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GSS glutathione synthetase [ Homo sapiens (human) ]

Gene ID: 2937, updated on 5-Aug-2018

Summary

Official Symbol
GSSprovided by HGNC
Official Full Name
glutathione synthetaseprovided by HGNC
Primary source
HGNC:HGNC:4624
See related
Ensembl:ENSG00000100983 MIM:601002; Vega:OTTHUMG00000032315
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
GSHS; HEL-S-64p; HEL-S-88n
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 14.9), colon (RPKM 13.6) and 25 other tissues See more
Orthologs

Genomic context

See GSS in Genome Data Viewer
Location:
20q11.22
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (34928433..34956027, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33516236..33543794, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene gamma-glutamyltransferase 7 Neighboring gene acyl-CoA synthetase short chain family member 2 Neighboring gene myosin heavy chain 7B Neighboring gene uncharacterized LOC107985393 Neighboring gene microRNA 499a Neighboring gene microRNA 499b Neighboring gene transient receptor potential cation channel subfamily C member 4 associated protein Neighboring gene RNA, U6 small nuclear 407, pseudogene

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to
MedGen: C1856399 OMIM: 231900 GeneReviews: Not available
Compare labs
Gluthathione synthetase deficiency
MedGen: C0398746 OMIM: 266130 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Exposure to HIV-1 clade B Tat protein has a greater inhibition of GSS, GPx1, SOD1, and CAT expression compared with exposure to clade C Tat protein in monocyte-derived immature dendritic cells PubMed
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

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC14098

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
glutathione binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutathione binding IDA
Inferred from Direct Assay
more info
PubMed 
glutathione synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutathione synthase activity TAS
Traceable Author Statement
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular amino acid metabolic process TAS
Traceable Author Statement
more info
PubMed 
glutathione biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glutathione biosynthetic process TAS
Traceable Author Statement
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
response to oxidative stress TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
glutathione synthetase
Names
GSH synthetase
GSH-S
glutathione synthase
NP_000169.1
NP_001309423.1
NP_001309424.1

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_008848.2 RefSeqGene

    Range
    5222..32596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1168

mRNA and Protein(s)

  1. NM_000178.4NP_000169.1  glutathione synthetase

    See identical proteins and their annotated locations for NP_000169.1

    Status: REVIEWED

    Source sequence(s)
    AL133324, AU076581, BC007927
    Consensus CDS
    CCDS13245.1
    UniProtKB/Swiss-Prot
    P48637
    UniProtKB/TrEMBL
    V9HWJ1
    Related
    ENSP00000216951.2, OTTHUMP00000030711, ENST00000216951.7
    Conserved Domains (1) summary
    cd00228
    Location:6474
    eu-GS; Eukaryotic Glutathione Synthetase (eu-GS); catalyses the production of glutathione from gamma-glutamylcysteine and glycine in an ATP-dependent manner. Belongs to the ATP-grasp superfamily.
  2. NM_001322494.1NP_001309423.1  glutathione synthetase

    Status: REVIEWED

    Source sequence(s)
    BC007927, DC328543
    Consensus CDS
    CCDS13245.1
    UniProtKB/Swiss-Prot
    P48637
    UniProtKB/TrEMBL
    V9HWJ1
    Related
    ENSP00000493903.1, ENST00000643188.1
    Conserved Domains (1) summary
    cd00228
    Location:6474
    eu-GS; Eukaryotic Glutathione Synthetase (eu-GS); catalyses the production of glutathione from gamma-glutamylcysteine and glycine in an ATP-dependent manner. Belongs to the ATP-grasp superfamily.
  3. NM_001322495.1NP_001309424.1  glutathione synthetase

    Status: REVIEWED

    Source sequence(s)
    AL133324, BC007927
    Consensus CDS
    CCDS13245.1
    UniProtKB/Swiss-Prot
    P48637
    UniProtKB/TrEMBL
    V9HWJ1
    Related
    ENSP00000495750.1, ENST00000644793.1
    Conserved Domains (1) summary
    cd00228
    Location:6474
    eu-GS; Eukaryotic Glutathione Synthetase (eu-GS); catalyses the production of glutathione from gamma-glutamylcysteine and glycine in an ATP-dependent manner. Belongs to the ATP-grasp superfamily.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    34928433..34956027 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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