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

Gene ID: 2678, updated on 11-Sep-2019

Summary

Official Symbol
GGT1provided by HGNC
Official Full Name
gamma-glutamyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:4250
See related
Ensembl:ENSG00000100031 Ensembl:ENSG00000286070 MIM:612346
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

Genomic context

See GGT1 in Genome Data Viewer
Location:
22q11.23
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (24583750..24629005)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24979629..25024972)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ADORA2A antisense RNA 1 Neighboring gene beta-ureidopropionase 1 Neighboring gene guanylyl cyclase domain containing 1 Neighboring gene small nuclear ribonucleoprotein D3 polypeptide Neighboring gene leucine rich repeat containing 75B Neighboring gene POM121 transmembrane nucleoporin like 10, pseudogene Neighboring gene BCR pseudogene 3 Neighboring gene actin related protein 2 pseudogene Neighboring gene ADP ribosylation factor like GTPase 5A pseudogene 4

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
not available

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC96892, MGC96904, MGC96963

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_008111.1 RefSeqGene

    Range
    5001..50255
    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
    P19440
    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
    P19440
    UniProtKB/TrEMBL
    A0A140VJJ9
    Related
    ENSP00000383231.1, ENST00000400380.5
    Conserved Domains (1) summary
    pfam01019
    Location:56564
    G_glu_transpept; Gamma-glutamyltranspeptidase
  3. NM_013430.2NP_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, BM673976, BU164348, M24903
    Consensus CDS
    CCDS42992.1
    UniProtKB/Swiss-Prot
    P19440
    UniProtKB/TrEMBL
    A0A140VJJ9
    Related
    ENSP00000248923.4, ENST00000248923.9
    Conserved Domains (1) summary
    pfam01019
    Location:56564
    G_glu_transpept; Gamma-glutamyltranspeptidase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    24583750..24629005
    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.
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