SPTLC1

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SPTLC1
Identifiers
AliasesSPTLC1, HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI, serine palmitoyltransferase long chain base subunit 1
External IDsOMIM: 605712 MGI: 1099431 HomoloGene: 4681 GeneCards: SPTLC1
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for SPTLC1
Genomic location for SPTLC1
Band9q22.31Start92,000,087 bp[1]
End92,115,413 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001281303
NM_006415
NM_178324
NM_001368272
NM_001368273

NM_009269

RefSeq (protein)

NP_001268232
NP_006406
NP_847894
NP_001355201
NP_001355202

NP_033295

Location (UCSC)Chr 9: 92 – 92.12 MbChr 13: 53.33 – 53.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[5][6]

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.[5]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000090054 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021468 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: SPTLC1 serine palmitoyltransferase, long chain base subunit 1".
  6. ^ 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]

External links[edit]