SPTLC2

Also known as HSN1C, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a, serine palmitoyltransferase long chain base subunit 2

Serine palmitoyltransferase, long chain base subunit 2, also known as SPTLC2, is a protein which in humans is encoded by the SPTLC2 gene. SPTLC2 belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.

Gene data

SPTLC2

Name: serine palmitoyltransferase long chain base subunit 2
Type: protein-coding
Position: 77,505,997–77,616,672 (−)
Aliases: HSN1C, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a
Ensembl: ENSG00000100596
RefSeq RNA: NM_004863.4, XM_011537384.3, XM_054377088.1
RefSeq protein: NP_004854.1, XP_011535686.1, XP_054233063.1

This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-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. [provided by RefSeq, Mar 2011].

Gene Ontology

Biological process

sphingolipid metabolic process sphingomyelin biosynthetic process glycosphingolipid biosynthetic process sphingolipid biosynthetic process sphingolipid biosynthetic process sphingolipid biosynthetic process sphingolipid biosynthetic process sphingosine biosynthetic process

Molecular function

serine C-palmitoyltransferase activity serine C-palmitoyltransferase activity serine C-palmitoyltransferase activity serine C-palmitoyltransferase activity serine C-palmitoyltransferase activity serine C-palmitoyltransferase activity protein binding transferase activity

Cellular component

endoplasmic reticulum membrane endoplasmic reticulum membrane endoplasmic reticulum membrane serine palmitoyltransferase complex serine palmitoyltransferase complex serine palmitoyltransferase complex cytoplasmic side of endoplasmic reticulum membrane

Pathways

Sphingolipid metabolism - Homo sapiens (human)Sphingolipid signaling pathway - Homo sapiens (human)Metabolism Sphingolipid de novo biosynthesis Sphingolipid metabolism Metabolism of lipids Sphingolipid pathway Sphingolipid Metabolism (general overview)Sphingolipid Metabolism (integrated pathway)

via MyGene.info

Gene · Ensembl

serine palmitoyltransferase long chain base subunit 2

Symbol: SPTLC2
Biotype: Protein coding
Organism: Homo sapiens
Location: 14:77,505,997-77,616,781
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 21610
exact match: identifiers.org/ncbigene/9517
genomic end: 77616637
genomic start: 77972340
cytogenetic location: 14q24.3

Sources (4)

via Wikidata · CC0

~2 min read

Article

5 sections

Contents

Function
Tissue distribution
Clinical significance
References
Further reading

== Function == SPTLC2 encodes a long chain base subunit of serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. It catalyzes the pyridoxal 5'-phosphate dependent condensation of L-serine with an acyl-CoA thioester to yield an amino alcohol. The composition of the SPT complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate.