• Gene id: 79017

Gene Summary

• Gene Symbol: GGCT   Gene   UCSC   Ensembl
• Aliases: C7orf24, CRF21, GCTG, GGC
• Gene name: gamma-glutamylcyclotransferase
• Alternate names: gamma-glutamylcyclotransferase, cytochrome c-releasing factor 21, gamma -glutamyl cyclotransferase,
• Gene location: 7p14.3 (30504840: 30496620)     Exons: 5     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in c
• OMIM: 137170

Protein Summary

• Protein general information: O75223  
  • Name: Gamma glutamylcyclotransferase (EC 4.3.2.9) (Cytochrome c releasing factor 21)
  • Length: 188  
  • Mass: 21008
• Sequence:

  MANSGCKDVTGPDEESFLYFAYGSNLLTERIHLRNPSAAFFCVARLQDFKLDFGNSQGKTSQTWHGGIATIFQSP
  GDEVWGVVWKMNKSNLNSLDEQEGVKSGMYVVIEVKVATQEGKEITCRSYLMTNYESAPPSPQYKKIICMGAKEN
  GLPLEYQEKLKAIEPNDYTGKVSEEIEDIIKKGETQTL

• Structural information:
  • Interpro: IPR017939  IPR013024  IPR036568  
  • CDD: cd06661
  • PDB: 2I5T 2PN7 2Q53 2RBH 3CRY
  • PDBsum: 2I5T 2PN7 2Q53 2RBH 3CRY
  • STRING: ENSP00000275428
• Other Databases: GeneCards:  GGCT  Malacards:  GGCT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003839	gamma-glutamylcyclotransferase activity	IBA	molecular function
GO:0003839	gamma-glutamylcyclotransferase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0003839	gamma-glutamylcyclotransferase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006750	glutathione biosynthetic process	TAS	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0003839	gamma-glutamylcyclotransferase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0001836	release of cytochrome c from mitochondria	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00480	Glutathione metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881