UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:FATP4
HGNC Symbol:SLC27A4
HGNC Description:solute carrier family 27 (fatty acid transporter), member 4
HGNC ID:10998
Superfamily:SLC
Chromosome:Chr.9(+): 131102839-131123749 GRCh37
Location:9q34.11
OMIM:604194
OMIM Phenotype:None
Accessions:NM_005094
Nucleotide RefSeq:NM_005094
Protein RefSeq:NP_005085
Entrez:10999
Ensembl:ENSG00000167114
Isoforms:2
Evidence:Substrate In Vitro Evidence: 1. Overexpression of FATP4 in HEK293 cells facilitates the uptake of long chain fatty acids with the same specificity as enterocytes, while reduction of FATP4 expression in primary enterocytes by antisense oligonucleotides inhibits fatty acid uptake by 50%. This suggests that FATP4 is the principal fatty acid transporter in enterocytes. Stahl, A et al. Mol Cell 1999 Sep, 4(3):299-308 PMID 10518211. 2. Transfection of mFATP4 into COS1 cells resulted in a 2-fold increase in palmitoyl-CoA synthetase and a 5-fold increase in lignoceroyl-CoA synthetase activity from membrane extracts. This indicates that the mFATP4 gene encodes an acyl-CoA synthetase with substrate specificity biased towards very long chain fatty acids. Hermann, T et al. Gene 2001 May 30, 270(1-2):31-40 PMID 11404000. Substrate In Vivo Evidence: 1. Murine FATP4 plays a critical role in skin and hair development. A mutation in mouse Slc27a4 leads to a lethal autosomal recessive mouse mutation resulting in very tight, thick skin similar to a very rare human genetic disorder, restrictive dermopathy. SLC27A4 is a candidate gene for restrictive dermopathy. Moulson, CL et al. PNAS 2003 Apr 29, 100(9):5274-9 PMID 12697906. Tissue Distribution Evidence: 1. FATP4 is expressed at high levels on the apical side of mature enterocytes in the small intestine. Stahl, A et al. Mol Cell 1999 Sep, 4(3):299-308 PMID 10518211. 2. Northern analysis showed that mFATP4 mRNA was expressed most abundantly in small intestine, brain, kidney, liver, skin, and heart. Hermann, T et al. Gene 2001 May 30, 270(1-2):31-40 PMID 11404000.
Tissues:small intestine
Type:protein-coding
Sets:V
PharmGKB ID:PA35872
HPRD ID:09172
Substrates:very long chain fatty acids
Trivial Names:IPS, FATP4, ACSVL4
Transcripts:NM_005094.3 [Chr.9(+): 131102839-131123749 GRCh37]
XM_005251672.1 [Chr.9(+): 131104557-131123502 GRCh37]
ENST00000300456 [Chr.9(+): 131103007-131123749 GRCh37]
ENST00000372870 [Chr.9(+): 131102925-131123496 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 SLC27A4.

Variant Data

View all PMT variants for SLC27A4 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: TOPO2 image is not available.