• Gene id: 134147

Gene Summary

• Gene Symbol: CMBL   Gene   UCSC   Ensembl
• Aliases: JS-1
• Gene name: carboxymethylenebutenolidase homolog
• Alternate names: carboxymethylenebutenolidase homolog, carboxymethylenebutenolidase homolog (Pseudomonas), carboxymethylenebutenolidase-like (Pseudomonas),
• Gene location: 5p15.2 (10307901: 10277594)     Exons: 6     NC_000005.10
• Gene summary(Entrez): CMBL (EC 3.1.1.45) is a cysteine hydrolase of the dienelactone hydrolase family that is highly expressed in liver cytosol. CMBL preferentially cleaves cyclic esters, and it activates medoxomil-ester prodrugs in which the medoxomil moiety is linked to an o
• OMIM: 300482

Protein Summary

• Protein general information: Q96DG6  
  • Name: Carboxymethylenebutenolidase homolog (EC 3.1. . )
  • Length: 245  
  • Mass: 28048
  • Tissue specificity: Widely expressed, with highest levels in liver, followed by kidney, small intestine and colon. Present in liver and intestine (at protein level). {ECO
• Sequence:

  MANEAYPCPCDIGHRLEYGGLGREVQVEHIKAYVTKSPVDAGKAVIVIQDIFGWQLPNTRYIADMISGNGYTTIV
  PDFFVGQEPWDPSGDWSIFPEWLKTRNAQKIDREISAILKYLKQQCHAQKIGIVGFCWGGTAVHHLMMKYSEFRA
  GVSVYGIVKDSEDIYNLKNPTLFIFAENDVVIPLKDVSLLTQKLKEHCKVEYQIKTFSGQTHGFVHRKREDCSPA
  DKPYIDEARRNLIEWLNKYM

• Structural information:
  • Interpro: IPR029058  IPR042946  IPR002925  
  • STRING: ENSP00000296658
• Other Databases: GeneCards:  CMBL  Malacards:  CMBL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0016787	hydrolase activity	TAS	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

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