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 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		hLCB1, HSAN, HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI
Human Chr (Location)		9q22.2; chr9:94793427-94877690 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SPTLC1

Alleles and phenotypes

All alleles(6) : Targeted(1) Gene trapped(5)
 

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 to membrane, ...
Function	catalytic activity, protein binding, ...

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)   
Theiler Stages: 22

Assay Type	Results
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 Model	ENSMUSG00000021468 (Evidence)
Entrez Gene	268656 (Evidence)
DFCI	TC1573564
DoTS	DT.101144490, DT.101380734, DT.533101
NIA Mouse Gene Index	U034786
EC	2.3.1.50
Consensus CDS Project	CCDS26521.1
International Mouse Knockout Project Status	Sptlc1

Sequences

Length	Strain/Species
genomic	268656	NCBI Gene Model | MGI Sequence Detail	44614	C57BL/6J
transcript	NM_009269	RefSeq | MGI Sequence Detail	2601	Not Specified
polypeptide	O35704	UniProt | EBI | MGI Sequence Detail	473	Not Applicable

All sequences(33) RefSeq(2) UniProt(6)

Polymorphisms

SNPs(401 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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
Protein Ontology	PR:000025361	serine palmitoyltransferase 1 (mouse)

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:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(42)

Other accession IDs

MGI:2145452, MGI:2145493