Slc27a4
entrez
26569
canonical
uniprot
Q91VE0
canonical
ensembl
ENSMUSG00000059316
resolver
ensp
ENSMUSP00000078971
resolver
enst
ENSMUST00000080065
resolver
genesymbol
Slc27a4
resolver
genesymbol_syn
Acsvl4
resolver
genesymbol_syn
Fatp4
resolver
uniprot
O88562
resolver
uniprot
Q3TD48
resolver
uniprot_entry
S27A4_MOUSE
resolver
uniprot_sec
O88562
resolver
uniprot_sec
Q3TD48
resolver
amino_acid_sequence
MLLGASLVGALLFSKLVLKLPWTQVGFSLLLLYLGSGGWRFIRVFIKTVRRDIFGGMVLLKVKTKVRRYLQERKTVPLLFASMVQRHPDKTALIFEGTDTHWTFRQLDEYSSSVANFLQARGLASGNVVALFMENRNEFVGLWLGMAKLGVEAALINTNLRRDALRHCLDTSKARALIFGSEMASAICEIHASLEPTLSLFCSGSWEPSTVPVSTEHLDPLLEDAPKHLPSHPDKGFTDKLFYIYTSGTTGLPKAAIVVHSRYYRMASLVYYGFRMRPDDIVYDCLPLYHSAGNIVGIGQCLLHGMTVVIRKKFSASRFWDDCIKYNCTIVQYIGELCRYLLNQPPREAESRHKVRMALGNGLRQSIWTDFSSRFHIPQVAEFYGATECNCSLGNFDSRVGACGFNSRILSFVYPIRLVRVNEDTMELIRGPDGVCIPCQPGQPGQLVGRIIQQDPLRRFDGYLNQGANNKKIANDVFKKGDQAYLTGDVLVMDELGYLYFRDRTGDTFRWKGENVSTTEVEGTLSRLLHMADVAVYGVEVPGTEGRAGMAAVASPISNCDLESFAQTLKKELPLYARPIFLRFLPELHKTGTFKFQKTELRKEGFDPSVVKDPLFYLDARKGCYVALDQEAYTRIQAGEEKL
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Slc27a4 are the cause of wrinkle-free (wrfr) phenotype. It is a spontaneous, autosomal recessive mutation resulting in very tight, thick skin and is secondary characterized by severe breathing difficulties. Mice die shortly after birth. This phenotype is similar to human restrictive dermopathy, a very rare human genetic disorder. {ECO:0000269|PubMed:12697906}.
uniprot
proteins
ec_number
6.2.1.-
uniprot
proteins
ec_number
6.2.1.15
uniprot
proteins
ec_number
6.2.1.3
uniprot
proteins
function
FUNCTION: Mediates the import of long-chain fatty acids (LCFA) into the cell by facilitating their transport across cell membranes (PubMed:10518211, PubMed:20448275). Appears to be the principal fatty acid transporter in small intestinal enterocytes (PubMed:20448275). Also functions as an acyl-CoA ligase catalyzing the ATP-dependent formation of fatty acyl-CoA using LCFA and very-long-chain fatty acids (VLCFA) as substrates, which prevents fatty acid efflux from cells and might drive more fatty acid uptake (By similarity). Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis (PubMed:11404000, PubMed:12821645, PubMed:15653672, PubMed:15699031). Probably involved in fatty acid transport across the blood barrier (By similarity). Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones (PubMed:23407971). {ECO:0000250|UniProtKB:Q6P1M0, ECO:0000269|PubMed:10518211, ECO:0000269|PubMed:11404000, ECO:0000269|PubMed:12821645, ECO:0000269|PubMed:15653672, ECO:0000269|PubMed:15699031, ECO:0000269|PubMed:20448275, ECO:0000269|PubMed:23407971}.
uniprot
proteins
mass_dalton
72319
uniprot
proteins
protein_family
ATP-dependent AMP-binding enzyme family
uniprot
proteins
pubmed
10518211
uniprot
proteins
pubmed
11404000
uniprot
proteins
pubmed
12697906
uniprot
proteins
pubmed
12821645
uniprot
proteins
pubmed
14512415
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15653672
uniprot
proteins
pubmed
15699031
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
16452087
uniprot
proteins
pubmed
20448275
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
23407971
uniprot
proteins
pubmed
9671728
uniprot
proteins
sequence_length
643
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23407971}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 20..42; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 139..156; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins