Gene/Proteome Database (LMPD)

LMPD ID
LMP001190
Gene ID
9517
Species
Homo sapiens (Human)
Gene Name
serine palmitoyltransferase, long chain base subunit 2
Gene Symbol
SPTLC2
Synonyms
HSN1C; LCB2; LCB2A; NSAN1C; SPT2; hLCB2a
Alternate Names
serine palmitoyltransferase 2; LCB 2; SPT 2; serine-palmitoyl-CoA transferase 2; long chain base biosynthesis protein 2a; serine palmitoyltransferase, subunit II
Chromosome
14
Map Location
14q24.3
EC Number
2.3.1.50
Summary
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]
Orthologs
View 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
MRPEPGGCCCRRTVRANGCVANGEVRNGYVRSSAAAAAAAAAGQIHHVTQNGGLYKRPFNEAFEETPMLVAVLTYVGYGVLTLFGYLRDFLRYWRIEKCHHATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPICSVPGARVDIMERQSHDYNWSFKYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAKVLEEYGAGVCSTRQEIGNLDKHEELEELVARFLGVEAAMAYGMGFATNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQPRTRRPWKKILILVEGIYSMEGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPTGRGVVEYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRTHSHSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGKECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVVPLMLYMPAKIGAFGREMLKRNIGVVVVGFPATPIIESRARFCLSAAHTKEILDTALKEIDEVGDLLQLKYSRHRLVPLLDRPFDETTYEETED

Gene Information

Entrez Gene ID
9517
Gene Name
serine palmitoyltransferase, long chain base subunit 2
Gene Symbol
SPTLC2
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0005739 IEA:Ensembl C mitochondrion
GO:0017059 IDA:UniProtKB C serine C-palmitoyltransferase complex
GO:0030170 IEA:InterPro F pyridoxal phosphate binding
GO:0004758 IDA:UniProtKB F serine C-palmitoyltransferase activity
GO:0046513 IEA:Ensembl P ceramide biosynthetic process
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0046511 IEA:Ensembl P sphinganine biosynthetic process
GO:0030148 TAS:UniProtKB P sphingolipid biosynthetic process
GO:0006665 TAS:Reactome P sphingolipid metabolic process
GO:0006686 IEA:Ensembl P sphingomyelin biosynthetic process
GO:0046512 IEA:Ensembl P sphingosine biosynthetic process

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY3DJ-12 ceramide biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_115810 Sphingolipid de novo biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR004839 Aminotransferase, class I/classII
IPR001917 Aminotransferase, class-II, pyridoxal-phosphate binding site
IPR015424 Pyridoxal phosphate-dependent transferase
IPR015421 Pyridoxal phosphate-dependent transferase, major region, subdomain 1
IPR015422 Pyridoxal phosphate-dependent transferase, major region, subdomain 2

UniProt Annotations

Entry Information

Gene Name
serine palmitoyltransferase, long chain base subunit 2
Protein Entry
SPTC2_HUMAN
UniProt ID
O15270
Species
Human

Comments

Comment Type Description
Catalytic Activity Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D- sphinganine + CO(2).
Cofactor Name=pyridoxal 5'-phosphate; Xref=ChEBI
Disease Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM
Function Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (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. {ECO
Pathway Lipid metabolism; sphingolipid metabolism.
Sequence Caution Sequence=BAA25452.2; Type=Erroneous initiation; Evidence= ;
Similarity Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
Subcellular Location Endoplasmic reticulum membrane {ECO
Subunit Heterodimer with SPTLC1. Component of the serine palmitoyltransferase (SPT) complex, composed of LCB1/SPTLC1, LCB2 (SPTLC2 or SPTLC3) and ssPT (SPTSSA and SPTSSB).
Tissue Specificity Widely expressed.

Identical and Related Proteins

Unique RefSeq proteins for LMP001190 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4758668 RefSeq NP_004854 562 serine palmitoyltransferase 2

Identical Sequences to LMP001190 proteins

Reference Database Accession Length Protein Name
GI:4758668 DBBJ BAG09754.1 562 serine palmitoyltransferase 2, partial [synthetic construct]
GI:4758668 GenBank EAW81299.1 562 serine palmitoyltransferase, long chain base subunit 2, isoform CRA_a [Homo sapiens]
GI:4758668 GenBank ABM84223.1 562 serine palmitoyltransferase, long chain base subunit 2 [synthetic construct]
GI:4758668 GenBank ABM87785.1 562 serine palmitoyltransferase, long chain base subunit 2, partial [synthetic construct]
GI:4758668 GenBank AFL44414.1 562 Sequence 7 from patent US 8183005
GI:4758668 GenBank AIC55606.1 562 SPTLC2, partial [synthetic construct]

Related Sequences to LMP001190 proteins

Reference Database Accession Length Protein Name
GI:4758668 DBBJ BAA25452.2 609 KIAA0526 protein, partial [Homo sapiens]
GI:4758668 GenBank JAA10766.1 564 serine palmitoyltransferase, long chain base subunit 2 [Pan troglodytes]
GI:4758668 GenBank JAA10767.1 564 serine palmitoyltransferase, long chain base subunit 2 [Pan troglodytes]
GI:4758668 GenBank JAA10768.1 564 serine palmitoyltransferase, long chain base subunit 2 [Pan troglodytes]
GI:4758668 GenBank JAA10769.1 564 serine palmitoyltransferase, long chain base subunit 2 [Pan troglodytes]
GI:4758668 GenBank JAA10770.1 564 serine palmitoyltransferase, long chain base subunit 2 [Pan troglodytes]