SLC27A1 (solute carrier family 27 member 1)

2014-11-01  

Identity

HGNC
LOCATION
19p13.11
LOCUSID
ALIAS
ACSVL5,FATP,FATP-1,FATP1
FUSION GENES

Other Information

Locus ID:

NCBI: 376497
MIM: 600691
HGNC: 10995
Ensembl: ENSG00000130304

Variants:

dbSNP: 376497
ClinVar: 376497
TCGA: ENSG00000130304
COSMIC: SLC27A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130304ENST00000252595Q6PCB7
ENSG00000130304ENST00000598424Q6PCB7
ENSG00000130304ENST00000599380M0QXY2
ENSG00000130304ENST00000599965M0QZC9
ENSG00000130304ENST00000600277B7Z225
ENSG00000130304ENST00000600297B7Z225

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
PPAR signaling pathwayKEGGko03320
PPAR signaling pathwayKEGGhsa03320
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of vitamins, nucleosides, and related moleculesREACTOMER-HSA-425397
Transport of fatty acidsREACTOMER-HSA-804914
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781
Insulin resistanceKEGGhsa04931

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
204160772010Identification of type 2 diabetes-associated combination of SNPs using support vector machine.26
158973212005Impact on fatty acid metabolism and differential localization of FATP1 and FAT/CD36 proteins delivered in cultured human muscle cells.20
241205742014Fatty acid transporters in skin development, function and disease.17
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
159788562005Lack of association between certain candidate gene polymorphisms and the metabolic syndrome.9
128184092003A common polymorphism in the fatty acid transport protein-1 gene associated with elevated post-prandial lipaemia and alterations in LDL particle size distribution.8
128184092003A common polymorphism in the fatty acid transport protein-1 gene associated with elevated post-prandial lipaemia and alterations in LDL particle size distribution.8
203568432010FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and lecithin:retinol acyltransferase.8

Citation

Dessen P

SLC27A1 (solute carrier family 27 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73378/slc27a1