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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
Chr13:53332716-53377365 bp, - strand
From Ensembl annotation of GRCm38

  44650 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 western clawed frog; 1 zebrafish

HCOP human homology predictions: SPTLC1
Protein SuperFamily: 8-amino-7-oxononanoate synthase / 2-amino-3-ketobutyrate:CoA ligase
Gene Tree: Sptlc1

Human
homologs
SPTLC1, serine palmitoyltransferase, long chain base subunit 1
Orthology source: HomoloGene, HGNC

IDs:
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.p2

Disease Associations: (1) Diseases Associated with Human SPTLC1

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(5) Targeted(1) Transgenic(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.
 
Mutations Annotated to Human Diseases (1)   
Interactions
Sptlc1 interacts with 172 markers (Mir1a-1, Mir1a-2, Mir15a, ...)
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: (4 records)
Data Summary: Results (94)    Tissues (94)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(17)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase sptlc1 ; ZFIN sptlc1    NEW 
Molecular
reagents
All nucleic(19) cDNA(17) Primer pair(2)
Microarray probesets(4)
Other database
links
Ensembl Gene Model ENSMUSG00000021468 (Evidence)
Entrez Gene 268656 (Evidence)
DFCI TC1573564
DoTS DT.101380734, DT.101144490, DT.533101
NIA Mouse Gene Index U034786
EC 2.3.1.50
Consensus CDS Project CCDS26521.1
International Mouse Phenotyping Consortium Status Sptlc1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021468 Ensembl Gene Model | MGI Sequence Detail 44650 C57BL/6J ±  kb
transcript ENSMUST00000021920 Ensembl | MGI Sequence Detail 2606 Not Applicable 
polypeptide ENSMUSP00000021920 Ensembl | MGI Sequence Detail 473 Not Applicable 

For the selected sequences
All sequences(37) 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
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:216600 Lau CG, et al., Morphology-based mammalian stem cell tests reveal potential developmental toxicity of donepezil. Mol Reprod Dev. 2014 Nov;81(11):994-1008
All references(43)
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
06/30/2015
MGI 5.22
The Jackson Laboratory