQNW EARLLLERSH AAKCPDIATQ
   301  LAGTKKVQQE LSRPGMLEML LPGQPEAVAR LRATFAGLYS LDVGEEGDQA IAEALAAPSR
   361  FVLKPQREGG GNNLYGEEMV QALKQLKDSE ERASYILMEK IEPEPFENCL LRPGSPARVV
   421  QCISELGIFG VYVRQEKTLV MNKHVGHLLR TKAIEHADGG VAAGVAVLDN PYPV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GSS 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)
0.22
Highest tissue expression
64 nTPM

Expression across tissuesHPA

Tissue

  • epididymis: 64 nTPM
  • adrenal gland: 41 nTPM
  • kidney: 40 nTPM
  • liver: 39 nTPM
  • colon: 39 nTPM
  • esophagus: 38 nTPM

Single-cell type

  • late spermatids: 321 nCPM
  • breast lactating cells: 152 nCPM
  • epididymal principal cells: 117 nCPM
  • cytotrophoblasts: 104 nCPM
  • esophageal basal cells: 102 nCPM
  • esophageal suprabasal cells: 97 nCPM

Immune cell

  • myeloid DC: 44 nTPM
  • intermediate monocyte: 39 nTPM
  • non-classical monocyte: 37 nTPM
  • classical monocyte: 36 nTPM
  • T-reg: 33 nTPM
  • memory CD8 T-cell: 31 nTPM

Brain region

  • thalamus: 29 nTPM
  • pons: 28 nTPM
  • cerebral cortex: 27 nTPM
  • hypothalamus: 27 nTPM
  • midbrain: 27 nTPM
  • white matter: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GSS.

Disease | AllUniProt

Conditions GSS is implicated in, by any mechanism.

  • Glutathione synthetase deficiency (GSSD) MIM:266130
  • Anemia, congenital, non-spherocytic hemolytic, 6 (CNSHA6) MIM:231900

Disease | GeneticClinVar

55 pathogenic / likely-pathogenic of 484 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Glutathione synthetase deficiency with 5-oxoprolinuria
  • Glutathione synthetase deficiency without 5-oxoprolinuria
  • Inherited glutathione synthetase deficiency
  • Inborn genetic diseases
  • GSS-related disorder

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)
0.79
gnomAD pLI
0
gnomAD missense Z
0.77
DepMap mean gene effect
0.11
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% 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

  • Pre-ATP-grasp domain superfamily
  • Glutathione synthase, substrate-binding domain
  • Glutathione synthase
  • Glutathione synthase, alpha-helical
  • Glutathione synthase, N-terminal, eukaryotic
  • Glutathione synthase, C-terminal, eukaryotic
  • Glutathione synthase, substrate-binding domain superfamily
  • Eukaryotic glutathione synthase
  • Eukaryotic glutathione synthase, ATP binding domain

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

GSS 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 GSS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GSS. 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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