InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SPTLC1

Summary

InnateDB Protein

IDBP-75808.6

Last Modified

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

Gene Symbol

SPTLC1

Protein Name

serine palmitoyltransferase, long chain base subunit 1

Synonyms

HSAN1; HSN1; LBC1; LCB1; SPT1; SPTI;

Species

Homo sapiens

Ensembl Protein

ENSP00000262554

InnateDB Gene

IDBG-75806 (SPTLC1)

Protein Structure

UniProt Annotation

Function

Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 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-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1- SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference. {ECO:0000269PubMed:19416851}.

Subcellular Localization

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

Disease Associations

Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400]: 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. HSAN1A is an autosomal dominant axonal form with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations. {ECO:0000269PubMed:11242114, ECO:0000269PubMed:19651702, ECO:0000269PubMed:21618344, ECO:0000269PubMed:22302274}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Not detected in small intestine. {ECO:0000269PubMed:17023427}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	20 [view]
Protein-Protein	20 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004758	serine C-palmitoyltransferase activity
GO:0005515	protein binding
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:0005789	endoplasmic reticulum membrane
GO:0016021	integral component of membrane
GO:0017059	serine C-palmitoyltransferase complex
GO:0035339	SPOTS complex