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

Gene ID: 124975, updated on 14-Nov-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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See GGT6 in Genome Data Viewer
Location:
17p13.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4556140..4560577, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4446823..4450473, complement)
RS_2024_09 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 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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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)

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
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_2024_08

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

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