• Gene id: 171425

Gene Summary

• Gene Symbol: CLYBL   Gene   UCSC   Ensembl
• Aliases: CLB
• Gene name: citramalyl-CoA lyase
• Alternate names: citramalyl-CoA lyase, mitochondrial, (3S)-malyl-CoA thioesterase, beta-methylmalate synthase, citrate lyase beta like, citrate lyase subunit beta-like protein, mitochondrial, malate synthase,
• Gene location: 13q32.3 (99606663: 99909443)     Exons: 11     NC_000013.11
• OMIM: 126063

Protein Summary

• Protein general information: Q8N0X4  
  • Name: Citramalyl CoA lyase, mitochondrial (EC 4.1.3.25) ((3S) malyl CoA thioesterase) (EC 3.1.2.30) (Beta methylmalate synthase) (EC 2.3.3. ) (Citrate lyase subunit beta like protein) (Citrate lyase beta like) (Malate synthase) (EC 2.3.3.9)
  • Length: 340  
  • Mass: 37359
• Sequence:

  MALRLLRRAARGAAAAALLRLKASLAADIPRLGYSSSSHHKYIPRRAVLYVPGNDEKKIKKIPSLNVDCAVLDCE
  DGVAANKKNEARLRIVKTLEDIDLGPTEKCVRVNSVSSGLAEEDLETLLQSRVLPSSLMLPKVESPEEIQWFADK
  FSFHLKGRKLEQPMNLIPFVETAMGLLNFKAVCEETLKVGPQVGLFLDAVVFGGEDFRASIGATSSKETLDILYA
  RQKIVVIAKAFGLQAIDLVYIDFRDGAGLLRQSREGAAMGFTGKQVIHPNQIAVVQEQFSPSPEKIKWAEELIAA
  FKEHQQLGKGAFTFQGSMIDMPLLKQAQNTVTLATSIKEK

• Structural information:
  • Interpro: IPR005000  IPR040186  IPR011206  IPR015813  IPR040442  
  • PDB: 5VXC 5VXO 5VXS
  • PDBsum: 5VXC 5VXO 5VXS
  • STRING: ENSP00000365533
• Other Databases: GeneCards:  CLYBL  Malacards:  CLYBL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0106064	regulation of cobalamin metabolic process	IBA	biological process
GO:0047777	(S)-citramalyl-CoA lyase activity	IBA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0070207	protein homotrimerization	IDA	biological process
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0047777	(S)-citramalyl-CoA lyase activity	IDA	molecular function
GO:0004474	malate synthase activity	IDA	molecular function
GO:0106064	regulation of cobalamin metabolic process	IDA	biological process
GO:0004474	malate synthase activity	IDA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004474	malate synthase activity	IEA	molecular function
GO:0047777	(S)-citramalyl-CoA lyase activity	IEA	molecular function
GO:0106064	regulation of cobalamin metabolic process	IEA	biological process
GO:0047777	(S)-citramalyl-CoA lyase activity	IEA	molecular function
GO:0106121	positive regulation of cobalamin metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray