• Gene id: 79094

Gene Summary

• Gene Symbol: CHAC1   Gene   UCSC   Ensembl
• Gene name: ChaC glutathione specific gamma-glutamylcyclotransferase 1
• Alternate names: glutathione-specific gamma-glutamylcyclotransferase 1, ChaC, cation transport regulator homolog 1, ChaC, cation transport regulator-like 1, blocks Notch protein, botch, gamma-GCG 1, gamma-GCT acting on glutathione homolog 1,
• Gene location: 15q15.1 (40942136: 40956517)     Exons: 4     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of the gamma-glutamylcyclotransferase family of proteins. The encoded protein has been shown to promote neuronal differentiation by deglycination of the Notch receptor, which prevents receptor maturation and inhibits Notch signa
• OMIM: 613422

Protein Summary

• Protein general information: Q9BUX1  
  • Name: Glutathione specific gamma glutamylcyclotransferase 1 (Gamma GCG 1) (EC 4.3.2.7) (Blocks Notch protein) (Botch) (Cation transport regulator like protein 1)
  • Length: 222  
  • Mass: 24418
• Sequence:

  MKQESAAPNTPPTSQSPTPSAQFPRNDGDPQALWIFGYGSLVWRPDFAYSDSRVGFVRGYSRRFWQGDTFHRGSD
  KMPGRVVTLLEDHEGCTWGVAYQVQGEQVSKALKYLNVREAVLGGYDTKEVTFYPQDAPDQPLKALAYVATPQNP
  GYLGPAPEEAIATQILACRGFSGHNLEYLLRLADFMQLCGPQAQDEHLAAIVDAVGTMLPCFCPTEQALALV

• Structural information:
  • Interpro: IPR006840  IPR013024  IPR036568  
  • CDD: cd06661
  • STRING: ENSP00000398105
• Other Databases: GeneCards:  CHAC1  Malacards:  CHAC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003839	gamma-glutamylcyclotransferase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006751	glutathione catabolic process	IBA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP	biological process
GO:0045746	negative regulation of Notch signaling pathway	IMP	biological process
GO:0022008	neurogenesis	ISS	biological process
GO:0005802	trans-Golgi network	ISS	cellular component
GO:0005112	Notch binding	ISS	molecular function
GO:0010955	negative regulation of protein processing	IMP	biological process
GO:0003839	gamma-glutamylcyclotransferase activity	IEA	molecular function
GO:0006751	glutathione catabolic process	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0006986	response to unfolded protein	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0061928	glutathione specific gamma-glutamylcyclotransferase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006750	glutathione biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0022008	neurogenesis	IEA	biological process
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0005112	Notch binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00480	Glutathione metabolism

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881