• Gene id: 1431

Gene Summary

• Gene Symbol: CS   Gene   UCSC   Ensembl
• Gene name: citrate synthase
• Alternate names: citrate synthase, mitochondrial, citrate (Si)-synthase,
• Gene location: 12q13.3 (56300329: 56271698)     Exons: 11     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear en
• OMIM: 617739

Protein Summary

• Protein general information: O75390  
  • Name: Citrate synthase, mitochondrial (EC 2.3.3.1) (Citrate (Si) synthase)
  • Length: 466  
  • Mass: 51712
• Sequence:

  MALLTAAARLLGTKNASCLVLAARHASASSTNLKDILADLIPKEQARIKTFRQQHGKTVVGQITVDMMYGGMRGM
  KGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSH
  VVTMLDNFPTNLHPMSQLSAAVTALNSESNFARAYAQGISRTKYWELIYEDSMDLIAKLPCVAAKIYRNLYREGS
  GIGAIDSNLDWSHNFTNMLGYTDHQFTELTRLYLTIHSDHEGGNVSAHTSHLVGSALSDPYLSFAAAMNGLAGPL
  HGLANQEVLVWLTQLQKEVGKDVSDEKLRDYIWNTLNSGRVVPGYGHAVLRKTDPRYTCQREFALKHLPNDPMFK
  LVAQLYKIVPNVLLEQGKAKNPWPNVDAHSGVLLQYYGMTEMNYYTVLFGVSRALGVLAQLIWSRALGFPLERPK
  SMSTEGLMKFVDSKSG

• Structural information:
  • Interpro: IPR016142  IPR016143  IPR002020  IPR019810  IPR010109   IPR036969  
  • Prosite: PS00480
  • PDB: 5UZP 5UZQ 5UZR
  • PDBsum: 5UZP 5UZQ 5UZR
  • STRING: ENSP00000342056
• Other Databases: GeneCards:  CS  Malacards:  CS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006099	tricarboxylic acid cycle	IBA	biological process
GO:0005975	carbohydrate metabolic process	IBA	biological process
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0004108	citrate (Si)-synthase activity	IBA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0006101	citrate metabolic process	IEA	biological process
GO:0004108	citrate (Si)-synthase activity	IEA	molecular function
GO:0046912	transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0004108	citrate (Si)-synthase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006099	tricarboxylic acid cycle	TAS	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0005975	carbohydrate metabolic process	IDA	biological process
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0004108	citrate (Si)-synthase activity	IDA	molecular function
GO:0005739	mitochondrion	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006099	tricarboxylic acid cycle	IBA	biological process
GO:0005975	carbohydrate metabolic process	IBA	biological process
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0004108	citrate (Si)-synthase activity	IBA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0006101	citrate metabolic process	IEA	biological process
GO:0004108	citrate (Si)-synthase activity	IEA	molecular function
GO:0046912	transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0004108	citrate (Si)-synthase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006099	tricarboxylic acid cycle	TAS	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0005975	carbohydrate metabolic process	IDA	biological process
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0004108	citrate (Si)-synthase activity	IDA	molecular function
GO:0005739	mitochondrion	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids
hsa00630	Glyoxylate and dicarboxylate metabolism
hsa00020	Citrate cycle
hsa01210	2-Oxocarboxylic acid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray