Mus musculus Gene: Sptlc1
Summary
InnateDB Gene IDBG-153035.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Sptlc1
Gene Name serine palmitoyltransferase, long chain base subunit 1
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000021468
Encoded Proteins
serine palmitoyltransferase, long chain base subunit 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000090054:
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 13:53332716-53377365
Strand Reverse strand
Band B1
Transcripts
ENSMUST00000021920 ENSMUSP00000021920
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 10 [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:0006686 sphingomyelin biosynthetic process
GO:0009058 biosynthetic process
GO:0046511 sphinganine biosynthetic process
GO:0046512 sphingosine biosynthetic process
GO:0046513 ceramide biosynthetic process
Cellular Component
GO:0016021 integral component of membrane
GO:0017059 serine C-palmitoyltransferase complex
GO:0035339 SPOTS complex
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Sphingolipid de novo biosynthesis pathway
Metabolism pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
KEGG
Sphingolipid metabolism pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Sphingolipid de novo biosynthesis pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
Sphingolipid de novo biosynthesis pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
KEGG
Sphingolipid metabolism pathway
INOH
PID NCI
Cross-References
SwissProt O35704
TrEMBL Q3TST8
UniProt Splice Variant
Entrez Gene 268656
UniGene Mm.240336 Mm.472855
RefSeq NM_009269
OMIM
CCDS CCDS26521
HPRD
IMGT
MGI ID MGI:1099431
MGI Symbol Sptlc1
EMBL AF003823 AK053207 AK079578 AK084391 AK084445 AK161811 BC046323 X95641
GenPept AAC02264 AAH46323 BAC35310 BAC37690 BAC39172 BAC39185 BAE36587 CAA64897
RNA Seq Atlas 268656