SLC27A4
entrez
10999
canonical
uniprot
Q6P1M0
canonical
ensembl
ENSG00000167114
resolver
ensp
ENSP00000300456
resolver
genesymbol
SLC27A4
resolver
genesymbol_syn
ACSVL4
resolver
genesymbol_syn
FATP4
resolver
hgnc
HGNC:10998
resolver
uniprot
A8K2F7
resolver
uniprot
O95186
resolver
uniprot
Q96G53
resolver
uniprot_entry
S27A4_HUMAN
resolver
uniprot_sec
A8K2F7
resolver
uniprot_sec
O95186
resolver
uniprot_sec
Q96G53
resolver
amino_acid_sequence
MLLGASLVGVLLFSKLVLKLPWTQVGFSLLFLYLGSGGWRFIRVFIKTIRRDIFGGLVLLKVKAKVRQCLQERRTVPILFASTVRRHPDKTALIFEGTDTHWTFRQLDEYSSSVANFLQARGLASGDVAAIFMENRNEFVGLWLGMAKLGVEAALINTNLRRDALLHCLTTSRARALVFGSEMASAICEVHASLDPSLSLFCSGSWEPGAVPPSTEHLDPLLKDAPKHLPSCPDKGFTDKLFYIYTSGTTGLPKAAIVVHSRYYRMAALVYYGFRMRPNDIVYDCLPLYHSAGNIVGIGQCLLHGMTVVIRKKFSASRFWDDCIKYNCTIVQYIGELCRYLLNQPPREAENQHQVRMALGNGLRQSIWTNFSSRFHIPQVAEFYGATECNCSLGNFDSQVGACGFNSRILSFVYPIRLVRVNEDTMELIRGPDGVCIPCQPGEPGQLVGRIIQKDPLRRFDGYLNQGANNKKIAKDVFKKGDQAYLTGDVLVMDELGYLYFRDRTGDTFRWKGENVSTTEVEGTLSRLLDMADVAVYGVEVPGTEGRAGMAAVASPTGNCDLERFAQVLEKELPLYARPIFLRLLPELHKTGTYKFQKTELRKEGFDPAIVKDPLFYLDAQKGRYVPLDQEAYSRIQAGEEKL
uniprot
proteins
disease_involvement
DISEASE: Ichthyosis prematurity syndrome (IPS) [MIM:608649]: A keratinization disorder characterized by complications in the second trimester of pregnancy resulting from polyhydramnion, with premature birth of a child with thick caseous desquamating epidermis, respiratory complications and transient eosinophilia. After recovery during the first months of life, the symptoms are relatively benign and the patients suffer from a lifelong non-scaly ichthyosis with atopic manifestations. {ECO:0000269|PubMed:19631310, ECO:0000269|PubMed:20815031}. Note=The disease is caused by variants affecting the gene represented in this entry.
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 levels of long-chain fatty acids (LCFA) in the cell by facilitating their transport across cell membranes (PubMed:10518211, PubMed:12556534, PubMed:20448275, PubMed:21395585, PubMed:22022213). 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 (PubMed:22022213, PubMed:24269233). Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis (By similarity). Probably involved in fatty acid transport across the blood barrier (PubMed:21395585). Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones (By similarity). {ECO:0000250|UniProtKB:Q91VE0, ECO:0000269|PubMed:10518211, ECO:0000269|PubMed:12556534, ECO:0000269|PubMed:20448275, ECO:0000269|PubMed:21395585, ECO:0000269|PubMed:22022213, ECO:0000269|PubMed:24269233}.
uniprot
proteins
mass_dalton
72064
uniprot
proteins
protein_family
ATP-dependent AMP-binding enzyme family
uniprot
proteins
pubmed
10518211
uniprot
proteins
pubmed
12556534
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14715877
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19631310
uniprot
proteins
pubmed
20448275
uniprot
proteins
pubmed
20815031
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21395585
uniprot
proteins
pubmed
22022213
uniprot
proteins
pubmed
24269233
uniprot
proteins
pubmed
9878842
uniprot
proteins
sequence_length
643
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:22022213, ECO:0000305|PubMed:24269233}; 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