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    GSTA1 glutathione S-transferase alpha 1 [ Homo sapiens (human) ]

    Gene ID: 2938, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GSTA1provided by HGNC
    Official Full Name
    glutathione S-transferase alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:4626
    See related
    Ensembl:ENSG00000243955 MIM:138359; AllianceGenome:HGNC:4626
    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
    GST2; GTH1; GSTA1-1; GST-epsilon
    Summary
    This gene encodes a member of a family of enzymes that function to add glutathione to target electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins, and products of oxidative stress. This action is an important step in detoxification of these compounds. This subfamily of enzymes has a particular role in protecting cells from reactive oxygen species and the products of peroxidation. Polymorphisms in this gene influence the ability of individuals to metabolize different drugs. This gene is located in a cluster of similar genes and pseudogenes on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in liver (RPKM 342.4), kidney (RPKM 288.3) and 6 other tissues See more
    Orthologs
    all
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    Genomic context

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    See GSTA1 in Genome Data Viewer
    Location:
    6p12.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (52791371..52803816, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (52630148..52642586, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (52656169..52668614, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene glutathione S-transferase alpha 2 Neighboring gene glutathione S-transferase alpha 12, pseudogene Neighboring gene glutathione S-transferase alpha 6, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24690 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92146 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92147 Neighboring gene glutathione S-transferase alpha 5 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92148 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92149

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Kinetic characterization of native and cysteine 112-modified glutathione S-transferase A1-1: reassessment of nonsubstrate ligand binding. Lyon RP, et al. Biochemistry, 2002 Sep 10. PMID 12206662
    2. Glutathione induces helical formation in the carboxy terminus of human glutathione transferase A1-1. Zhan Y, et al. Biochemistry, 2004 Jun 15. PMID 15182170
    3. Analysis of human glutathione S-transferase alpha 1 (hGSTA1) gene promoter polymorphism using denaturing high performance liquid chromatography (DHPLC). Koumaravelou K, et al. Clin Chim Acta, 2011 Jul 15. PMID 21530499
    4. Residue 219 impacts on the dynamics of the C-terminal region in glutathione transferase A1-1: implications for stability and catalytic and ligandin functions. Mosebi S, et al. Biochemistry, 2003 Dec 30. PMID 14690442
    5. Enzymatic detoxication, conformational selection, and the role of molten globule active sites. Honaker MT, et al. J Biol Chem, 2013 Jun 21. PMID 23649628, Free PMC Article

    See all (221) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of Glutathione Transferase M1, T1, P1 and A1 Gene Polymorphism and Susceptibility to IgA Vasculitis.
      Title: Association of Glutathione Transferase M1, T1, P1 and A1 Gene Polymorphism and Susceptibility to IgA Vasculitis.
    2. Genomic investigation on genes related to mercury metabolism in Amazonian indigenous populations.
      Title: Genomic investigation on genes related to mercury metabolism in Amazonian indigenous populations.
    3. Influence of Glutathione-S-Transferase A1*B Allele on the Metabolism of the Aromatase Inhibitor, Exemestane, in Human Liver Cytosols and in Patients Treated With Exemestane.
      Title: Influence of Glutathione-S-Transferase A1*B Allele on the Metabolism of the Aromatase Inhibitor, Exemestane, in Human Liver Cytosols and in Patients Treated With Exemestane.
    4. The analysis of GSTA1 promoter genetic and functional diversity of human populations.
      Title: The analysis of GSTA1 promoter genetic and functional diversity of human populations.
    5. Comparison of the tissue expressions of glutathione S transferase isoenzymes among patients with morphea and healthy controls: A preliminary study.
      Title: Comparison of the tissue expressions of glutathione S transferase isoenzymes among patients with morphea and healthy controls: A preliminary study.
    6. The Interaction of Human Glutathione Transferase GSTA1-1 with Reactive Dyes.
      Title: The Interaction of Human Glutathione Transferase GSTA1-1 with Reactive Dyes.
    7. Population pharmacokinetic analysis of intravenous busulfan: GSTA1 genotype is not a predictive factor of initial dose in Chinese adult patients undergoing hematopoietic stem cell transplantation.
      Title: Population pharmacokinetic analysis of intravenous busulfan: GSTA1 genotype is not a predictive factor of initial dose in Chinese adult patients undergoing hematopoietic stem cell transplantation.
    8. GSTA1, GSTM1, and GSTT1 polymorphisms in patients undergoing hematopoietic stem cell transplantation may have affected busulfan pharmacokinetics, but these effects were obscured by other factors, such as underlying disease, systemic conditions, treatment history, and race.
      Title: Influence of GST polymorphisms on busulfan pharmacokinetics in Japanese children.
    9. Genotypes with lower or null activity of the GSTA1, GSTM1 or GSTT1 did not contribute independently to psoriasis susceptibility in our patients. However, we observed significant associations of genotype combinations with the risk of psoriasis development.
      Title: Combinations of common polymorphisms within GSTA1 and GSTT1 as a risk factor for psoriasis in a central European population: a case-control study.
    10. For glutathione S-transferase alpha 1(GSTA1) and glutathione S-transferase mu 1(GSTM1) polymorphisms, an association was observed with dietary fiber intake
      Title: Association of Glutathione S-Transferase Polymorphisms with Dietary Composition but Not Anthropometry in Obese as Well as Nonobese Individuals.
    Submit: New GeneRIF Correction See all GeneRIFs (134)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC131939

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables fatty acid binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables glutathione peroxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glutathione transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glutathione transferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glutathione transferase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables steroid delta-isomerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular oxidant detoxification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epithelial cell differentiation IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in glutathione derivative biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glutathione metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within glutathione metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glutathione metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in linoleic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in prostaglandin metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in xenobiotic metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    glutathione S-transferase A1
    Names
    13-hydroperoxyoctadecadienoate peroxidase
    GST HA subunit 1
    GST class-alpha member 1
    S-(hydroxyalkyl)glutathione lyase A1
    androst-5-ene-3,17-dione isomerase
    glutathione S-alkyltransferase A1
    glutathione S-aryltransferase A1
    glutathione S-transferase 2
    glutathione S-transferase Ha subunit 1
    testicular tissue protein Li 80
    NP_001305988.1
    NP_665683.1
    XP_005249091.1
    XP_054211231.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001319059.2 → NP_001305988.1  glutathione S-transferase A1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AL590363
      Conserved Domains (1) summary
      cd03208
      Location:1 → 127
      GST_C_Alpha; C-terminal, alpha helical domain of Class Alpha Glutathione S-transferases

    2. NM_145740.5 → NP_665683.1  glutathione S-transferase A1 isoform 1

      See identical proteins and their annotated locations for NP_665683.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encode the longer isoform (1).
      Source sequence(s)
      AL590363, BC053578, BM973137, DC339498
      Consensus CDS
      CCDS4945.1
      UniProtKB/Swiss-Prot
      P08263, Q14750, Q5GHF8, Q5SZC1
      UniProtKB/TrEMBL
      A0A140VJK4, A8K987, B2R920
      Related
      ENSP00000335620.5, ENST00000334575.6
      Conserved Domains (2) summary
      cd03208
      Location:86 → 220
      GST_C_Alpha; C-terminal, alpha helical domain of Class Alpha Glutathione S-transferases
      cd03077
      Location:4 → 82
      GST_N_Alpha; GST_N family, Class Alpha subfamily; GSTs are cytosolic dimeric proteins involved in cellular detoxification by catalyzing the conjugation of glutathione (GSH) with a wide range of endogenous and xenobiotic alkylating agents, including carcinogens, ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      52791371..52803816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249034.5 → XP_005249091.1  glutathione S-transferase A1 isoform X1

      See identical proteins and their annotated locations for XP_005249091.1

      UniProtKB/TrEMBL
      A8K987, B2R920, B7Z1F9
      Conserved Domains (2) summary
      cd03077
      Location:4 → 82
      GST_N_Alpha; GST_N family, Class Alpha subfamily; GSTs are cytosolic dimeric proteins involved in cellular detoxification by catalyzing the conjugation of glutathione (GSH) with a wide range of endogenous and xenobiotic alkylating agents, including carcinogens, ...
      cl02776
      Location:86 → 182
      GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      52630148..52642586 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355256.1 → XP_054211231.1  glutathione S-transferase A1 isoform X1

      UniProtKB/TrEMBL
      B7Z1F9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08263.3 GenPept UniProtKB/Swiss-Prot:P08263

    Gene LinkOut

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