• Gene id: 284111

Gene Summary

• Gene Symbol: SLC13A5   Gene   UCSC   Ensembl
• Aliases: EIEE25, INDY, NACT, mIndy
• Gene name: solute carrier family 13 member 5
• Alternate names: solute carrier family 13 member 5, Na(+)/citrate cotransporter, Na+-coupled citrate transporter protein, sodium-dependent dicarboxylate transporter, solute carrier family 13 (sodium-dependent citrate transporter), member 5,
• Gene location: 17p13.1 (6713399: 6684718)     Exons: 12     NC_000017.11
• Gene summary(Entrez): This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalo
• OMIM: 603198

Protein Summary

• Protein general information: Q86YT5  
  • Name: Solute carrier family 13 member 5 (Na(+)/citrate cotransporter) (NaCT) (Sodium coupled citrate transporter) (Sodium dependent citrate transporter)
  • Length: 568  
  • Mass: 63062
  • Tissue specificity: Expressed most predominantly in the liver, with moderate expression detectable in the brain and testis. {ECO
• Sequence:

  MASALSYVSKFKSFVILFVTPLLLLPLVILMPAKFVRCAYVIILMAIYWCTEVIPLAVTSLMPVLLFPLFQILDS
  RQVCVQYMKDTNMLFLGGLIVAVAVERWNLHKRIALRTLLWVGAKPARLMLGFMGVTALLSMWISNTATTAMMVP
  IVEAILQQMEATSAATEAGLELVDKGKAKELPGSQVIFEGPTLGQQEDQERKRLCKAMTLCICYAASIGGTATLT
  GTGPNVVLLGQMNELFPDSKDLVNFASWFAFAFPNMLVMLLFAWLWLQFVYMRFNFKKSWGCGLESKKNEKAALK
  VLQEEYRKLGPLSFAEINVLICFFLLVILWFSRDPGFMPGWLTVAWVEGETKYVSDATVAIFVATLLFIVPSQKP
  KFNFRSQTEEERKTPFYPPPLLDWKVTQEKVPWGIVLLLGGGFALAKGSEASGLSVWMGKQMEPLHAVPPAAITL
  ILSLLVAVFTECTSNVATTTLFLPIFASMSRSIGLNPLYIMLPCTLSASFAFMLPVATPPNAIVFTYGHLKVADM
  VKTGVIMNIIGVFCVFLAVNTWGRAIFDLDHFPDWANVTHIET

• Structural information:
  • Interpro: IPR031312  IPR001898  
  • Prosite: PS01271
  • STRING: ENSP00000406220
• Other Databases: GeneCards:  SLC13A5  Malacards:  SLC13A5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015137	citrate transmembrane transporter activity	IDA	molecular function
GO:0015137	citrate transmembrane transporter activity	IDA	molecular function
GO:0015746	citrate transport	IDA	biological process
GO:0015746	citrate transport	IDA	biological process
GO:0015137	citrate transmembrane transporter activity	IBA	molecular function
GO:0016021	integral component of membrane	IBA	cellular component
GO:0017153	sodium:dicarboxylate symporter activity	IBA	molecular function
GO:0098656	anion transmembrane transport	IBA	biological process
GO:0015141	succinate transmembrane transporter activity	IBA	molecular function
GO:0015746	citrate transport	IBA	biological process
GO:0015746	citrate transport	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015137	citrate transmembrane transporter activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015746	citrate transport	IEA	biological process
GO:0015142	tricarboxylic acid transmembrane transporter activity	IEA	molecular function
GO:0015141	succinate transmembrane transporter activity	IEA	molecular function
GO:0006842	tricarboxylic acid transport	IEA	biological process
GO:0015744	succinate transport	IEA	biological process
GO:0015137	citrate transmembrane transporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0071422	succinate transmembrane transport	IEA	biological process
GO:0071422	succinate transmembrane transport	IEA	biological process
GO:0035674	tricarboxylic acid transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Cryptorchidism	MIK: 28606200

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq