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

Summary

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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 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, and is present in tissues involved in absorption and secretion. This enzyme is a member of the gamma-glutamyltransferase protein family, of which many members have not yet been fully characterized and some of which may represent pseudogenes. This gene is classified as type I gamma-glutamyltransferase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]

Genomic context

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Location :: 22q11.23

Sequence :: Chromosome: 22; NC_000022.10 (24979718..25024972)

See GGT1 in Epigenomics, MapViewer

Chromosome 22 - NC_000022.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

relationship among lung function, metabolic profile and serum CGT level
Title: Association between serum γ-glutamyltransferase and pulmonary dysfunction.
echocardiographic epicardial adipose tissue (EAT) was significantly higher in patients with coronary artery disease and serum GGT activity correlated with EAT thickness.
Title: Serum γ-glutamyltransferase levels correlate with epicardial adipose tissue thickness in patients with coronary artery disease.
GGT was independently associated with increased arterial stiffness both in men and in women with established coronary artery disease.
Title: Association of serum gamma-glutamyltransferase with arterial stiffness in established coronary artery disease.
Levels of GGT in fatty liver patients may compensate for mild oxidative stress by repressing 8-OHdG levels and preventing progression to NASH; however further oxidative stress leads to increased levels of 8-OHdG and the development of NASH
Title: Levels of the oxidative stress marker γ-glutamyltranspeptidase at different stages of nonalcoholic fatty liver disease.
In a series of patients with normal or mild elevation of gamma-GT, the severity of hepatic steatosis does not entail higher carotid intima-media thickness.
Title: Are hepatic steatosis and carotid intima media thickness associated in obese patients with normal or slightly elevated gamma-glutamyl-transferase?
High serum gamma-glutamyltransferase is associated with endometrial cancer.
Title: Prognostic significance of gamma-glutamyltransferase in patients with endometrial cancer: a multi-centre trial.
serum GGT may represent a link between fatty liver and the development of early atherosclerosis.
Title: Fatty liver index, gamma-glutamyltransferase, and early carotid plaques.
when GGT was higher than 20 U/l, the risk of developing prehypertension increased
Title: Association between γ-glutamyltransferase and prehypertension.
Pathway analysis of significant and suggestive single-nucleotide polymorphism associations showed significant overlap between genes affecting GGT and those affecting common metabolic and inflammatory diseases
Title: Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations.
Serum gamma-glutamyl transferase was associated with intra-erythrocyte magnesium in obese children and adolescents, independently of body mass index and HOMA-IR.
Title: Intra-erythrocyte magnesium is associated with gamma-glutamyl transferase in obese children and adolescents.

Submit: New GeneRIF Correction See all (64)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

A genome-wide association study identifies protein quantitative trait loci (pQTLs).

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.

Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P19440	P19397	CD53	HPRD	PubMed
P19440	Q12791	KCNMA1	HPRD	PubMed
BioGRID:108946	BioGRID:115438	NAMPT	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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Arachidonic acid metabolism, organism-specific biosystem (from KEGG)
Arachidonic acid metabolism, organism-specific biosystem
Arachidonic acid metabolism
Arachidonic acid metabolism, organism-specific biosystem (from REACTOME)
Arachidonic acid metabolism, organism-specific biosystemEicosanoids, oxygenated, 20-carbon fatty acids, are autocrine and paracrine signaling molecules that modulate physiological processes including pain, fever, inflammation, blood clot formation, smooth...
Arachidonic acid metabolism, conserved biosystem (from KEGG)
Arachidonic acid metabolism, conserved biosystem
Arachidonic acid metabolism
Biological oxidations, organism-specific biosystem (from REACTOME)
Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
Cyanoamino acid metabolism, organism-specific biosystem (from KEGG)
Cyanoamino acid metabolism, organism-specific biosystem
Cyanoamino acid metabolism
Cyanoamino acid metabolism, conserved biosystem (from KEGG)
Cyanoamino acid metabolism, conserved biosystem
Cyanoamino acid metabolism
Eicosanoid Synthesis, organism-specific biosystem (from WikiPathways)
Eicosanoid Synthesis, organism-specific biosystemIn biochemistry, eicosanoids are signaling molecules made by oxidation of twenty-carbon essential fatty acids, (EFAs). They exert complex control over many bodily systems, mainly in inflammation or i...
Glutathione conjugation, organism-specific biosystem (from REACTOME)
Glutathione conjugation, organism-specific biosystemGlutathione S-Transferases (GSTs; EC 2.5.1.18) are another major set of phase II conjugation enzymes. They can be found in the cytosol as well as being microsomal membrane-bound. Cytosolic GSTs are e...
Glutathione metabolism, organism-specific biosystem (from KEGG)
Glutathione metabolism, organism-specific biosystem
Glutathione metabolism
Glutathione metabolism, organism-specific biosystem (from WikiPathways)
Glutathione metabolism, organism-specific biosystem
Glutathione metabolism
Glutathione metabolism, conserved biosystem (from KEGG)
Glutathione metabolism, conserved biosystem
Glutathione metabolism
Glutathione synthesis and recycling, organism-specific biosystem (from REACTOME)
Glutathione synthesis and recycling, organism-specific biosystemThe combination of glutamate, cysteine and ATP is required to form glutathione. The steps involved in the synthesis and recycling of glutathione are outlined (Meister, 1988).
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
Phase II conjugation, organism-specific biosystem (from REACTOME)
Phase II conjugation, organism-specific biosystemPhase II of biotransformation is concerned with conjugation, that is using groups from cofactors to react with functional groups present or introduced from phase I on the compound. The enzymes involv...
Selenium Pathway, organism-specific biosystem (from WikiPathways)
Selenium Pathway, organism-specific biosystem
Selenium Pathway
Synthesis of Leukotrienes (LT) and Eoxins (EX), organism-specific biosystem (from REACTOME)
Synthesis of Leukotrienes (LT) and Eoxins (EX), organism-specific biosystemLeukotrienes (LTs) are biologically active molecules formed in response to inflammatory stimuli. They cause contraction of bronchial smooth muscles, stimulation of vascular permeability, and attracti...
Taurine and hypotaurine metabolism, organism-specific biosystem (from KEGG)
Taurine and hypotaurine metabolism, organism-specific biosystem
Taurine and hypotaurine metabolism
Taurine and hypotaurine metabolism, conserved biosystem (from KEGG)
Taurine and hypotaurine metabolism, conserved biosystem
Taurine and hypotaurine metabolism
gamma-glutamyl cycle, organism-specific biosystem (from BIOCYC)
gamma-glutamyl cycle, organism-specific biosystem
gamma-glutamyl cycle
glutathione-mediated detoxification I, organism-specific biosystem (from BIOCYC)
glutathione-mediated detoxification I, organism-specific biosystemPlease note: This is a general detoxification pathway, where the first step can be catalyzed by many different enzymes, collectively known as glutathione transferases, or GSTs. In the first reaction,...
leukotriene biosynthesis, organism-specific biosystem (from BIOCYC)
leukotriene biosynthesis, organism-specific biosystemLeukotrienes are made by cells of the immune system, mainly the mediators of inflammation like polymorphonuclear leukocytes, macrophages and mast cells. Cellular activation during inflammation leads ...

General gene information

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Markers

L17688 (e-PCR)
- UniSTS:74509

D8S2279 (e-PCR)
- UniSTS:473907

J05235 (e-PCR)
- UniSTS:31837

D15S1477 (e-PCR)
- UniSTS:474482

D22S732 (e-PCR)
- UniSTS:42929

RH79893 (e-PCR)
- UniSTS:87241

NoName (e-PCR)
- UniSTS:480989

GDB:190922 (e-PCR)
- UniSTS:155632

NoName (e-PCR)
- UniSTS:485874

Genotypes

See GGT1 SNP Geneview Report
See GGT1 SNP Genotype Report
See GGT1 SNP Variation Viewer Report

Homology

Homologs of the GGT1 gene: The GGT1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, and A.thaliana.
Map Viewer (Mouse)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

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	IEA Inferred from Electronic Annotation 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
glutathione biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
glutathione 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

Component	Evidence Code	Pubs
anchored to external side of plasma membrane	TAS Traceable Author Statement more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	NAS Non-traceable Author Statement more info
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: gamma-glutamyltranspeptidase 1

Names: gamma-glutamyltranspeptidase 1; glutamyl transpeptidase; glutathione hydrolase 1; leukotriene-C4 hydrolase; gamma-glutamyl transpeptidase

NP_001027536.1

EC 2.3.2.2

EC 3.4.19.13

EC 3.4.19.14

NP_001027537.1

EC 2.3.2.2

EC 3.4.19.13

EC 3.4.19.14

NP_005256.2

EC 2.3.2.2

EC 3.4.19.13

EC 3.4.19.14

NP_038347.2

EC 2.3.2.2

EC 3.4.19.13

EC 3.4.19.14

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.

Genomic

NG_008111.1 RefSeqGene

Range

5001..50255

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001032364.2 → NP_001027536.1 gamma-glutamyltranspeptidase 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 3, 4, and 5 all encode the same protein.

Source sequence(s)

AP000356, AU077341, BC025927, BM673976

Consensus CDS

CCDS42992.1

UniProtKB/Swiss-Prot

P19440

Related

ENSP00000383231, OTTHUMP00000028921, ENST00000400380, OTTHUMT00000075747

Conserved Domains (2) summary

COG0405
Location:27 – 569
Blast Score: 1135

Ggt; Gamma-glutamyltransferase [Amino acid transport and metabolism]

pfam01019
Location:55 – 564
Blast Score: 1539

G_glu_transpept; Gamma-glutamyltranspeptidase
NM_001032365.2 → NP_001027537.1 gamma-glutamyltranspeptidase 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 3, 4, and 5 all encode the same protein.

Source sequence(s)

AP000356, BC025927, BM673976, BU157907

Consensus CDS

CCDS42992.1

UniProtKB/Swiss-Prot

P19440

Related

ENSP00000385975, ENST00000406383

Conserved Domains (2) summary

COG0405
Location:27 – 569
Blast Score: 1135

Ggt; Gamma-glutamyltransferase [Amino acid transport and metabolism]

pfam01019
Location:55 – 564
Blast Score: 1539

G_glu_transpept; Gamma-glutamyltranspeptidase
NM_005265.2 → NP_005256.2 gamma-glutamyltranspeptidase 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 3, 4, and 5 all encode the same protein.

Source sequence(s)

AU077341, BC025927, BM673976

Consensus CDS

CCDS42992.1

UniProtKB/Swiss-Prot

P19440

Related

ENSP00000383233, ENST00000400383

Conserved Domains (2) summary

COG0405
Location:27 – 569
Blast Score: 1135

Ggt; Gamma-glutamyltransferase [Amino acid transport and metabolism]

pfam01019
Location:55 – 564
Blast Score: 1539

G_glu_transpept; Gamma-glutamyltranspeptidase
NM_013430.2 → NP_038347.2 gamma-glutamyltranspeptidase 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3, 4, and 5 all 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 (2) summary

COG0405
Location:27 – 569
Blast Score: 1135

Ggt; Gamma-glutamyltransferase [Amino acid transport and metabolism]

pfam01019
Location:55 – 564
Blast Score: 1539

G_glu_transpept; Gamma-glutamyltranspeptidase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000022.10 Reference GRCh37.p10 Primary Assembly

Range

24979718..25024972

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000154.1 Alternate HuRef

Range

7929404..7974708

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018933.1 Alternate CHM1_1.0

Range

8902733..8947866

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01055141.1 (30932..60461)	None
genomic	ABBA01055142.1	None
genomic	ABBA01055143.1	None
genomic	AC000051.2	None
genomic	AJ006806.1	None
genomic	AJ006854.1	CAA07266.1
genomic	AJ007378.1	CAA07485.1
genomic	AJ007379.1	CAA07486.1
genomic	AJ007380.1	CAA07487.1
genomic	AJ007493.1	CAA07536.1
genomic	AJ230125.1	None
genomic	AMYH01012668.1 (8119..29403)	None
genomic	AMYH01012669.1	None
genomic	AMYH01012670.1	None
genomic	AP000356.1 (76049..121303)	None
mRNA	AL832738.1	None
mRNA	AU077341.1	None
mRNA	BC025927.1	AAH25927.1
mRNA	BC035341.1	None
mRNA	BC065921.1	AAH65921.1
mRNA	BC069326.1	AAH69326.1
mRNA	BC069473.1	AAH69473.1
mRNA	BC069504.1	AAH69504.1
mRNA	BC128234.1	AAI28235.1
mRNA	BC128238.1	AAI28239.1
mRNA	BC128239.1	AAI28240.1
mRNA	BM673976.1	None
mRNA	BU157907.1	None
mRNA	BU164348.1	None
mRNA	CR456494.1	CAG30380.1
mRNA	DQ000492.2	None
mRNA	J04131.1	AAA52547.1
mRNA	J05235.1	AAA35889.1
mRNA	L20490.1	AAA02884.1
mRNA	L20493.1	AAA02886.1
mRNA	L20494.1	AAA02887.2
mRNA	M24087.1	AAA35899.1
mRNA	M24903.1	AAA52546.1
mRNA	X60069.1	CAA42674.1
other-genetic	CU013091.1	CAK54522.1
other-genetic	CU013379.1	CAK54821.1
other-genetic	DQ893412.2	ABM84338.1
other-genetic	DQ895950.2	ABM86876.1