SPTLC1

SPTLC1
Identifiers
Aliases	SPTLC1, HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI, serine palmitoyltransferase long chain base subunit 1
External IDs	OMIM: 605712; MGI: 1099431; HomoloGene: 4681; GeneCards: SPTLC1; OMA:SPTLC1 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	92,115,413 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	53,531,433 bp
RNA expression pattern
	Top expressed in
	oral cavity; ; skin of hip; ; mucosa of sigmoid colon; ; Achilles tendon; ; skin of thigh; ; germinal epithelium; ; Epithelium of choroid plexus; ; mucosa of pharynx; ; vulva; ; mucosa of paranasal sinus;
	Top expressed in
	gastrula; ; decidua; ; submandibular gland; ; retinal pigment epithelium; ; transitional epithelium of urinary bladder; ; saccule; ; ciliary body; ; iris; ; parotid gland; ; secondary oocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	serine C-palmitoyltransferase activity; acyltransferase activity; 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 metabolism; sphingolipid biosynthetic process; biosynthesis; ceramide biosynthetic process; regulation of fat cell apoptotic process;
	Sources:Amigo / QuickGO
Orthologs
	10558
	268656
	ENSG00000090054
	ENSMUSG00000021468
	O15269
	O35704
	NM_001281303; NM_006415; NM_178324; NM_001368272; NM_001368273
	NM_009269
	NP_001268232; NP_006406; NP_847894; NP_001355201; NP_001355202
	NP_033295
	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.

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, and juvenile amyotrophic lateral sclerosis. Alternatively spliced variants encoding different isoforms have been identified.