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    GGTLC3 gamma-glutamyltransferase light chain family member 3 [ Homo sapiens (human) ]

    Gene ID: 728226, updated on 14-Nov-2024

    Summary

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    Official Symbol
    GGTLC3provided by HGNC
    Official Full Name
    gamma-glutamyltransferase light chain family member 3provided by HGNC
    Primary source
    HGNC:HGNC:33426
    See related
    Ensembl:ENSG00000274252 MIM:612340; AllianceGenome:HGNC:33426
    Gene type
    protein coding
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GGT
    Summary
    Gamma-glutamyltransferase-1 (GGT1; MIM 612346) is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. Autocatalytic cleavage of the GGT1 precursor polypeptide produces a heavy chain and a light chain that associate with each other to form the functional enzyme. Light chain-only GGTs, such as GGTLC3, contain a region corresponding to the GGT1 light chain, but they lack the membrane-anchoring heavy chain region (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]
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    Genomic context

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    See GGTLC3 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (18516338..18518166, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (19025865..19027668)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20366211..20368028, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 230 member A Neighboring gene family with sequence similarity 247 member B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20361787-20362627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20377409-20377989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13450 Neighboring gene transmembrane protein 191B Neighboring gene phosphatidylinositol 4-kinase alpha pseudogene 1

    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 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. Expression of multiple gamma-glutamyltransferase genes in man. Courtay C, et al. Biochem J, 1994 Feb 1. PMID 7906515, Free PMC Article
    2. Cloning and nucleotide sequence of human gamma-glutamyl transpeptidase. Rajpert-De Meyts E, et al. Proc Natl Acad Sci U S A, 1988 Dec. PMID 2904146, Free PMC Article
    3. The human gamma-glutamyltransferase gene family. Heisterkamp N, et al. Hum Genet, 2008 May. PMID 18357469
    4. Inflammation-dependent overexpression of c-Myc enhances CRL4(DCAF4) E3 ligase activity and promotes ubiquitination of ST7 in colitis-associated cancer. Liu H, et al. J Pathol, 2019 Aug. PMID 30945288
    5. In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Principe S, et al. Proteomics, 2013 May. PMID 23533145, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glutathione hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in glutathione catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in leukotriene D4 biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    putative glutathione hydrolase light chain 3
    Names
    gamma-glutamyltransferase light chain 3
    putative gamma-glutamyltransferase light chain 3

    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_001355479.1 → NP_001342408.1  putative glutathione hydrolase light chain 3

      Status: INFERRED

      Source sequence(s)
      AC023490
      Consensus CDS
      CCDS86996.1
      UniProtKB/Swiss-Prot
      A6NEA2, B5MD39
      UniProtKB/TrEMBL
      Q6ISU8
      Related
      ENSP00000477856.1, ENST00000619998.1
      Conserved Domains (1) summary
      cl19223
      Location:1 → 220
      G_glu_transpept; Gamma-glutamyltranspeptidase

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      18516338..18518166 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452264.2 → XP_024308032.1  putative glutathione hydrolase light chain 3 isoform X1

      UniProtKB/TrEMBL
      Q6ISU8
      Conserved Domains (1) summary
      cl19223
      Location:1 → 247
      G_glu_transpept; Gamma-glutamyltranspeptidase

    2. XM_047441480.1 → XP_047297436.1  putative glutathione hydrolase light chain 3 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      19025865..19027668
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_011826.1: Suppressed sequence

      Description
      NG_011826.1: This RefSeq was removed because it is now thought that this locus encodes a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B5MD39.1 GenPept UniProtKB/Swiss-Prot:B5MD39

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials