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Sptlc1
Gene Detail
 Symbol
Name
ID
Sptlc1
serine palmitoyltransferase, long chain base subunit 1
MGI:1099431
Synonyms Lcb1
Feature Type protein coding gene
Genetic Map
Chromosome 13
27.68 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr13:53332748-53377361 bp, - strand
From NCBI annotation of GRCm38

  44614 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4681  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: 8-amino-7-oxononanoate synthase / 2-amino-3-ketobutyrate:CoA ligase
Gene Tree: Sptlc1

Human
homologs
Human Homolog SPTLC1, serine palmitoyltransferase, long chain base subunit 1
NCBI Gene ID 10558
neXtProt AC  NX_O15269
Human Synonyms  HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI
Human Chr (Location)  9q22.2; chr9:92031134-92115474 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human SPTLC1
Alleles
and
phenotypes
All alleles(6) : Gene trapped(5) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for a knock-out allele exhibit abnormal sphingolipid levels.
 
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process biosynthetic process, ceramide biosynthetic process, ...
Component endoplasmic reticulum, integral component of membrane, ...
Function catalytic activity, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (94)    Tissues (94)   
Theiler Stages: 22
Assay TypeResults
RNA in situ 94
cDNA source data(17)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(19) cDNA(17) Primer pair(2)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000021468 (Evidence)
Entrez Gene268656 (Evidence)
DFCITC1573564
DoTSDT.101144490, DT.101380734, DT.533101
NIA Mouse Gene IndexU034786
EC2.3.1.50
Consensus CDS ProjectCCDS26521.1
International Mouse Knockout Project StatusSptlc1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 268656 NCBI Gene Model | MGI Sequence Detail 44614 C57BL/6J ±  kb
transcript NM_009269 RefSeq | MGI Sequence Detail 2601 Not Specified 
polypeptide O35704 UniProt | EBI | MGI Sequence Detail 473 Not Applicable 

For the selected sequences
All sequences(36) RefSeq(5) UniProt(6)
Polymorphisms SNPs within 2kb(512 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004839 Aminotransferase, class I/classII
InterPro IPR015424 Pyridoxal phosphate-dependent transferase
InterPro IPR015421 Pyridoxal phosphate-dependent transferase, major region, subdomain 1
InterPro IPR015422 Pyridoxal phosphate-dependent transferase, major region, subdomain 2
Protein Ontology PR:000015596 serine palmitoyltransferase 1
Graphical View of Protein Domain Structure
References (Earliest) J:43725 Weiss B, et al., Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis. Eur J Biochem. 1997 Oct 1;249(1):239-47
(Latest) J:208287 Haller JF, et al., Endogenous beta-glucocerebrosidase activity in Abca12(-)/(-)epidermis elevates ceramide levels after topical lipid application but does not restore barrier function. J Lipid Res. 2014 Mar;55(3):493-503
All references(44)
Other
accession IDs
MGI:2145452, MGI:2145493

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory