Gene Gene information from NCBI Gene database.
Entrez ID 79094
Gene name ChaC glutathione specific gamma-glutamylcyclotransferase 1
Gene symbol CHAC1
Synonyms (NCBI Gene)
-
Chromosome 15
Chromosome location 15q15.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
556
miRTarBase ID miRNA Experiments Reference
MIRT017672 hsa-miR-335-5p Microarray 18185580
MIRT072103 hsa-miR-548at-5p PAR-CLIP 20371350
MIRT072097 hsa-miR-561-3p PAR-CLIP 20371350
MIRT548843 hsa-miR-5692a PAR-CLIP 20371350
MIRT548842 hsa-miR-224-5p PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ATF4 Activation 21737788
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0003839 Function Gamma-glutamylcyclotransferase activity TAS
GO:0005112 Function Notch binding IEA
GO:0005112 Function Notch binding ISS
GO:0005515 Function Protein binding IPI 16189514
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614587 28680 ENSG00000128965
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BUX1
Protein name Glutathione-specific gamma-glutamylcyclotransferase 1 (Gamma-GCG 1) (EC 4.3.2.7) (Blocks Notch protein) (Botch) (Cation transport regulator-like protein 1)
Protein function Catalyzes the cleavage of glutathione into 5-oxo-L-proline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides (PubMed:27913623). Glutathione depletion is an important factor for apoptosis initiati
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04752 ChaC 33 208 ChaC-like protein Family
Sequence
Sequence length 222
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glutathione metabolism
Metabolic pathways
  Glutathione synthesis and recycling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 22108517, 29091014
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22108517, 29091014, 37643511, 39214479 Associate
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt`s Lymphoma BEFREE 31537387
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 39273406 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 33728749 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 22108517
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic Fibrosis BEFREE 30555487
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic fibrosis Pubtator 30555487 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 29316219
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 29316219 Associate
★☆☆☆☆
Found in Text Mining only