Gene/Proteome Database (LMPD)
LMPD ID
LMP001190
Gene ID
Species
Homo sapiens (Human)
Gene Name
serine palmitoyltransferase, long chain base subunit 2
Gene Symbol
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
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
Gene Name
serine palmitoyltransferase, long chain base subunit 2
Gene Symbol
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
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] |