GGT1 (gamma-glutamyltransferase 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2678
Gene name Gene Name - the full gene name approved by the HGNC.
Gamma-glutamyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GGT1
Synonyms (NCBI Gene) Gene synonyms aliases
CD224, D22S672, D22S732, GGT, GGT 1, GGTD, GTG
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(45)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612346 4250 ENSG00000100031
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Duodenal Ulcer Duodenal ulcer N/A N/A GWAS
Gastric ulcer Gastric ulcer N/A N/A GWAS
Show/Hide Text Mining Associations (128)
Associations from Text Mining Disease 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