serine palmitoyltransferase 1; long chain base biosynthesis protein 1; LCB 1; serine-palmitoyl-CoA transferase 1; SPT 1; SPT1 (SPTLC1, LCB1)

Function

• component of the serine palmitoyltransferase complex
• the heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core
• the composition of the serine palmitoyltransferase 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 & 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
• lipid metabolism; sphingolipid metabolism
• heterodimer with SPTLC2 or SPTLC3
• interacts directly with SPTSSA & SPTSSB
• interacts with ORMDL3

Cofactor:

• pyridoxal phosphate (putative)

Structure

• belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family

Compartment

• endoplasmic reticulum membrane
• single-pass membrane protein (putative)

Expression

• widely expressed
• not detected in small intestine

Pathology

• defects in SPTLC1 are the cause of hereditary sensory & autonomic neuropathy type 1A

More general terms

• protein subunit
• membrane protein

Component of

• serine palmitoyltransferase (SPT) complex

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=10558
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:10558
• OMIM: https://mirror.omim.org/entry/162400
• OMIM: https://mirror.omim.org/entry/605712
• UniProt: http://www.uniprot.org/uniprot/O15269.html