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

    Gene ID: 2678, updated on 5-May-2024

    Summary

    Official Symbol
    GGT1provided by HGNC
    Official Full Name
    gamma-glutamyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:4250
    See related
    Ensembl:ENSG00000100031 MIM:612346; AllianceGenome:HGNC:4250
    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; GGTD; 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]
    Expression
    Biased expression in kidney (RPKM 54.5), duodenum (RPKM 22.2) and 11 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GGT1 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24583750..24628996)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25045351..25090447)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24979718..25024963)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene guanylyl cyclase domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24957881-24958382 Neighboring gene small nuclear ribonucleoprotein D3 polypeptide Neighboring gene uncharacterized LOC124905091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24980432-24980932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24980933-24981433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24987467-24988460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24988461-24989453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24990503-24991473 Neighboring gene leucine rich repeat containing 75B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24999043-25000008 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:25000009-25000973 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25003664-25004194 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:25008515-25008883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25016763-25017263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25025816-25026364 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25026365-25026914 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25026915-25027462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25027463-25028012 Neighboring gene BCR pseudogene 3 Neighboring gene POM121 transmembrane nucleoporin like 10, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25046823-25047590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25052870-25053379 Neighboring gene ARL5A pseudogene 4 Neighboring gene ACTR2 pseudogene 1

    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
    gamma-Glutamyltransferase deficiency
    MedGen: C0268524 OMIM: 231950 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC96892, MGC96904, MGC96963

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glutathione hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glutathione hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glutathione hydrolase activity TAS
    Traceable Author Statement
    more info
     
    enables leukotriene C4 gamma-glutamyl transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables leukotriene-C(4) hydrolase IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables leukotriene-C(4) hydrolase IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables peptidyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in amino acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cysteine biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glutamate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glutathione biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glutathione catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glutathione catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in leukotriene D4 biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in leukotriene D4 biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in leukotriene metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptide modification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of immune system process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of immune system process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in zymogen activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    glutathione hydrolase 1 proenzyme
    Names
    gamma-glutamyltranspeptidase 1
    leukotriene-C4 hydrolase
    testicular tissue protein Li 73
    NP_001275762.1
    NP_038265.2
    NP_038347.2

    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_008111.2 RefSeqGene

      Range
      24445..50248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001288833.2NP_001275762.1  glutathione hydrolase 1 proenzyme precursor

      See identical proteins and their annotated locations for NP_001275762.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents the longest transcript. Variants 2, 3, and 6 encode the same protein.
      Source sequence(s)
      BC035341, CD625024, HY003521, L20494
      Consensus CDS
      CCDS42992.1
      UniProtKB/Swiss-Prot
      A6NGU5, P19440, Q08247, Q14404, Q8TBS1, Q9UMK1
      UniProtKB/TrEMBL
      A0A140VJJ9
      Related
      ENSP00000383232.1, ENST00000400382.6
      Conserved Domains (1) summary
      pfam01019
      Location:56564
      G_glu_transpept; Gamma-glutamyltranspeptidase
    2. NM_013421.3NP_038265.2  glutathione hydrolase 1 proenzyme 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, CD625024, HY003521, J04131, L20494
      Consensus CDS
      CCDS42992.1
      UniProtKB/Swiss-Prot
      A6NGU5, P19440, Q08247, Q14404, Q8TBS1, Q9UMK1
      UniProtKB/TrEMBL
      A0A140VJJ9
      Related
      ENSP00000383231.1, ENST00000400380.5
      Conserved Domains (1) summary
      pfam01019
      Location:56564
      G_glu_transpept; Gamma-glutamyltranspeptidase
    3. NM_013430.3NP_038347.2  glutathione hydrolase 1 proenzyme 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, BU164348, M24903
      Consensus CDS
      CCDS42992.1
      UniProtKB/Swiss-Prot
      A6NGU5, P19440, Q08247, Q14404, Q8TBS1, Q9UMK1
      UniProtKB/TrEMBL
      A0A140VJJ9
      Conserved Domains (1) summary
      pfam01019
      Location:56564
      G_glu_transpept; Gamma-glutamyltranspeptidase

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      24583750..24628996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      25045351..25090447
      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.