SPTLC1 Serine 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. Defects in SPTLC1 are the cause of hereditary sensory and autonomic neuropathy type 1A (HSAN1A). The hereditary sensory and autonomic neuropathies are a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN1A is an autosomal dominant axonal neuropathy with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations. Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC; Lipid Metabolism - sphingolipid; Membrane protein, integral; Transferase
Chromosomal Location of Human Ortholog: 9q22.31
Cellular Component:  endoplasmic reticulum; endoplasmic reticulum membrane; integral component of membrane; serine C-palmitoyltransferase complex; SPOTS complex
Molecular Function:  protein binding; pyridoxal phosphate binding; serine C-palmitoyltransferase activity
Biological Process:  ceramide biosynthetic process; positive regulation of lipophagy; regulation of fat cell apoptotic process; sphinganine biosynthetic process; sphingolipid biosynthetic process; sphingolipid metabolic process; sphingomyelin biosynthetic process; sphingosine biosynthetic process
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Reference #:  O15269 (UniProtKB)
Alt. Names/Synonyms: HSAN; HSAN1; HSN1; LBC1; LCB 1; LCB1; Long chain base biosynthesis protein 1; MGC14645; serine C-palmitoyltransferase; Serine palmitoyltransferase 1; serine palmitoyltransferase, long chain base subunit 1; Serine-palmitoyl-CoA transferase 1; SPT 1; SPT1; SPTC1; SPTI; SPTLC1
Gene Symbols: SPTLC1
Molecular weight: 52,744 Da
Basal Isoelectric point: 5.72  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene