InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SPTLC2

Summary

InnateDB Protein

IDBP-14022.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SPTLC2

Protein Name

serine palmitoyltransferase, long chain base subunit 2

Synonyms

hLCB2a; HSN1C; LCB2; LCB2A; NSAN1C; SPT2;

Species

Homo sapiens

Ensembl Protein

ENSP00000216484

InnateDB Gene

IDBG-14020 (SPTLC2)

Protein Structure

UniProt Annotation

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:0000269PubMed:19416851, ECO:0000269PubMed:20920666}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.

Disease Associations

Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness. {ECO:0000269PubMed:20920666, ECO:0000269PubMed:23658386}. Note=The disease is caused by mutations affecting the gene represented in this entry. SPTLC2 disease mutations cause a shift in the substrate specificity of SPT resulting in the alternative use of L-alanine and L-glycine over its canonical substrate L-serine. This leads to the production of 1-deoxysphingolipids that cannot be correctly metabolized (PubMed:23658386). {ECO:0000269PubMed:23658386}.

Tissue Specificity

Widely expressed. {ECO:0000269PubMed:17023427}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	5 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004758	serine C-palmitoyltransferase activity
GO:0030170	pyridoxal phosphate binding

Biological Process

GO:0006665	sphingolipid metabolic process
GO:0006686	sphingomyelin biosynthetic process
GO:0009058	biosynthetic process
GO:0030148	sphingolipid biosynthetic process
GO:0044281	small molecule metabolic process
GO:0046511	sphinganine biosynthetic process
GO:0046512	sphingosine biosynthetic process
GO:0046513	ceramide biosynthetic process

Cellular Component

GO:0005739	mitochondrion
GO:0005789	endoplasmic reticulum membrane
GO:0016021	integral component of membrane
GO:0017059	serine C-palmitoyltransferase complex