InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SPTLC1

Summary

InnateDB Gene

IDBG-75806.6

Last Modified

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

Gene Symbol

SPTLC1

Gene Name

serine palmitoyltransferase, long chain base subunit 1

Synonyms

HSAN1; HSN1; LBC1; LCB1; SPT1; SPTI

Species

Homo sapiens

Ensembl Gene

ENSG00000090054

Encoded Proteins

IDBP-75808

serine palmitoyltransferase, long chain base subunit 1

IDBP-75810

serine palmitoyltransferase, long chain base subunit 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5\'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 9:92031999-92115384

Strand

Reverse strand

Band

q22.31

Transcripts

ENST00000262554	ENSP00000262554
ENST00000337841	ENSP00000337635
ENST00000469778
ENST00000482632
ENST00000477888
ENST00000488921
ENST00000461132

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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000021468

View Gene Order

ENSBTAG00000002220

Not yet available

Pathways

NETPATH

REACTOME

REACT_115810

Sphingolipid de novo biosynthesis pathway

REACT_19323

Sphingolipid metabolism pathway

REACT_22258

Metabolism of lipids and lipoproteins pathway

REACT_111217

Metabolism pathway

KEGG

hsa00600

Sphingolipid metabolism pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

RefSeq

NM_001281303 NM_006415 NM_178324

HUGO

OMIM

CCDS

CCDS6692 CCDS6693

HPRD

05754

IMGT

EMBL

GenPept

RNA Seq Atlas