SPTLC1

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Serine palmitoyltransferase, long chain base subunit 1
Identifiers
Symbols SPTLC1 ; HSAN1; HSN1; LBC1; LCB1; SPT1; SPTI
External IDs OMIM605712 MGI1099431 HomoloGene4681 ChEMBL: 1250343 GeneCards: SPTLC1 Gene
EC number 2.3.1.50
Orthologs
Species Human Mouse
Entrez 10558 268656
Ensembl ENSG00000090054 ENSMUSG00000021468
UniProt O15269 O35704
RefSeq (mRNA) NM_001281303 NM_009269
RefSeq (protein) NP_001268232 NP_033295
Location (UCSC) Chr 9:
94.79 – 94.88 Mb
Chr 13:
53.33 – 53.38 Mb
PubMed search [1] [2]

Serine palmitoyltransferase, long chain base subunit 1, also known as SPTLC1, is a protein which in humans is encoded by the SPTLC1 gene.[1][2]

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.[1]

References[edit]

  1. ^ a b "Entrez Gene: SPTLC1 serine palmitoyltransferase, long chain base subunit 1". 
  2. ^ Weiss B, Stoffel W (October 1997). "Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis". Eur. J. Biochem. 249 (1): 239–47. doi:10.1111/j.1432-1033.1997.00239.x. PMID 9363775. 

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