LMPD Database

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LMP012382

Record overview

LMPD IDLMP012382
Gene ID55304
SpeciesHomo sapiens (Human)
Gene Nameserine palmitoyltransferase, long chain base subunit 3
Gene SymbolSPTLC3
SynonymsLCB3; SPT3; LCB2B; hLCB2b; SPTLC2L; C20orf38; dJ718P11; dJ718P11.1;
Chromosome20
Map Location20p12.1
EC Number2.3.1.50
SummaryThe SPTLC3 gene encodes an isoform of the third subunit of serine palmitoyltransferase (SPT; EC 2.3.1.50), which catalyzes the rate-limiting step of the de novo synthesis of sphingolipids (Hornemann et al., 2006 [PubMed 17023427]). SPT contains 2 main subunits: the common SPTLC1 subunit (MIM 605712) and either SPTLC2 (MIM 605713) or its isoform SPTLC2L (SPTLC3), depending on the tissue in which biosynthesis occurs (Hornemann et al., 2006 [PubMed 17023427]). There are also 2 highly related isoforms of a third subunit, SSSPTA (MIM 613540) and SSSPTB (MIM 610412), that confer acyl-CoA preference of the SPT enzyme and are essential for maximal enzyme activity (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]
OrthologsView orthologs and multiple alignments for SPTLC3

Proteins

serine palmitoyltransferase 3
Refseq ID:NP_060797
Protein GI:119220554
UniProt ID:Q9NUV7
mRNA ID:NM_018327
Length:552
RefSeq Status:
MANPGGGAVCNGKLHNHKKQSNGSQSRNCTKNGIVKEAQQNGKPHFYDKLIVESFEEAPLHVMVFTYMGYGIGTLFGYLRDFLRNWGIEKCNAAVERKEQ
KDFVPLYQDFENFYTRNLYMRIRDNWNRPICSAPGPLFDLMERVSDDYNWTFRFTGRVIKDVINMGSYNFLGLAAKYDESMRTIKDVLEVYGTGVASTRH
EMGTLDKHKELEDLVAKFLNVEAAMVFGMGFATNSMNIPALVGKGCLILSDELNHTSLVLGARLSGATIRIFKHNNTQSLEKLLRDAVIYGQPRTRRAWK
KILILVEGVYSMEGSIVHLPQIIALKKKYKAYLYIDEAHSIGAVGPTGRGVTEFFGLDPHEVDVLMGTFTKSFGASGGYIAGRKDLVDYLRVHSHSAVYA
SSMSPPIAEQIIRSLKLIMGLDGTTQGLQRVQQLAKNTRYFRQRLQEMGFIIYGNENASVVPLLLYMPGKVAAFARHMLEKKIGVVVVGFPATPLAEARA
RFCVSAAHTREMLDTVLEALDEMGDLLQLKYSRHKKSARPELYDETSFELED