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

Gene ID: 728226, updated on 3-Apr-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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Location:
22q11.21
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (18516338..18518166, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (19025865..19027668)
105.20220307 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
  • 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glutathione hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
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_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
    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

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Chemical Information
Molecular Biology Databases
Research Materials