LMPD Database

LMP006294

UniProt Annotations

Entry Information
Gene Namesolute carrier family 27 (fatty acid transporter), member 4
Protein EntryS27A4_HUMAN
UniProt IDQ6P1M0
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6P1M0-1; Sequence=Displayed; Name=2; IsoId=Q6P1M0-2; Sequence=VSP_055808, VSP_055809; Note=No experimental confirmation available.;
DiseaseIchthyosis prematurity syndrome (IPS) [MIM
FunctionInvolved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Appears to be the principal fatty acid transporter in small intestinal enterocytes. Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis. Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids (VLCFAs). 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).
MiscellaneousSLC27A4/FATP4-mediated fatty acid uptake is associated to paramaters related to insulin resistance, which is associated with disturbed fatty acid metabolism and homeostasis, such as obesity. SLC27A4/FATP4 expression is positively correlated with acquired obesity.
Sequence CautionSequence=AAD11623.1; Type=Frameshift; Positions=362, 387, 612, 619; Evidence= ;
SimilarityBelongs to the ATP-dependent AMP-binding enzyme family.
Subcellular LocationMembrane ; Multi-pass membrane protein . Endoplasmic reticulum membrane .
Tissue SpecificityExpressed at highest levels in brain, testis, colon and kidney. Expressed at medium levels in heart and liver, small intestine and stomach. Expressed at low levels in peripheral leukocytes, bone marrow, skeletal muscle and aorta. Expressed in adipose tissue.