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Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1)

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

Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1)
CCC H138
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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPH138Mu01 Recombinant Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1) Positive Control; Immunogen; SDS-PAGE; WB.
RPH138Mu02 Recombinant Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAH138Mu01 Polyclonal Antibody to Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1) WB,IHC
PAH138Mu02 Polyclonal Antibody to Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1) WB; IHC; ICC; IP.
Assay Kits SEH138Mu ELISA Kit for Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Serine Palmitoyltransferase, Long Chain Base Subunit 1 (SPTLC1) ELISA Kit Customized Service Offer
  1. "Human and murine serine-palmitoyl-CoA transferase. Cloning, expression and characterization of the key enzyme in sphingolipid synthesis."Eur. J. Biochem. 249:239-247(1997) [PubMed] [Europe PMC] [Abstract]
  2. "Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I."Nat. Genet. 27:309-312(2001) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "DNA sequence and analysis of human chromosome 9." Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase."J. Biol. Chem. 281:37275-37281(2006) [PubMed] [Europe PMC] [Abstract]
  7. "Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities."Proc. Natl. Acad. Sci. U.S.A. 106:8186-8191(2009) [PubMed] [Europe PMC] [Abstract]
  8. "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]
  9. "Orm family proteins mediate sphingolipid homeostasis."Nature 463:1048-1053(2010) [PubMed] [Europe PMC] [Abstract]
  10. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  11. "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]
  12. "SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I."Neurology 62:1001-1002(2004) [PubMed] [Europe PMC] [Abstract]
  13. "Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene."Neurology 67:1476-1478(2006) [PubMed] [Europe PMC] [Abstract]
  14. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  15. "Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation."Brain 132:2699-2711(2009) [PubMed] [Europe PMC] [Abstract]
  16. "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]
  17. "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]
  18. "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]
  19. "Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype."Eur. J. Med. Genet. 56:266-269(2013) [PubMed] [Europe PMC] [Abstract]
  20. "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]