Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

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

Gene ID: 2678, updated on 16-Apr-2014
Official Symbol
GGT1provided by HGNC
Official Full Name
gamma-glutamyltransferase 1provided by HGNC
Primary source
HGNC:4250
See related
Ensembl:ENSG00000100031; HPRD:01980; MIM:612346; Vega:OTTHUMG00000030859
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; 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]
Location :
22q11.23
Sequence :
Chromosome: 22; NC_000022.11 (24583750..24629005)
See GGT1 in Epigenomics, MapViewer

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ADORA2A antisense RNA 1 Neighboring gene ureidopropionase, beta Neighboring gene guanylyl cyclase domain containing 1 Neighboring gene small nuclear ribonucleoprotein D3 polypeptide 18kDa Neighboring gene leucine rich repeat containing 75B Neighboring gene POM121 transmembrane nucleoporin-like 10, pseudogene Neighboring gene breakpoint cluster region pseudogene 3 Neighboring gene ARP2 actin-related protein 2 homolog (yeast) pseudogene Neighboring gene ADP-ribosylation factor-like 5A pseudogene 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
NHGRI GWA Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gamma-glutamyltransferase activity IDA
Inferred from Direct Assay
more info
 
gamma-glutamyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
glutathione hydrolase activity IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
arachidonic acid metabolic process TAS
Traceable Author Statement
more info
 
cellular amino acid metabolic process TAS
Traceable Author Statement
more info
PubMed 
cysteine biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
glutamate metabolic process IDA
Inferred from Direct Assay
more info
 
glutathione biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
glutathione biosynthetic process TAS
Traceable Author Statement
more info
 
glutathione catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glutathione derivative biosynthetic process TAS
Traceable Author Statement
more info
 
glutathione metabolic process TAS
Traceable Author Statement
more info
PubMed 
leukotriene biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
leukotriene metabolic process TAS
Traceable Author Statement
more info
 
regulation of immune system process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
zymogen activation IDA
Inferred from Direct Assay
more info
 
Component Evidence Code Pubs
anchored component of external side of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
gamma-glutamyltranspeptidase 1
Names
gamma-glutamyltranspeptidase 1
glutathione hydrolase 1
leukotriene-C4 hydrolase
NP_001275762.1
NP_038265.2
NP_038347.2

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_001288833.1NP_001275762.1  gamma-glutamyltranspeptidase 1 precursor

    See proteins identical to NP_001275762.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) represents the longest transcript. Variants 2, 3, and 6 encode the same protein.
    Source sequence(s)
    BC035341, BM673976, CD625024, HY003521, L20494
    UniProtKB/Swiss-Prot
    P19440
    Conserved Domains (1) summary
    pfam01019
    Location:55564
    Blast Score: 1683
    G_glu_transpept; Gamma-glutamyltranspeptidase
  2. NM_013421.2NP_038265.2  gamma-glutamyltranspeptidase 1 precursor

    See proteins identical to 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, BM673976, CD625024, HY003521, J04131, L20494
    UniProtKB/Swiss-Prot
    P19440
    Conserved Domains (1) summary
    pfam01019
    Location:55564
    Blast Score: 1683
    G_glu_transpept; Gamma-glutamyltranspeptidase
  3. NM_013430.2NP_038347.2  gamma-glutamyltranspeptidase 1 precursor

    See proteins identical to 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
    Related
    ENSP00000248923, OTTHUMP00000197960, ENST00000248923, OTTHUMT00000319110
    Conserved Domains (1) summary
    pfam01019
    Location:55564
    Blast Score: 1683
    G_glu_transpept; Gamma-glutamyltranspeptidase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38 Primary Assembly

    Range
    24583750..24629005
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000154.1 Alternate HuRef

    Range
    7929404..7974708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    24938527..24983991
    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.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...