• Gene id: 54675

Gene Summary

• Gene Symbol: CRLS1   Gene   UCSC   Ensembl
• Aliases: C20orf155, CLS, CLS1, GCD10, dJ967N21.6
• Gene name: cardiolipin synthase 1
• Alternate names: cardiolipin synthase (CMP-forming),
• Gene location: 20p12.3 (6005937: 6040052)     Exons: 11     NC_000020.11
• Gene summary(Entrez): This gene encodes a member of the CDP-alcohol phosphatidyltransferase class-I family of proteins. The encoded enzyme catalyzes the synthesis of cardiolipin, a phospholipid component of mitochondrial membranes that is critical for mitochondrial function. [
• OMIM: 605014

Protein Summary

• Protein general information: Q9UJA2  
  • Name: Cardiolipin synthase (CMP forming) (CLS) (EC 2.7.8.41) (Protein GCD10 homolog)
  • Length: 301  
  • Mass: 32593
  • Tissue specificity: Highly expressed in tissues such as heart, skeletal muscle and liver. {ECO
• Sequence:

  MLALRVARGSWGALRGAAWAPGTRPSKRRACWALLPPVPCCLGCLAERWRLRPAALGLRLPGIGQRNHCSGAGKA
  APRPAAGAGAAAEAPGGQWGPASTPSLYENPWTIPNMLSMTRIGLAPVLGYLIIEEDFNIALGVFALAGLTDLLD
  GFIARNWANQRSALGSALDPLADKILISILYVSLTYADLIPVPLTYMIISRDVMLIAAVFYVRYRTLPTPRTLAK
  YFNPCYATARLKPTFISKVNTAVQLILVAASLAAPVFNYADSIYLQILWCFTAFTTAASAYSYYHYGRKTVQVIK
  D

• Structural information:
  • Interpro: IPR000462  
  • STRING: ENSP00000368140
• Other Databases: GeneCards:  CRLS1  Malacards:  CRLS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008808	cardiolipin synthase activity	IBA	molecular function
GO:0032049	cardiolipin biosynthetic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0046474	glycerophospholipid biosynthetic process	IBA	biological process
GO:0016780	phosphotransferase activity, for other substituted phosphate groups	IEA	molecular function
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0036148	phosphatidylglycerol acyl-chain remodeling	TAS	biological process
GO:0047144	2-acylglycerol-3-phosphate O-acyltransferase activity	TAS	molecular function
GO:0003841	1-acylglycerol-3-phosphate O-acyltransferase activity	TAS	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0032049	cardiolipin biosynthetic process	TAS	biological process
GO:0043337	CDP-diacylglycerol-phosphatidylglycerol phosphatidyltransferase activity	TAS	molecular function
GO:1905711	response to phosphatidylethanolamine	IEA	biological process
GO:0008808	cardiolipin synthase activity	IEA	molecular function
GO:0097068	response to thyroxine	IEA	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00564	Glycerophospholipid metabolism

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