Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1)

HSAN; HSAN1; HSN1; LBC1; LCB1; SPT1; SPTI; Hereditary Sensory Neuropathy,Type 1; Long chain base biosynthesis protein 1; Serine-palmitoyl-CoA transferase 1

SPN	P605
HGNC	11277
MGI	1099431
PubMed	23629659
RGD	1307140
UniProt	O15269
Wiki	SPTLC1

Serine palmitoyltransferase, which consists of two different subunits, is the initial enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified.

The SPTLC1 cDNA contains an open reading frame of 1,422 nucleotides and encodes a 473-amino acid protein . A search of the UniGene database identified corresponding cDNA clones expressed in 29 different tissues, indicating that SPTLC1 is ubiquitously expressed.

Reference

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"Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I."
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"Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities."
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"A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity."
J. Biol. Chem. 285:22846-22852(2010) [PubMed] [Europe PMC] [Abstract]

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Nature 463:1048-1053(2010) [PubMed] [Europe PMC] [Abstract]

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BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Phosphorylation of serine palmitoyltransferase long chain-1 (SPTLC1) on tyrosine 164 inhibits its activity and promotes cell survival."
J. Biol. Chem. 288:17190-17201(2013) [PubMed] [Europe PMC] [Abstract]

"SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I."
Neurology 62:1001-1002(2004) [PubMed] [Europe PMC] [Abstract]

"Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene."
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"A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated."
Neurogenetics 10:135-143(2009) [PubMed] [Europe PMC] [Abstract]

"Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I."
Hum. Mutat. 32:E2211-E2225(2011) [PubMed] [Europe PMC] [Abstract]

"Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort."
J. Neurol. 259:1673-1685(2012) [PubMed] [Europe PMC] [Abstract]

"Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype."
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"Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation."
Mol. Med. Report. 9:481-486(2014) [PubMed] [Europe PMC] [Abstract]