MGP Database

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MGP003933

UniProt Annotations

Entry Information
Gene Nameserine palmitoyltransferase, long chain base subunit 2
Protein EntrySPTC2_HUMAN
UniProt IDO15270
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityPalmitoyl-CoA + L-serine = CoA + 3-dehydro-D- sphinganine + CO(2). {ECO:0000269|PubMed:19416851}.
CofactorName=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326; Evidence={ECO:0000250};
DiseaseNeuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness. {ECO:0000269|PubMed:20920666, ECO:0000269|PubMed:23658386}. Note=The disease is caused by mutations affecting the gene represented in this entry. SPTLC2 disease mutations cause a shift in the substrate specificity of SPT resulting in the alternative use of L-alanine and L-glycine over its canonical substrate L-serine. This leads to the production of 1-deoxysphingolipids that cannot be correctly metabolized (PubMed:23658386). {ECO:0000269|PubMed:23658386}.
FunctionSerine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 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-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate. {ECO:0000269|PubMed:19416851, ECO:0000269|PubMed:20920666}.
PathwayLipid metabolism; sphingolipid metabolism.
Sequence CautionSequence=BAA25452.2; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.
SubunitHeterodimer with SPTLC1. Component of the serine palmitoyltransferase (SPT) complex, composed of LCB1/SPTLC1, LCB2 (SPTLC2 or SPTLC3) and ssPT (SPTSSA and SPTSSB). {ECO:0000269|PubMed:19416851}.
Tissue SpecificityWidely expressed. {ECO:0000269|PubMed:17023427}.
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