SPTLC1

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SPTLC1
Identifiers
Aliases SPTLC1, HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI, serine palmitoyltransferase long chain base subunit 1
External IDs MGI: 1099431 HomoloGene: 4681 GeneCards: SPTLC1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001281303
NM_006415
NM_178324

NM_009269

RefSeq (protein)

NP_001268232
NP_006406
NP_847894

NP_033295.2
NP_033295

Location (UCSC) Chr 9: 92.03 – 92.12 Mb Chr 13: 53.33 – 53.38 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Serine palmitoyltransferase, long chain base subunit 1, also known as SPTLC1, is a protein which in humans is encoded by the SPTLC1 gene.[3][4]

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.[3]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: SPTLC1 serine palmitoyltransferase, long chain base subunit 1". 
  4. ^ 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. 

Further reading[edit]

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