SPTLC1

Identifiers

SPTLC1, HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI, serine palmitoyltransferase long chain base subunit 1

External IDs

MGI: 1099431 HomoloGene: 4681 GeneCards: SPTLC1

Gene ontology
Molecular function	• serine C-palmitoyltransferase activity • transferase activity, transferring acyl groups • protein binding • pyridoxal phosphate binding • catalytic activity • transferase activity
Cellular component	• integral component of membrane • membrane • SPOTS complex • serine C-palmitoyltransferase complex • endoplasmic reticulum membrane • endoplasmic reticulum
Biological process	• sphingolipid metabolic process • sphinganine biosynthetic process • sphingosine biosynthetic process • sphingomyelin biosynthetic process • positive regulation of lipophagy • lipid metabolic process • sphingolipid biosynthetic process • biosynthetic process • ceramide biosynthetic process
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


10558


268656

Ensembl


ENSG00000090054


ENSMUSG00000021468

UniProt


O15269


O35704

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

NM_001281303
NM_006415
NM_178324

NM_009269

NP_001268232
NP_006406
NP_847894

NP_033295.2
NP_033295

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

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.

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