Description: Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA. RefSeq Summary (NM_014031): This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr5:128,301,210-128,369,335 Size: 68,126 Total Exon Count: 11 Strand: + Coding Region Position: hg19 chr5:128,301,831-128,368,975 Size: 67,145 Coding Exon Count: 10
ID:S27A6_HUMAN DESCRIPTION: RecName: Full=Long-chain fatty acid transport protein 6; Short=FATP-6; Short=Fatty acid transport protein 6; AltName: Full=Fatty-acid-coenzyme A ligase, very long-chain 2; AltName: Full=Solute carrier family 27 member 6; AltName: Full=Very long-chain acyl-CoA synthetase homolog 1; Short=VLCSH1; Short=hVLCS-H1; FUNCTION: Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Thought to function as the predominant fatty acid protein transporter in heart. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). Cell membrane, sarcolemma (By similarity). Note=In heart is exclusively located on the sarcolemma in areas juxtaposed with small blood vessels where it colocalizes CD36 (By similarity). TISSUE SPECIFICITY: Strongly expressed in heart and localizes to cardiac myocytes. Expressed at moderate levels in placenta, testis, and adrenal glands. Expressed at very low levels in kidney, bladder and uterus. SIMILARITY: Belongs to the ATP-dependent AMP-binding enzyme family.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): SLC27A6 CDC HuGE Published Literature: SLC27A6 Positive Disease Associations: Respiratory Function Tests Related Studies:
Respiratory Function Tests Jemma B Wilk et al. BMC medical genetics 2007, Framingham Heart Study genome-wide association: results for pulmonary function measures., BMC medical genetics.
[PubMed 17903307]
GSTO2 and IL6R are credible candidate genes for association to pulmonary function identified by GWA. These and other observed associations warrant replication studies. This resource of GWA results for pulmonary function measures is publicly available at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite.
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.
ModBase Predicted Comparative 3D Structure on Q9Y2P4
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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.
Biological Process: GO:0000038 very long-chain fatty acid metabolic process GO:0001676 long-chain fatty acid metabolic process GO:0006629 lipid metabolic process GO:0006631 fatty acid metabolic process GO:0006869 lipid transport GO:0008152 metabolic process GO:0015908 fatty acid transport GO:0015909 long-chain fatty acid transport
BC041945 - Homo sapiens solute carrier family 27 (fatty acid transporter), member 6, mRNA (cDNA clone MGC:44620 IMAGE:5301306), complete cds. BX537383 - Homo sapiens mRNA; cDNA DKFZp779M0564 (from clone DKFZp779M0564); complete cds. AK313456 - Homo sapiens cDNA, FLJ94000, highly similar to Homo sapiens solute carrier family 27 (fatty acid transporter),member 6 (SLC27A6), mRNA. AL833117 - Homo sapiens mRNA; cDNA DKFZp313A1532 (from clone DKFZp313A1532). AF064254 - Homo sapiens very long-chain acyl-CoA synthetase homolog 1 mRNA, complete cds. CU692048 - Synthetic construct Homo sapiens gateway clone IMAGE:100020957 5' read SLC27A6 mRNA. KJ898701 - Synthetic construct Homo sapiens clone ccsbBroadEn_08095 SLC27A6 gene, encodes complete protein. CR457129 - Homo sapiens full open reading frame cDNA clone RZPDo834H1114D for gene SLC27A6, solute carrier family 27 (fatty acid transporter), member 6; complete cds, incl. stopcodon. JD520820 - Sequence 501844 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03320 - PPAR signaling pathway
BioCyc Knowledge Library FAO-PWY - fatty acid β-oxidation I PWY-5136 - fatty acid β-oxidation II (core pathway)
Reactome (by CSHL, EBI, and GO)
Protein Q9Y2P4 (Reactome details) participates in the following event(s):
R-HSA-879585 SLC27A1,4,6 transport LCFAs from extracellular region to cytosol R-HSA-804914 Transport of fatty acids R-HSA-425397 Transport of vitamins, nucleosides, and related molecules R-HSA-425407 SLC-mediated transmembrane transport R-HSA-382551 Transport of small molecules
US Server
