SPTLC1

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]

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)[1] Band 9q22.31 Start 92,000,087 bp[1] End 92,115,413 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 B1 Start 53,486,784 bp[2] End 53,531,433 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse 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 Mb Chr 13: 53.49 – 53.53 Mb PubMed search [3] [4]
Wikidata
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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]