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    GGT6 gamma-glutamyltransferase 6 [ Homo sapiens (human) ]

    Gene ID: 124975, updated on 3-Apr-2024

    Summary

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    Official Symbol
    GGT6provided by HGNC
    Official Full Name
    gamma-glutamyltransferase 6provided by HGNC
    Primary source
    HGNC:HGNC:26891
    See related
    Ensembl:ENSG00000167741 MIM:612341; AllianceGenome:HGNC:26891
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT 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. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]
    Expression
    Biased expression in colon (RPKM 26.8), kidney (RPKM 22.6) and 12 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    17p13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4556140..4560577, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4446823..4450473, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4460222..4463872, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:4392946-4394145 Neighboring gene SPNS2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8041 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4402340-4402975 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4402976-4403610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4405882-4406398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4406399-4406914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4407104-4407604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4407605-4408105 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4408166-4408835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4408836-4409504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11542 Neighboring gene SPNS lysolipid transporter 2, sphingosine-1-phosphate Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4415494-4416140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4417497-4418154 Neighboring gene MYB binding protein 1a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4485577-4486150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4486943-4487562 Neighboring gene thioredoxin pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4487563-4488182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4488803-4489420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4496171-4496742 Neighboring gene smoothelin like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4501973-4502865 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:4502866-4503758 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:4503759-4504651

    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. A Multinational Arab Genome-Wide Association Study Identifies New Genetic Associations for Rheumatoid Arthritis. Saxena R, et al. Arthritis Rheumatol, 2017 May. PMID 28118524
    2. The human gamma-glutamyltransferase gene family. Heisterkamp N, et al. Hum Genet, 2008 May. PMID 18357469
    3. Notch3 interactome analysis identified WWP2 as a negative regulator of Notch3 signaling in ovarian cancer. Jung JG, et al. PLoS Genet, 2014 Oct. PMID 25356737, Free PMC Article
    4. The intracellular NADH level regulates atrophic nonunion pathogenesis through the CtBP2-p300-Runx2 transcriptional complex. Zhang W, et al. Int J Biol Sci, 2018. PMID 30585266, Free PMC Article
    5. 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

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Variants of GGT6 were associated with rheumatoid arthritis in an Arab population.
      Title: A Multinational Arab Genome-Wide Association Study Identifies New Genetic Associations for Rheumatoid Arthritis.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    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

    • FLJ25990, FLJ90165

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glutathione hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables leukotriene C4 gamma-glutamyl transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in glutathione biosynthetic 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 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    glutathione hydrolase 6
    Names
    gamma-glutamyltransferase 6 homolog
    gamma-glutamyltranspeptidase 6
    NP_001116362.1
    NP_001275631.1
    NP_001275632.1
    NP_001275633.1
    NP_699169.2
    XP_024306340.2
    XP_047291290.1
    XP_047291291.1
    XP_047291292.1
    XP_047291293.1
    XP_047291294.1

    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_001122890.3 → NP_001116362.1  glutathione hydrolase 6 isoform a

      See identical proteins and their annotated locations for NP_001116362.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region, compared to variant 3. It encodes isoform a, which is shorter than isoform c.
      Source sequence(s)
      AI284219, AK129501, BC063111, BM720407, DC345075
      Consensus CDS
      CCDS45582.1
      UniProtKB/Swiss-Prot
      B4DUH4, Q6P531, Q8NCM0
      UniProtKB/TrEMBL
      B4DKN3
      Related
      ENSP00000458307.1, ENST00000574154.5
      Conserved Domains (1) summary
      cl19223
      Location:116 → 388
      G_glu_transpept; Gamma-glutamyltranspeptidase

    2. NM_001288702.2 → NP_001275631.1  glutathione hydrolase 6 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AI284219, AK296645, BC063111, BM720407, BP276563, DC345075
      Consensus CDS
      CCDS73942.1
      UniProtKB/TrEMBL
      B4DKN3, J3KPJ0
      Related
      ENSP00000370962.3, ENST00000381550.8
      Conserved Domains (1) summary
      cl19223
      Location:123 → 394
      G_glu_transpept; Gamma-glutamyltranspeptidase

    3. NM_001288703.2 → NP_001275632.1  glutathione hydrolase 6 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region and another alternate splice site in the 3' coding region, the latter resulting in a frameshift and an early stop codon, compared to variant 3. It encodes isoform d, which is shorter and has a distinct C-terminus, compared to isoform c.
      Source sequence(s)
      AI284219, AK129501, AK296645, BC063111, BM720407, DA645854, DC345075, DC345192
      UniProtKB/TrEMBL
      I3L2G6
      Related
      ENSP00000459662.1, ENST00000574584.1
      Conserved Domains (1) summary
      cl19223
      Location:107 → 146
      G_glu_transpept; Gamma-glutamyltranspeptidase

    4. NM_001288704.2 → NP_001275633.1  glutathione hydrolase 6 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon in the 5' coding region and uses an alternate splice site in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 3. It encodes isoform e, which is shorter and has a distinct C-terminus compared to isoform c.
      Source sequence(s)
      AI284219, AK296645, BC063111, BM720407, BP276563, CV571037, DC345075
      UniProtKB/TrEMBL
      I3L2G6

    5. NM_153338.4 → NP_699169.2  glutathione hydrolase 6 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 3. It encodes isoform b, which is shorter than isoform c.
      Source sequence(s)
      AI284219, AK074646, AK296645, BC063111, BM720407, DC345075
      Consensus CDS
      CCDS11047.1
      UniProtKB/TrEMBL
      B4DKN3
      Related
      ENSP00000301395.3, ENST00000301395.7
      Conserved Domains (1) summary
      cl19223
      Location:146 → 356
      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      4556140..4560577 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435338.1 → XP_047291294.1  glutathione hydrolase 6 isoform X6

    2. XM_047435336.1 → XP_047291292.1  glutathione hydrolase 6 isoform X4

      Conserved Domains (1) summary
      cl19223
      Location:146 → 356
      G_glu_transpept; Gamma-glutamyltranspeptidase

    3. XM_047435337.1 → XP_047291293.1  glutathione hydrolase 6 isoform X5

    4. XM_047435335.1 → XP_047291291.1  glutathione hydrolase 6 isoform X3

      UniProtKB/Swiss-Prot
      B4DUH4, Q6P531, Q8NCM0
      Conserved Domains (1) summary
      cl19223
      Location:116 → 388
      G_glu_transpept; Gamma-glutamyltranspeptidase

    5. XM_047435334.1 → XP_047291290.1  glutathione hydrolase 6 isoform X2

      UniProtKB/TrEMBL
      J3KPJ0

    6. XM_024450572.2 → XP_024306340.2  glutathione hydrolase 6 isoform X1

      UniProtKB/TrEMBL
      B4DPG6, E7ETG5
      Related
      ENSP00000461230.1, ENST00000573591.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      4446823..4450473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P531.2 GenPept UniProtKB/Swiss-Prot:Q6P531

    Gene LinkOut

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

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