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
Orthologs
SpeciesHumanMouse
Entrez

10558

268656

Ensembl

ENSG00000090054

ENSMUSG00000021468

UniProt

O15269

O35704

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: 53.49 – 53.53 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, macular disease,[7] and juvenile amyotrophic lateral sclerosis.[8][9] Alternatively spliced variants encoding different isoforms have been identified.[5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000090054 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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". European Journal of Biochemistry. 249 (1): 239–247. doi:10.1111/j.1432-1033.1997.00239.x. PMID 9363775.
  7. Gantner ML, Eade K, Wallace M, Handzlik MK, Fallon R, Trombley J, et al. (October 2019). "Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy". The New England Journal of Medicine. 381 (15): 1422–1433. doi:10.1056/NEJMoa1815111. PMC 7685488. PMID 31509666.
  8. Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, etak (October 2021). "Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis". JAMA Neurology. 78 (10): 1236–1248. doi:10.1001/jamaneurol.2021.2598. PMC 8406220. PMID 34459874.
  9. Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, et al. (July 2021). "Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis". Nature Medicine. 27 (7): 1197–1204. doi:10.1038/s41591-021-01346-1. PMC 9309980. PMID 34059824.

Further reading


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