LMPD Database

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LMP001176

UniProt Annotations

Entry Information
Gene Nameserine palmitoyltransferase, long chain base subunit 1
Protein EntrySPTC1_HUMAN
UniProt IDO15269
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O15269-1; Sequence=Displayed; Name=2; IsoId=O15269-2; Sequence=VSP_043127, VSP_043128; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=0.75 mM for serine ; Vmax=1350 pmol/min/mg enzyme ;
Catalytic ActivityPalmitoyl-CoA + L-serine = CoA + 3-dehydro-D- sphinganine + CO(2).
CautionVariant Ala-387 has been originally thought to cause HSAN1A (PubMed:15037712). Subsequently, it has been shown to be a rare, benign polymorphism found in homozygous state in a healthy individual (PubMed:19132419). {ECO
CofactorName=pyridoxal 5'-phosphate; Xref=ChEBI
DiseaseNeuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM
FunctionSerine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1- SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference.
PathwayLipid metabolism; sphingolipid metabolism.
PtmPhosphorylation at Tyr-164 inhibits activity and promotes cell survival.
SimilarityBelongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
Subcellular LocationEndoplasmic reticulum membrane {ECO
SubunitHeterodimer with SPTLC2 or SPTLC3. Component of the serine palmitoyltransferase (SPT) complex, composed of SPTLC1, either SPTLC2 or SPTLC3, and either SPTSSA or SPTSSB. Interacts with SPTSSA and SPTSSB; the interaction is direct. Interacts with ORMDL3. {ECO
Tissue SpecificityWidely expressed. Not detected in small intestine.