Version 5.4
Homo sapiens Gene: SPTLC2
Summary
InnateDB Gene IDBG-14020.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SPTLC2
Gene Name serine palmitoyltransferase, long chain base subunit 2
Synonyms hLCB2a; HSN1C; LCB2; LCB2A; NSAN1C; SPT2
Species Homo sapiens
Ensembl Gene ENSG00000100596
Encoded Proteins
IDBP-14022
serine palmitoyltransferase, long chain base subunit 2
IDBP-584722
serine palmitoyltransferase, long chain base subunit 2
IDBP-584535
serine palmitoyltransferase, long chain base subunit 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:77505997-77616773
Strand Reverse strand
Band q24.3
Transcripts
ENST00000216484 ENSP00000216484
ENST00000556607 ENSP00000451029
ENST00000554901 ENSP00000452189
ENST00000554365
ENST00000556264
ENST00000557566
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000021036
View Gene Order
ENSBTAG00000020480
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 O15270
TrEMBL A0A024R6H1 H0YJ96
UniProt Splice Variant
Entrez Gene 9517
UniGene Hs.435661
RefSeq NM_004863
HUGO HGNC:11278
OMIM 605713
CCDS CCDS9865
HPRD
IMGT
EMBL AB011098 AF111168 BC005123 CH471061 U15555 Y08686
GenPept AAC50871 AAD09621 AAH05123 BAA25452 CAA69942 EAW81297 EAW81299
RNA Seq Atlas 9517

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca