• Gene id: 2678

Gene Summary

• Gene Symbol: GGT1   Gene   UCSC   Ensembl
• Aliases: CD224, D22S672, D22S732, GGT, GGT 1, GGTD, GTG
• Gene name: gamma-glutamyltransferase 1
• Alternate names: glutathione hydrolase 1 proenzyme, gamma-glutamyltranspeptidase 1, glutathione hydrolase 1, leukotriene-C4 hydrolase, testicular tissue protein Li 73,
• Gene location: 22q11.23 (24583749: 24629004)     Exons: 18     NC_000022.11
• Gene summary(Entrez): 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
• OMIM: 616762

Protein Summary

• Protein general information: P19440  
  • 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
  • Length: 569  
  • Mass: 61410
  • Tissue specificity: Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce
• Sequence:

  MKKKLVVLGLLAVVLVLVIVGLCLWLPSASKEPDNHVYTRAAVAADAKQCSKIGRDALRDGGSAVDAAIAALLCV
  GLMNAHSMGIGGGLFLTIYNSTTRKAEVINAREVAPRLAFATMFNSSEQSQKGGLSVAVPGEIRGYELAHQRHGR
  LPWARLFQPSIQLARQGFPVGKGLAAALENKRTVIEQQPVLCEVFCRDRKVLREGERLTLPQLADTYETLAIEGA
  QAFYNGSLTAQIVKDIQAAGGIVTAEDLNNYRAELIEHPLNISLGDVVLYMPSAPLSGPVLALILNILKGYNFSR
  ESVESPEQKGLTYHRIVEAFRFAYAKRTLLGDPKFVDVTEVVRNMTSEFFAAQLRAQISDDTTHPISYYKPEFYT
  PDDGGTAHLSVVAEDGSAVSATSTINLYFGSKVRSPVSGILFNNEMDDFSSPSITNEFGVPPSPANFIQPGKQPL
  SSMCPTIMVGQDGQVRMVVGAAGGTQITTATALAIIYNLWFGYDVKRAVEEPRLHNQLLPNVTTVERNIDQAVTA
  ALETRHHHTQIASTFIAVVQAIVRTAGGWAAASDSRKGGEPAGY

• Structural information:
  • Interpro: IPR000101  IPR029055  
  • Prosite: PS00462
  • PDB: 4GDX 4GG2 4Z9O 4ZBK 4ZC6 4ZCG 5V4Q
  • PDBsum: 4GDX 4GG2 4Z9O 4ZBK 4ZC6 4ZCG 5V4Q
  • STRING: ENSP00000383232
• Other Databases: GeneCards:  GGT1  Malacards:  GGT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050727	regulation of inflammatory response	IBA	biological process
GO:0034612	response to tumor necrosis factor	IBA	biological process
GO:0032355	response to estradiol	IBA	biological process
GO:0031179	peptide modification	IBA	biological process
GO:0007283	spermatogenesis	IBA	biological process
GO:0002682	regulation of immune system process	IBA	biological process
GO:0036374	glutathione hydrolase activity	IBA	molecular function
GO:0032496	response to lipopolysaccharide	IBA	biological process
GO:0006751	glutathione catabolic process	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0000048	peptidyltransferase activity	IBA	molecular function
GO:0036374	glutathione hydrolase activity	IDA	molecular function
GO:0031638	zymogen activation	IDA	biological process
GO:0006751	glutathione catabolic process	IDA	biological process
GO:0006536	glutamate metabolic process	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0036374	glutathione hydrolase activity	IDA	molecular function
GO:0036374	glutathione hydrolase activity	IDA	molecular function
GO:0006751	glutathione catabolic process	IEA	biological process
GO:0036374	glutathione hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0006750	glutathione biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006520	cellular amino acid metabolic process	TAS	biological process
GO:0036374	glutathione hydrolase activity	IEA	molecular function
GO:0102953	hypoglycin A gamma-glutamyl transpeptidase activity	IEA	molecular function
GO:0103068	leukotriene C4 gamma-glutamyl transferase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006691	leukotriene metabolic process	TAS	biological process
GO:0006750	glutathione biosynthetic process	TAS	biological process
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0002951	leukotriene-C(4) hydrolase	IDA	molecular function
GO:0000048	peptidyltransferase activity	IDA	molecular function
GO:1901750	leukotriene D4 biosynthetic process	IDA	biological process
GO:0006751	glutathione catabolic process	IDA	biological process
GO:0006631	fatty acid metabolic process	IDA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006412	translation	IEA	biological process
GO:0006412	translation	IEA	biological process
GO:0006749	glutathione metabolic process	IEA	biological process
GO:0006520	cellular amino acid metabolic process	IDA	biological process
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0050727	regulation of inflammatory response	ISS	biological process
GO:1901750	leukotriene D4 biosynthetic process	IMP	biological process
GO:0006750	glutathione biosynthetic process	ISS	biological process
GO:0002951	leukotriene-C(4) hydrolase	IMP	molecular function
GO:0006508	proteolysis	IMP	biological process
GO:0019344	cysteine biosynthetic process	ISS	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0002682	regulation of immune system process	ISS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00590	Arachidonic acid metabolism
hsa00480	Glutathione metabolism
hsa00430	Taurine and hypotaurine metabolism

Diseases

Associated diseases	References
Non-alcoholic fatty liver	PMID:23730648
Gestational diabetes	PMID:18937705
Biliary atresia	PMID:29056230
Melanoma	PMID:6120756
hepatocellular carcinoma	PMID:27793641
Diabetic retinopathy	PMID:11311965
diabetes mellitus	PMID:17888134
type 2 diabetes mellitus	PMID:19936701
Fatty liver disease	PMID:19670414
Diabetic neuropathy	PMID:11311965
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 18367176

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
18367176	Male infertility				Male infertility	Microarray