SPTLC2

SPTLC2
Identifiers
Aliases	SPTLC2, HSN1C, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a, serine palmitoyltransferase long chain base subunit 2
External IDs	MGI: 108074 HomoloGene: 21610 GeneCards: SPTLC2
Gene location (Human) Chr. Chromosome 14 (human) Band 14q24.3 Start 77,505,997 bp End 77,616,773 bp
Gene location (Mouse) Chr. Chromosome 12 (mouse) Band n/a Start 87,305,058 bp End 87,388,355 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • transferase activity • catalytic activity • serine C-palmitoyltransferase activity • pyridoxal phosphate binding • transferase activity, transferring acyl groups Cellular component • integral component of membrane • serine C-palmitoyltransferase complex • endoplasmic reticulum membrane • membrane • endoplasmic reticulum • mitochondrion Biological process • lipid metabolic process • sphinganine biosynthetic process • sphingosine biosynthetic process • sphingolipid biosynthetic process • biosynthetic process • sphingomyelin biosynthetic process • positive regulation of lipophagy • metabolic process • ceramide biosynthetic process • sphingolipid metabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	9517	20773
Ensembl	ENSG00000100596	ENSMUSG00000021036
UniProt	O15270	P97363
RefSeq (mRNA)	NM_004863	NM_011479
RefSeq (protein)	NP_004854 NP_004854.1	NP_035609
Location (UCSC)	Chr 14: 77.51 – 77.62 Mb	Chr 14: 87.31 – 87.39 Mb
PubMed search

9517

20773

ENSG00000100596

ENSMUSG00000021036

O15270

P97363

NM_004863

NM_011479

NP_004854
NP_004854.1

NP_035609

Serine palmitoyltransferase, long chain base subunit 2, also known as SPTLC2, is a protein which in humans is encoded by the SPTLC2 gene.

This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the initial enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal 5'-phosphate dependent condensation of L-serine and palmitoyl CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. Alternatively spliced variants encoding different isoforms have been identified.

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