Description: Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA. RefSeq Summary (NM_003060): 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. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]. Transcript (Including UTRs) Position: hg19 chr5:131,705,401-131,731,306 Size: 25,906 Total Exon Count: 11 Strand: + Coding Region Position: hg19 chr5:131,705,665-131,729,964 Size: 24,300 Coding Exon Count: 11
Asthma Miriam F Moffatt et al. The New England journal of medicine 2010, A large-scale, consortium-based genomewide association study of asthma., The New England journal of medicine.
[PubMed 20860503]
Asthma is genetically heterogeneous. A few common alleles are associated with disease risk at all ages. Implicated genes suggest a role for communication of epithelial damage to the adaptive immune system and activation of airway inflammation. Variants at the ORMDL3/GSDMB locus are associated only with childhood-onset disease. Elevation of total serum IgE levels has a minor role in the development of asthma. (Funded by the European Commission and others.)
Crohn Disease Paul R Burton et al. Nature 2007, Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls., Nature.
[PubMed 17554300]
Crohn's disease Peltekova VD 2004, Functional variants of OCTN cation transporter genes are associated with Crohn disease, Nature genetics. 2004 May;36(5):471-5.
[PubMed 15107849]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 103473 - MFS general substrate transporter
ModBase Predicted Comparative 3D Structure on O76082-3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AF057164 - Homo sapiens organic cation transporter OCTN2 (OCTN2) mRNA, complete cds. BC012325 - Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5, mRNA (cDNA clone MGC:20139 IMAGE:4548603), complete cds. AB015050 - Homo sapiens mRNA for OCTN2, complete cds. AK313230 - Homo sapiens cDNA, FLJ93734, Homo sapiens solute carrier family 22 (organic cation transporter),member 5 (SLC22A5), mRNA. KJ897580 - Synthetic construct Homo sapiens clone ccsbBroadEn_06974 SLC22A5 gene, encodes complete protein. KR710445 - Synthetic construct Homo sapiens clone CCSBHm_00012725 SLC22A5 (SLC22A5) mRNA, encodes complete protein. DQ895818 - Synthetic construct Homo sapiens clone IMAGE:100010278; FLH187947.01L; RZPDo839E11149D solute carrier family 22 (organic cation transporter), member 5 (SLC22A5) gene, encodes complete protein. DQ893671 - Synthetic construct clone IMAGE:100006301; FLH187951.01X; RZPDo839E11150D solute carrier family 22 (organic cation transporter), member 5 (SLC22A5) gene, encodes complete protein. AB291606 - Homo sapiens OCTN2VT mRNA for organic cation transporter 2 splice variant, complete cds. AB209484 - Homo sapiens mRNA for solute carrier family 22 member 5 variant protein. AY429569 - Homo sapiens SLC22A5v_2 mRNA sequence; alternatively spliced. AK128610 - Homo sapiens cDNA FLJ46769 fis, clone TRACH3025346, highly similar to Organic cation/carnitine transporter 2. JD461559 - Sequence 442583 from Patent EP1572962. JD237302 - Sequence 218326 from Patent EP1572962. JD406434 - Sequence 387458 from Patent EP1572962. JD407364 - Sequence 388388 from Patent EP1572962. JD075883 - Sequence 56907 from Patent EP1572962. JD129538 - Sequence 110562 from Patent EP1572962. CU680286 - Synthetic construct Homo sapiens gateway clone IMAGE:100019864 5' read SLC22A5 mRNA. JD139236 - Sequence 120260 from Patent EP1572962. JD273342 - Sequence 254366 from Patent EP1572962. JD323478 - Sequence 304502 from Patent EP1572962. JD061790 - Sequence 42814 from Patent EP1572962. JD080879 - Sequence 61903 from Patent EP1572962. JD158081 - Sequence 139105 from Patent EP1572962. JD263621 - Sequence 244645 from Patent EP1572962. JD513309 - Sequence 494333 from Patent EP1572962. JD202961 - Sequence 183985 from Patent EP1572962. JD301683 - Sequence 282707 from Patent EP1572962. JD114022 - Sequence 95046 from Patent EP1572962. JD233465 - Sequence 214489 from Patent EP1572962. JD552422 - Sequence 533446 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein O76082 (Reactome details) participates in the following event(s):
R-HSA-165026 OCTN2 / SLC22A5 transports CAR from extracellular space to cytosol R-HSA-549297 SLC22A4, 5,15,16 cotransport CAR, Na+ from extracellular region to cytosol R-HSA-200425 Import of palmitoyl-CoA into the mitochondrial matrix R-HSA-549127 Organic cation transport R-HSA-8978868 Fatty acid metabolism R-HSA-549132 Organic cation/anion/zwitterion transport R-HSA-556833 Metabolism of lipids R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds R-HSA-1430728 Metabolism R-HSA-425407 SLC-mediated transmembrane transport R-HSA-382551 Transport of small molecules