SPTLC1
SPTLC1 (serine palmitoyltransferase long chain base subunit 1, also known as LCB1, SPTI, HSAN1, hLCB1 and HSN1) is a subunit of serine palmitoyltransferase, the enzyme that catalyses the first and rate-limiting step of sphingolipid biosynthesis. It is an endoplasmic reticulum membrane protein. Browse Assay Genie's current range of SPTLC1 research reagents below, or read on for the biology behind the target.
SPTLC1 is a component of the multisubunit serine palmitoyltransferase (SPT) enzyme. SPT catalyses the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine with an activated acyl-CoA, most commonly palmitoyl-CoA, to form long-chain bases; the NCBI Gene summary describes the product as 3-oxosphinganine, formed with pyridoxal 5'-phosphate. The complex also contains SPTLC2 or SPTLC3, together with SPTSSA or SPTSSB. The heterodimer of SPTLC1 with SPTLC2 or SPTLC3 forms the catalytic core.
Subunit composition determines substrate preference. The SPTLC1-SPTLC2-SPTSSA complex strongly prefers C16-CoA, whereas SPTLC1-SPTLC3-SPTSSA uses both C14-CoA and C16-CoA with a slight preference for C14-CoA. SPTLC1-SPTLC2-SPTSSB strongly prefers C18-CoA, and SPTLC1-SPTLC3-SPTSSB can use a broader range of acyl-CoAs without apparent preference. SPTLC1 is also required for adipocyte cell viability and metabolic homeostasis.
The SPTLC1 gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family, and the SPTLC1 protein localises to the endoplasmic reticulum membrane. Alternatively spliced variants encoding different isoforms have been identified, and pseudogenes have been defined on chromosomes 1, 6, 10 and 13. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1, which explains the aliases HSAN1 and HSN1 and the previous gene name. Mouse and rat each have an orthologue named Sptlc1.
SPTLC1 is part of the enzyme that catalyses the initial, rate-limiting step of sphingolipid biosynthesis, making it central to studies of long-chain base production.
Mutations in the SPTLC1 gene were identified in patients with hereditary sensory neuropathy type 1, so it is a focus of neuropathy research.
SPTLC1 pairs with SPTLC2 or SPTLC3 and SPTSSA or SPTSSB, and these combinations determine acyl-CoA substrate preference.
SPTLC1 is required for adipocyte cell viability and metabolic homeostasis, linking sphingolipid synthesis to adipose tissue research.
SPTLC1 is a subunit of serine palmitoyltransferase, which condenses L-serine and an activated acyl-CoA, usually palmitoyl-CoA, to form long-chain bases. This is the initial and rate-limiting step in sphingolipid biosynthesis. SPTLC1 forms the catalytic core as a heterodimer with SPTLC2 or SPTLC3.
SPTLC1 is also known as LCB1, SPTI, HSAN1, hLCB1 and HSN1. UniProt names the protein serine palmitoyltransferase 1. The HGNC previous name, hereditary sensory neuropathy, type 1, reflects the disease in which mutations were identified. Alternatively spliced variants encode different isoforms.
Mouse and rat both have an orthologue named Sptlc1. In humans, mutations in SPTLC1 were identified in patients with hereditary sensory neuropathy type 1. Check the datasheet of any product for its validated reactivity before use in a given species.
Other serine palmitoyltransferase long chain base subunits that pair with SPTLC1 in the SPT catalytic core.
Gene and protein annotations from HGNC, NCBI Gene and UniProt O15269; product specifications from Assay Genie datasheets.