Homo sapiens Gene: SPTLC3
Summary
InnateDB Gene IDBG-54517.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SPTLC3
Gene Name serine palmitoyltransferase, long chain base subunit 3
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000172296
Encoded Proteins
serine palmitoyltransferase, long chain base subunit 3
serine palmitoyltransferase, long chain base subunit 3
serine palmitoyltransferase, long chain base subunit 3
serine palmitoyltransferase, long chain base subunit 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The SPTLC3 gene encodes an isoform of the third subunit of serine palmitoyltransferase (SPT; EC 2.3.1.50), which catalyzes the rate-limiting step of the de novo synthesis of sphingolipids (Hornemann et al., 2006 [PubMed 17023427]). SPT contains 2 main subunits: the common SPTLC1 subunit (MIM 605712) and either SPTLC2 (MIM 605713) or its isoform SPTLC2L (SPTLC3), depending on the tissue in which biosynthesis occurs (Hornemann et al., 2006 [PubMed 17023427]). There are also 2 highly related isoforms of a third subunit, SSSPTA (MIM 613540) and SSSPTB (MIM 610412), that confer acyl-CoA preference of the SPT enzyme and are essential for maximal enzyme activity (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:13008979-13169103
Strand Forward strand
Band p12.1
Transcripts
ENST00000399002 ENSP00000381968
ENST00000434210 ENSP00000389749
ENST00000450297 ENSP00000409125
ENST00000431275 ENSP00000409760
ENST00000476791
ENST00000485952
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
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:0008483 transaminase activity
GO:0016829 lyase activity
GO:0030170 pyridoxal phosphate binding
Biological Process
GO:0006520 cellular amino acid metabolic process
GO:0006665 sphingolipid metabolic process
GO:0008152 metabolic process
GO:0009058 biosynthetic process
GO:0030148 sphingolipid biosynthetic process
GO:0044281 small molecule metabolic process
GO:0046520 sphingoid biosynthetic process
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0017059 serine C-palmitoyltransferase complex
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Pathways
NETPATH
REACTOME
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
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.425023
RefSeq NM_018327
HUGO
OMIM
CCDS CCDS13115
HPRD 12765
IMGT
EMBL
GenPept
RNA Seq Atlas