U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 2678, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See GGT1 in Genome Data Viewer
Location:
22q11.23
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24583750..24628996)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25045351..25090447)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24979718..25024963)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene guanylyl cyclase domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24957881-24958382 Neighboring gene small nuclear ribonucleoprotein D3 polypeptide Neighboring gene uncharacterized LOC124905091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24980432-24980932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24980933-24981433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24987467-24988460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24988461-24989453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24990503-24991473 Neighboring gene leucine rich repeat containing 75B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24999043-25000008 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:25000009-25000973 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25003664-25004194 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:25008515-25008883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25016763-25017263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25025816-25026364 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25026365-25026914 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25026915-25027462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25027463-25028012 Neighboring gene BCR pseudogene 3 Neighboring gene POM121 transmembrane nucleoporin like 10, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25046823-25047590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25052870-25053379 Neighboring gene ARL5A pseudogene 4 Neighboring gene ACTR2 pseudogene 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Association of gamma-glutamyl transferase variability with risk of osteoporotic fractures: A nationwide cohort study. Kim D, et al. PLoS One, 2023. PMID 37267386, Free PMC Article
  2. Relationship of Gamma-glutamyl Transferase Levels at Diagnosis with Clinicopathological Features in idiopathic IgA Nephropathy. Kazan S, et al. J Coll Physicians Surg Pak, 2022 Dec. PMID 36474373
  3. To explore association between gamma-glutamyl transferase and type 2 diabetes using a real-world study and mendelian randomization analysis. Bi Y, et al. Front Endocrinol (Lausanne), 2022. PMID 35957835, Free PMC Article
  4. Association between γ-Glutamyltransferase and Head and Neck Cancer in Korean Population: A National Population-Based Study. Lee DH, et al. Cancer Epidemiol Biomarkers Prev, 2022 Oct 4. PMID 35944063
  5. Apparently healthy adults with high serum gamma-glutamyl transferase levels are at increased risk of asthma development in the near future: a Korean nationwide cohort study. Shin DMS, et al. Eur Rev Med Pharmacol Sci, 2022 Jun. PMID 35731066

See all (253) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Serum Inflammation Parameters and Survival in Hepatocellular Carcinoma Patients: Importance of Albumin and Gamma-Glutamyltranspeptidase.
    Title: Serum Inflammation Parameters and Survival in Hepatocellular Carcinoma Patients: Importance of Albumin and Gamma-Glutamyltranspeptidase.
  9. gammaGT and PCSK9 variants in subjects with hyper-LDL-cholesterolemia.
    Title: γGT and PCSK9 variants in subjects with hyper-LDL-cholesterolemia.
  10. Relationship of Gamma-glutamyl Transferase Levels at Diagnosis with Clinicopathological Features in idiopathic IgA Nephropathy.
    Title: Relationship of Gamma-glutamyl Transferase Levels at Diagnosis with Clinicopathological Features in idiopathic IgA Nephropathy.
Submit: New GeneRIF Correction See all GeneRIFs (186)

Phenotypes

Go to the top of the page Help

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
Compare labs

EBI GWAS Catalog

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC96892, MGC96904, MGC96963

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 PubMed 
located_in extracellular space HDA 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

Go to the top of the page Help
Preferred Names
glutathione hydrolase 1 proenzyme
Names
gamma-glutamyltranspeptidase 1
leukotriene-C4 hydrolase
testicular tissue protein Li 73
NP_001275762.1
NP_038265.2
NP_038347.2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_008111.2 RefSeqGene

    Range
    24445..50248
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    24583750..24628996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. 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

  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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P19440.2 GenPept UniProtKB/Swiss-Prot:P19440

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Other Literature Sources
Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous