AAH07085.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
16,073 Da
NCBI Official Full Name
Serine palmitoyltransferase, long chain base subunit 1
NCBI Official Synonym Full Names
serine palmitoyltransferase long chain base subunit 1
NCBI Official Synonym Symbols
HSN1; LBC1; LCB1; SPT1; SPTI; HSAN1 [Similar Products]
NCBI Protein Information
serine palmitoyltransferase 1
UniProt Protein Name
Serine palmitoyltransferase 1
UniProt Synonym Protein Names
Long chain base biosynthesis protein 1; LCB 1; Serine-palmitoyl-CoA transferase 1; SPT 1; SPT1
UniProt Synonym Gene Names
NCBI Summary for SPTLC1
This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]
UniProt Comments for SPTLC1
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.
Protein type: EC 2.3.1.50; 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
Molecular Function: protein binding; pyridoxal phosphate binding; serine C-palmitoyltransferase activity
Biological Process: ceramide biosynthetic process; positive regulation of lipophagy; sphinganine biosynthetic process; sphingolipid biosynthetic process; sphingolipid metabolic process; sphingomyelin biosynthetic process; sphingosine biosynthetic process
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Research Articles on SPTLC1
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Products associated with anti-SPTLC1 antibody
Pathways associated with anti-SPTLC1 antibody
Diseases associated with anti-SPTLC1 antibody
Organs/Tissues associated with anti-SPTLC1 antibody
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