Aliases for SPTLC1 Gene
External Ids for SPTLC1 Gene
Previous HGNC Symbols for SPTLC1 Gene
Previous GeneCards Identifiers for SPTLC1 Gene
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]
GeneCards Summary for SPTLC1 Gene
SPTLC1 (Serine Palmitoyltransferase, Long Chain Base Subunit 1) is a Protein Coding gene. Diseases associated with SPTLC1 include neuropathy, hereditary sensory and autonomic, type ia and dnmt1-related dementia, deafness, and sensory neuropathy. Among its related pathways are Metabolism and Sphingolipid metabolism. GO annotations related to this gene include pyridoxal phosphate binding and serine C-palmitoyltransferase activity.
UniProtKB/Swiss-Prot for SPTLC1 Gene
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.