UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:FATP5
HGNC Symbol:SLC27A5
HGNC Description:solute carrier family 27 (fatty acid transporter), member 5
HGNC ID:10999
Superfamily:SLC
Chromosome:Chr.19(-): 59009700-59023432 GRCh37
Location:19q13.43
OMIM:603314
OMIM Phenotype:None
Accessions:NM_012254
Nucleotide RefSeq:NM_012254
Protein RefSeq:NP_036386
Entrez:10998
Ensembl:ENSG00000083807
Isoforms:3
Evidence:Substrate In Vitro Evidence: 1. COS-1 cells transiently overexpressing VLCSH2 activated the very-long-chain fatty acid lignocerate at a rate 1.5x non-transfected cells. VLCSH2-dependent acyl-CoA synthetase activity with LCFAs and VLCFAs was detected in COS-1 cells stably expressing VLCSH2. Steinberg, SJ et al. Mol Genet Metab. 1999 Sept, 68(1):32-42 PMID 10479480. 2. When expressed in COS-1 cells, VLCSH2 exhibited cholate:CoA ligase (choloyl-CoA synthetase) activity. Endogenous choloyl-CoA synthetase activity was detected in HepG2 cells (liver) but not COS-1 cells (kidney). VLCSH2 may play a role in the reactivation and reconjugation of bile acids entering the liver from the enterohepatic circulation rather than in de novo bile acid synthesis. Steinberg, SJ et al. JBC 2000 May 26, 275(21):15605-8. Tissue Distribution Evidence: 1. Both Northern analysis and RT-PCR showed that VLCSH2 is primarily expressed in liver. Indirect immunofluorescence of COS-1 or HepG2 cells expressing epitope-tagged VLCS demonstrated that the protein was associated with the ER but not peroxisomes. The primary role of VLCSH2 is likely in fatty acid elongation or complex lipid synthesis rather than in degradation. Steinberg, SJ et al. Mol Genet Metab. 1999 Sept, 68(1):32-42 PMID 10479480.
Tissues:liver
Type:protein-coding
Sets:V
PharmGKB ID:PA35873
HPRD ID:04499
Substrates:very long chain fatty acids
Trivial Names:BAL, ACSB, BACS, FATP5, ACSVL6, FACVL3, FATP-5, VLACSR, VLCSH2, VLCS-H2
Transcripts:NM_012254.2 [Chr.19(-): 59009700-59023432 GRCh37]
XM_005258437.1 [Chr.19(-): 59009700-59023359 GRCh37]
XM_005258438.1 [Chr.19(-): 59012083-59023361 GRCh37]
ENST00000263093 [Chr.19(-): 59009704-59023432 GRCh37]
ENST00000593745 [Chr.19(-): 59018749-59023780 GRCh37]
ENST00000594683 [Chr.19(-): 59011961-59021539 GRCh37]
ENST00000594786 [Chr.19(-): 59009700-59010642 GRCh37]
ENST00000595851 [Chr.19(-): 58990879-59010630 GRCh37]
ENST00000599700 [Chr.19(-): 59009704-59010608 GRCh37]
ENST00000601355 [Chr.19(-): 59009753-59023359 GRCh37]
ENST00000601997 [Chr.19(-): 59009842-59010509 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 SLC27A5.

Variant Data

View all PMT variants for SLC27A5 on UCSC Genome Browser
Showing SNP features for transcript:   
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.