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    GGT1 gamma-glutamyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 2678, updated on 5-Jul-2015
    Official Symbol
    GGT1provided by HGNC
    Official Full Name
    gamma-glutamyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:4250
    See related
    Ensembl:ENSG00000100031; HPRD:01980; MIM:612346; Vega:OTTHUMG00000030859
    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
    GGT; GTG; CD224; GGT 1; D22S672; D22S732
    Summary
    The enzyme encoded by this gene is a type I gamma-glutamyltransferase that catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein. It is expressed in tissues involved in absorption and secretion and may contribute to the etiology of diabetes and other metabolic disorders. Multiple alternatively spliced variants have been identified. There are a number of related genes present on chromosomes 20 and 22, and putative pseudogenes for this gene on chromosomes 2, 13, and 22. [provided by RefSeq, Jan 2014]
    Orthologs
    See GGT1 in Epigenomics, MapViewer
    Location:
    22q11.23
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (24583750..24629005)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24979629..25024972)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene guanylyl cyclase domain containing 1 Neighboring gene small nuclear ribonucleoprotein D3 polypeptide 18kDa Neighboring gene uncharacterized LOC105372961 Neighboring gene leucine rich repeat containing 75B Neighboring gene breakpoint cluster region pseudogene 3 Neighboring gene POM121 transmembrane nucleoporin-like 10, pseudogene Neighboring gene ARP2 actin-related protein 2 homolog (yeast) pseudogene Neighboring gene ADP-ribosylation factor-like 5A pseudogene 4

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    NHGRI GWA Catalog
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    NHGRI GWA Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    NHGRI GWA Catalog
    Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC96892, MGC96904, MGC96963

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    gamma-glutamyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    gamma-glutamyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    glutathione hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    arachidonic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    cellular amino acid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cysteine biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glutamate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutathione biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glutathione biosynthetic process TAS
    Traceable Author Statement
    more info
     
    glutathione catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutathione derivative biosynthetic process TAS
    Traceable Author Statement
    more info
     
    glutathione metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    leukotriene biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    leukotriene metabolic process TAS
    Traceable Author Statement
    more info
     
    regulation of immune system process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
     
    zymogen activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    anchored component of external side of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    gamma-glutamyltranspeptidase 1
    Names
    glutathione hydrolase 1
    leukotriene-C4 hydrolase
    NP_001275762.1
    NP_038265.2
    NP_038347.2

    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_008111.1 RefSeqGene

      Range
      5001..50255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001288833.1NP_001275762.1  gamma-glutamyltranspeptidase 1 precursor

      See identical proteins and their annotated locations for NP_001275762.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) represents the longest transcript. Variants 2, 3, and 6 encode the same protein.
      Source sequence(s)
      BC035341, BM673976, CD625024, HY003521, L20494
      Consensus CDS
      CCDS42992.1
      UniProtKB/Swiss-Prot
      P19440
      Related
      ENSP00000383232, OTTHUMP00000159078, ENST00000400382, OTTHUMT00000250797
      Conserved Domains (1) summary
      pfam01019
      Location:55564
      G_glu_transpept; Gamma-glutamyltranspeptidase
    2. NM_013421.2NP_038265.2  gamma-glutamyltranspeptidase 1 precursor

      See identical proteins and their annotated locations for NP_038265.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 6. Variants 2, 3, and 6 encode the same protein.
      Source sequence(s)
      BC025927, BM673976, CD625024, HY003521, J04131, L20494
      Consensus CDS
      CCDS42992.1
      UniProtKB/Swiss-Prot
      P19440
      Related
      ENSP00000383231, OTTHUMP00000028921, ENST00000400380, OTTHUMT00000075747
      Conserved Domains (1) summary
      pfam01019
      Location:55564
      G_glu_transpept; Gamma-glutamyltranspeptidase
    3. NM_013430.2NP_038347.2  gamma-glutamyltranspeptidase 1 precursor

      See identical proteins and their annotated locations for NP_038347.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 6. Variants 2, 3, and 6 encode the same protein.
      Source sequence(s)
      BC025927, BM673976, BU164348, M24903
      Consensus CDS
      CCDS42992.1
      UniProtKB/Swiss-Prot
      P19440
      Related
      ENSP00000248923, OTTHUMP00000197960, ENST00000248923, OTTHUMT00000319110
      Conserved Domains (1) summary
      pfam01019
      Location:55564
      G_glu_transpept; Gamma-glutamyltranspeptidase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

      Range
      24583750..24629005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      24938527..24983991
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001032364.2: Suppressed sequence

      Description
      NM_001032364.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    2. NM_001032365.2: Suppressed sequence

      Description
      NM_001032365.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    3. NM_005265.3: Suppressed sequence

      Description
      NM_005265.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.