LMPD Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
LMP001190

Record overview

LMPD IDLMP001190
Gene ID9517
SpeciesHomo sapiens (Human)
Gene Nameserine palmitoyltransferase, long chain base subunit 2
Gene SymbolSPTLC2
SynonymsHSN1C; LCB2; LCB2A; NSAN1C; SPT2; hLCB2a
Alternate namesserine palmitoyltransferase 2; LCB 2; SPT 2; serine-palmitoyl-CoA transferase 2; long chain base biosynthesis protein 2a; serine palmitoyltransferase, subunit II
Chromosome14
Map Location14q24.3
EC Number2.3.1.50
SummaryThis 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]
OrthologsView orthologs and multiple alignments for SPTLC2

Proteins

serine palmitoyltransferase 2
Refseq ID:NP_004854
Protein GI:4758668
UniProt ID:O15270
mRNA ID:NM_004863
Length:562
RefSeq Status:REVIEWED
MRPEPGGCCCRRTVRANGCVANGEVRNGYVRSSAAAAAAAAAGQIHHVTQNGGLYKRPFNEAFEETPMLVAVLTYVGYGVLTLFGYLRDFLRYWRIEKCH
HATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPICSVPGARVDIMERQSHDYNWSFKYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAKVLEEYG
AGVCSTRQEIGNLDKHEELEELVARFLGVEAAMAYGMGFATNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQ
PRTRRPWKKILILVEGIYSMEGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPTGRGVVEYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRT
HSHSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGKECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVVPLMLYMPAKIGAFGREMLKRNIGVVVVGFPA
TPIIESRARFCLSAAHTKEILDTALKEIDEVGDLLQLKYSRHRLVPLLDRPFDETTYEETED