GGT1 (gamma-glutamyltransferase 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2678
Gene name Gamma-glutamyltransferase 1
Gene symbol GGT1
Synonyms (NCBI Gene)
CD224D22S672D22S732GGTGGT 1GGTDGTG
Chromosome 22
Chromosome location 22q11.23
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 a
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
miRTarBase ID miRNA Experiments Reference
MIRT1018247 hsa-miR-1321 CLIP-seq
MIRT1018248 hsa-miR-1972 CLIP-seq
MIRT1018249 hsa-miR-4254 CLIP-seq
MIRT1018250 hsa-miR-4270 CLIP-seq
MIRT1018251 hsa-miR-4441 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000048 Function Peptidyltransferase activity IDA 21447318
GO:0002682 Process Regulation of immune system process IBA
GO:0002682 Process Regulation of immune system process ISS
GO:0002951 Function Leukotriene-C(4) hydrolase IDA 21447318
GO:0002951 Function Leukotriene-C(4) hydrolase IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612346 4250 ENSG00000100031
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P19440
Protein name Glutathione hydrolase 1 proenzyme (EC 3.4.19.13) (Gamma-glutamyltransferase 1) (Gamma-glutamyltranspeptidase 1) (GGT 1) (EC 2.3.2.2) (Leukotriene-C4 hydrolase) (EC 3.4.19.14) (CD antigen CD224) [Cleaved into: Glutathione hydrolase 1 heavy chain; Glutathio
Protein function Cleaves the gamma-glutamyl bond of extracellular glutathione (gamma-Glu-Cys-Gly), glutathione conjugates (such as maresin conjugate (13R)-S-glutathionyl-(14S)-hydroxy-(4Z,7Z,9E,11E,16Z,19Z)-docosahexaenoate, MCTR1) and other gamma-glutamyl compo
PDB 4GDX , 4GG2 , 4Z9O , 4ZBK , 4ZC6 , 4ZCG , 5V4Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01019 G_glu_transpept 55 → 564 Domain
Tissue specificity TISSUE SPECIFICITY: Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein.; TISSUE SP
Sequence
Sequence length 569
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Taurine and hypotaurine metabolism
Glutathione metabolism
Arachidonic acid metabolism
Metabolic pathways 		  Glutathione synthesis and recycling
Synthesis of Leukotrienes (LT) and Eoxins (EX)
Aflatoxin activation and detoxification
Defective GGT1 causes Glutathionuria (GLUTH)
Defective GGT1 causes Glutathionuria (GLUTH)
LTC4-CYSLTR mediated IL4 production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Benign rs371333741 RCV005919697
gamma-Glutamyltransferase deficiency Uncertain significance; Benign rs751587531, rs4049829 RCV001330548
RCV001702959
Sarcoma Benign rs371333741 RCV005919698
Thymoma Benign rs371333741 RCV005919699
Show/Hide Text Mining Associations (128)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 32532356
Acute On Chronic Liver Failure Associate 36505417
Alagille Syndrome Inhibit 40634917
Alcoholism Associate 27905213
alpha 1 Antitrypsin Deficiency Stimulate 20397813
Alzheimer Disease Associate 29505811
Arthritis Juvenile Stimulate 30847869
Asthma Associate 24047895, 26013825
Atherosclerosis Associate 26463174, 36293061
Biliary Atresia Associate 26728861, 40634917