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

Summary

Official Symbol: GGT1provided by HGNC
Official Full Name: gamma-glutamyltransferase 1provided by HGNC
Primary source: HGNC:HGNC:4250
See related: Ensembl:ENSG00000100031 MIM:612346; AllianceGenome:HGNC:4250
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: mouse all
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Genomic context

Location:: 22q11.23

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (24583750..24628996)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (25045351..25090447)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (24979718..25024963)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The importance of the enzyme Gamma-glutamyltransferase in the pathogenic cluster in type2 diabetic patient.
Title: The importance of the enzyme Gamma-glutamyltransferase in the pathogenic cluster in type2 diabetic patient.
GGT1 is a SNP eQTL gene involved in STAT3 activation and associated with the development of Post-ERCP pancreatitis.
Title: GGT1 is a SNP eQTL gene involved in STAT3 activation and associated with the development of Post-ERCP pancreatitis.
The discovery of GGT1 as a novel gene for ischemic stroke conferring protection against disease risk in non-smokers and non-abusers of alcohol.
Title: The discovery of GGT1 as a novel gene for ischemic stroke conferring protection against disease risk in non-smokers and non-abusers of alcohol.
Higher gamma-glutamyl transferase levels are associated with an increased risk of incident systemic sclerosis: a nationwide population-based study.
Title: Higher gamma-glutamyl transferase levels are associated with an increased risk of incident systemic sclerosis: a nationwide population-based study.
The relationship between serum gamma-glutamyltransferase (GGT) and diabetic nephropathy in patients with type 2 diabetes mellitus: a cross-sectional study.
Title: The relationship between serum γ-glutamyltransferase (GGT) and diabetic nephropathy in patients with type 2 diabetes mellitus: a cross-sectional study.
Potential Causal Association between Elevated Gamma-Glutamyl Transferase Level and Stroke: A Two-Sample Mendelian Randomization Study.
Title: Potential Causal Association between Elevated Gamma-Glutamyl Transferase Level and Stroke: A Two-Sample Mendelian Randomization Study.
Clinical application value of hepatitis B virus basal core promoter 1762/1764 and GGTII and GGT in patients with HBV-DNA-positive primary liver cancer.
Title: Clinical application value of hepatitis B virus basal core promoter 1762/1764 and GGTII and GGT in patients with HBV-DNA-positive primary liver cancer.
Relationship between slow-wave sleep and serum gamma-glutamine transaminase in non-obese men with obstructive sleep apnea-hypopnea syndrome.
Title: Relationship between slow-wave sleep and serum γ-glutamine transaminase in non-obese men with obstructive sleep apnea-hypopnea syndrome.
Association between the accumulation of elevated serum gamma-glutamyltransferase level and risk of atrial fibrillation: a nationwide cohort study.
Title: Association between the accumulation of elevated serum γ-glutamyltransferase level and risk of atrial fibrillation: a nationwide cohort study.
Association of gamma-glutamyl transferase variability with risk of osteoporotic fractures: A nationwide cohort study.
Title: Association of gamma-glutamyl transferase variability with risk of osteoporotic fractures: A nationwide cohort study.

Submit: New GeneRIF Correction See all GeneRIFs (189)

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

Associated conditions

Description	Tests
gamma-Glutamyltransferase deficiency MedGen: C0268524 OMIM: 231950 GeneReviews: Not available	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glutathione hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glutathione hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables glutathione hydrolase activity	TAS Traceable Author Statement more info
enables leukotriene C4 gamma-glutamyl transferase activity	IEA Inferred from Electronic Annotation more info
enables leukotriene-C(4) hydrolase	IDA Inferred from Direct Assay more info	PubMed
enables leukotriene-C(4) hydrolase	IMP Inferred from Mutant Phenotype more info	PubMed
enables peptidyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in amino acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cysteine biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glutamate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glutathione biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in glutathione catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glutathione catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in leukotriene D4 biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in leukotriene D4 biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in leukotriene metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in peptide modification	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of immune system process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of immune system process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in zymogen activation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: glutathione hydrolase 1 proenzyme

Names: gamma-glutamyltranspeptidase 1; leukotriene-C4 hydrolase; testicular tissue protein Li 73

NP_001275762.1

EC 2.3.2.2

EC 3.4.19.13

EC 3.4.19.14

NP_038265.2

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_008111.2 RefSeqGene

Range

24445..50248

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001288833.2 → NP_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

A6NGU5, P19440, Q08247, Q14404, Q8TBS1, Q9UMK1

UniProtKB/TrEMBL

A0A140VJJ9

Related

ENSP00000383232.1, ENST00000400382.6

Conserved Domains (1) summary

pfam01019
Location:56 → 564

G_glu_transpept; Gamma-glutamyltranspeptidase
NM_013421.3 → NP_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

A6NGU5, P19440, Q08247, Q14404, Q8TBS1, Q9UMK1

UniProtKB/TrEMBL

A0A140VJJ9

Related

ENSP00000383231.1, ENST00000400380.5

Conserved Domains (1) summary

pfam01019
Location:56 → 564

G_glu_transpept; Gamma-glutamyltranspeptidase
NM_013430.3 → NP_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, BU164348, M24903

Consensus CDS

CCDS42992.1

UniProtKB/Swiss-Prot

A6NGU5, P19440, Q08247, Q14404, Q8TBS1, Q9UMK1

UniProtKB/TrEMBL

A0A140VJJ9

Conserved Domains (1) summary

pfam01019
Location:56 → 564

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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

24583750..24628996

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

25045351..25090447

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001032364.2: Suppressed sequence

Description

NM_001032364.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
NM_001032365.2: Suppressed sequence

Description

NM_001032365.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
NM_005265.3: Suppressed sequence

Description

NM_005265.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.