UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:FATP
HGNC Symbol:SLC27A1
HGNC Description:solute carrier family 27 (fatty acid transporter), member 1
HGNC ID:10995
Superfamily:SLC
Chromosome:Chr.19(+): 17581300-17616977 GRCh37
Location:19p13.11
OMIM:600691
OMIM Phenotype:None
Accessions:NM_198580
Nucleotide RefSeq:NM_198580
Protein RefSeq:NP_940982
Entrez:376497
Ensembl:ENSG00000130304
Isoforms:1
Evidence:Substrate In Vitro Evidence: There are no data currently available on the functional characteristics or substrate selectivity of the human SLC27A1. The mouse ortholog, Slc27a1, has been shown to be an integral membrane protein whose expression correlates with saturable uptake of long chain fatty acids, and it is therefore thought to function as a LCFA transport protein (Schaffer JE, Lodish HF. Expression cloning and characterization of a novel adipocyte long chain fatty acid transport protein. Cell 79:427-436, 1994). Tissue Distribution Evidence: Northern blot analysis showed highest expression of hFATP1 in skeletal muscle and heart, moderate expression in pancreas and brain, and low levels in placenta, lung, and liver (Martin G, Nemoto M, Gelman L, Geffroy S, Najib J, Fruchart JC, Roevens P, de Martinville B, Deeb S, Auwerx J. The human fatty acid transport protein-1 (SLC27A1; FATP-1) cDNA and gene: organization, chromosomal localization, and expression. Genomics 66(3): 296-304, 2000).
Tissues:Skeletal muscle, heart (high); pancreas, brain (moderate); placenta, lung, liver (low)
Type:protein-coding
Sets:V
PharmGKB ID:PA35869
HPRD ID:11863
Substrates:Mice: long-chain fatty acids
Trivial Names:FATP, FATP1, ACSVL5
Transcripts:NM_198580.1 [Chr.19(+): 17581300-17616977 GRCh37]
ENST00000252595 [Chr.19(+): 17581253-17616977 GRCh37]
ENST00000442725 [Chr.19(+): 17579578-17615421 GRCh37]
ENST00000593701 [Chr.19(+): 17599569-17611364 GRCh37]
ENST00000594962 [Chr.19(+): 17606224-17616977 GRCh37]
ENST00000598424 [Chr.19(+): 17581298-17615795 GRCh37]
ENST00000598848 [Chr.19(+): 17610679-17615410 GRCh37]
ENST00000599380 [Chr.19(+): 17581337-17610207 GRCh37]
ENST00000599965 [Chr.19(+): 17611175-17615709 GRCh37]
ENST00000600277 [Chr.19(+): 17579578-17608123 GRCh37]
ENST00000600297 [Chr.19(+): 17581347-17599874 GRCh37]

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC27A1.

Variant Data

View all PMT variants for SLC27A1 on UCSC Genome Browser
Showing SNP features for transcript: NM_198580  
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.