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Gene Ontology Classifications
Symbol
Name
ID
Slc22a5
solute carrier family 22 (organic cation transporter), member 5
MGI:1329012

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Slc22a5. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of January 2, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. [provided by RefSeq, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Hashimoto N et al. (1998) Gene-dose effect on carnitine transport activity in embryonic fibroblasts of JVS mice as a model of human carnitine transporter deficiency. Biochem Pharmacol, 55:1729-32. (PubMed:9634010)
  2. Horiuchi M et al. (1993) Cardiac hypertrophy in juvenile visceral steatosis (jvs) mice with systemic carnitine deficiency. FEBS Lett, 326:267-71. (PubMed:8325377)
  3. Horiuchi M et al. (1994) Primary defect of juvenile visceral steatosis (jvs) mouse with systemic carnitine deficiency is probably in renal carnitine transport system. Biochim Biophys Acta, 1226:25-30. (PubMed:8155735)
  4. Kato Y et al. (2005) PDZK1 directly regulates the function of organic cation/carnitine transporter OCTN2. Mol Pharmacol, 67:734-43. (PubMed:15523054)
  5. Kuwajima M et al. (1991) Animal model of systemic carnitine deficiency: analysis in CC3H-H-2 degrees strain of mouse associated with juvenile visceral steatosis. Biochem Biophys Res Commun, 174:1090-4. (PubMed:1996978)
  6. Kuwajima M et al. (1996) Carnitine transport defect in fibroblasts of juvenile visceral steatosis (JVS) mouse. Biochem Biophys Res Commun, 223:283-7. (PubMed:8670273)
  7. Li MX et al. (2006) Prolonged effect of single carnitine administration on fasted carnitine-deficient JVS mice regarding their locomotor activity and energy expenditure. Biochim Biophys Acta, 1761:1191-9. (PubMed:17027329)
  8. Miyagawa J et al. (1995) Mitochondrial abnormalities of muscle tissue in mice with juvenile visceral steatosis associated with systemic carnitine deficiency. Virchows Arch, 426:271-9. (PubMed:7773507)
  9. Nezu J et al. (1999) Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet, 21:91-4. (PubMed:9916797)
  10. Shekhawat PS et al. (2004) Carnitine content and expression of mitochondrial beta-oxidation enzymes in placentas of wild-type (OCTN2(+/+)) and OCTN2 Null (OCTN2(-/-)) Mice. Pediatr Res, 56:323-8. (PubMed:15240869)
  11. Tamai I et al. (2000) Molecular and functional characterization of organic Cation/Carnitine transporter family in mice J Biol Chem, 275:40064-72. (PubMed:11010964)
  12. Tomomura M et al. (1994) Abnormal gene expression and regulation in the liver of jvs mice with systemic carnitine deficiency. Biochim Biophys Acta, 1226:307-14. (PubMed:7914432)
  13. Toshimori K et al. (1999) Dysfunctions of the epididymis as a result of primary carnitine deficiency in juvenile visceral steatosis mice. FEBS Lett, 446:323-6. (PubMed:10100867)
  14. Yokogawa K et al. (1999) Decreased tissue distribution of L-carnitine in juvenile visceral steatosis mice. J Pharmacol Exp Ther, 289:224-30. (PubMed:10087008)
  15. Yokogawa K et al. (1999) Loss of wild-type carrier-mediated L-carnitine transport activity in hepatocytes of juvenile visceral steatosis mice. Hepatology, 30:997-1001. (PubMed:10498652)
  16. Yoshimine K et al. (1997) Altered expression of atrial natriuretic peptide and contractile protein genes in hypertrophied ventricle of JVS mice with systemic carnitine deficiency. J Mol Cell Cardiol, 29:571-8. (PubMed:9140816)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory