Version 5.4
Homo sapiens Gene: SLC22A5
Summary
InnateDB Gene IDBG-41977.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC22A5
Gene Name solute carrier family 22 (organic cation/carnitine transporter), member 5
Synonyms CDSP; OCTN2; OCTN2VT
Species Homo sapiens
Ensembl Gene ENSG00000197375
Encoded Proteins
IDBP-41981
solute carrier family 22 (organic cation/carnitine transporter), member 5
IDBP-376256
solute carrier family 22 (organic cation/carnitine transporter), member 5
IDBP-376258
solute carrier family 22 (organic cation/carnitine transporter), member 5
IDBP-376261
solute carrier family 22 (organic cation/carnitine transporter), member 5
IDBP-376268
solute carrier family 22 (organic cation/carnitine transporter), member 5
IDBP-376269
solute carrier family 22 (organic cation/carnitine transporter), member 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:132369752-132395614
Strand Forward strand
Band q31.1
Transcripts
ENST00000245407 ENSP00000245407
ENST00000435065 ENSP00000402760
ENST00000437841 ENSP00000400553
ENST00000415928 ENSP00000388838
ENST00000448810 ENSP00000401860
ENST00000447841 ENSP00000389284
ENST00000461013
ENST00000479605
ENST00000475308
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0015075 ion transmembrane transporter activity
GO:0015226 carnitine transmembrane transporter activity
GO:0015238 drug transmembrane transporter activity
GO:0015293 symporter activity
GO:0015651 quaternary ammonium group transmembrane transporter activity
GO:0022857 transmembrane transporter activity
GO:0030165 PDZ domain binding
GO:0042895 antibiotic transporter activity
Biological Process
GO:0006814 sodium ion transport
GO:0006855 drug transmembrane transport
GO:0015697 quaternary ammonium group transport
GO:0015879 carnitine transport
GO:0015893 drug transport
GO:0034220 ion transmembrane transport
GO:0042891 antibiotic transport
GO:0052106 quorum sensing involved in interaction with host
GO:0055085 transmembrane transport
GO:0060731 positive regulation of intestinal epithelial structure maintenance
GO:0070715 sodium-dependent organic cation transport
GO:1902603 carnitine transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0031526 brush border membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000018900
View Gene Order
ENSBTAG00000000668
Not yet available
Pathways
NETPATH
REACTOME
REACT_22357
Organic cation transport pathway
REACT_19305
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_22345
Organic cation/anion/zwitterion transport pathway
REACT_19118
SLC-mediated transmembrane transport pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.443572 Hs.715966
RefSeq NM_003060 XM_006714676
HUGO
OMIM
CCDS CCDS4154
HPRD 04539
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca