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    GSS glutathione synthetase [ Homo sapiens (human) ]

    Gene ID: 2937, updated on 17-Jun-2024

    Summary

    Official Symbol
    GSSprovided by HGNC
    Official Full Name
    glutathione synthetaseprovided by HGNC
    Primary source
    HGNC:HGNC:4624
    See related
    Ensembl:ENSG00000100983 MIM:601002; AllianceGenome:HGNC:4624
    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
    NEW
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    Genomic context

    See GSS in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (34928432..34956027, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36649086..36676682, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33516235..33543830, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33450836-33451387 Neighboring gene gamma-glutamyltransferase 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12851 Neighboring gene acyl-CoA synthetase short chain family member 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:33508643-33509842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17771 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:33554901-33555058 Neighboring gene myosin heavy chain 7B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33568001-33568552 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33571861-33572412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33573515-33574066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33574067-33574618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33586565-33587064 Neighboring gene microRNA 499a Neighboring gene microRNA 499b Neighboring gene MPRA-validated peak4198 silencer 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Glutathione synthetase deficiency with 5-oxoprolinuria
    MedGen: C0398746 OMIM: 266130 GeneReviews: Not available
    Compare labs
    Glutathione synthetase deficiency without 5-oxoprolinuria
    MedGen: C1856399 OMIM: 231900 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.
    EBI GWAS 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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC14098

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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
      B2R697, B6F210, E1P5P9, P48637, Q4TTD9
      UniProtKB/TrEMBL
      A0A2R8Y430, V9HWJ1
      Related
      ENSP00000498303.1, ENST00000651619.1
      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.
    2. NM_001322494.1NP_001309423.1  glutathione synthetase

      Status: REVIEWED

      Source sequence(s)
      BC007927, DC328543
      Consensus CDS
      CCDS13245.1
      UniProtKB/Swiss-Prot
      B2R697, B6F210, E1P5P9, P48637, Q4TTD9
      UniProtKB/TrEMBL
      A0A2R8Y430, 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
      B2R697, B6F210, E1P5P9, P48637, Q4TTD9
      UniProtKB/TrEMBL
      A0A2R8Y430, 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      34928432..34956027 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      36649086..36676682 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)