Cers1 ceramide synthase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cers1provided by MGI
Official Full Name: ceramide synthase 1provided by MGI
Primary source: MGI:MGI:2136690
See related: Ensembl:ENSMUSG00000087408 AllianceGenome:MGI:2136690
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: to; Lass1; Uog-1
Summary: This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Mice lacking a functional copy of this gene exhibit impaired cerebellar development, locomotion and motor coordination. This protein is transcribed from a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]
Expression: Biased expression in frontal lobe adult (RPKM 27.2), cortex adult (RPKM 24.5) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B3.3; 8 34.15 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (70768425..70784238)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (70315775..70331588)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibition of CERS1 in skeletal muscle exacerbates age-related muscle dysfunction.
Title: Inhibition of CERS1 in skeletal muscle exacerbates age-related muscle dysfunction.
CerS1 but Not CerS5 Gene Silencing, Improves Insulin Sensitivity and Glucose Uptake in Skeletal Muscle.
Title: CerS1 but Not CerS5 Gene Silencing, Improves Insulin Sensitivity and Glucose Uptake in Skeletal Muscle.
Downregulation of ceramide synthase 1 promotes oral cancer through endoplasmic reticulum stress.
Title: Downregulation of ceramide synthase 1 promotes oral cancer through endoplasmic reticulum stress.
The strong association of LCB levels with neuronal survival both in vivo and in vitro suggests high-level accumulation of LCBs is a possible underlying cause of the CerS1 deficiency-induced neuronal death.
Title: Ectopic expression of ceramide synthase 2 in neurons suppresses neurodegeneration induced by ceramide synthase 1 deficiency.
CerS1, -2, and -6 are hyperacetylated in the mitochondria of SIRT3-null mice.
Title: SIRT3 Deacetylates Ceramide Synthases: IMPLICATIONS FOR MITOCHONDRIAL DYSFUNCTION AND BRAIN INJURY.
study is the first comparison of spatial distribution between SM molecular species and CerS isoforms, and revealed their distinct association in the brain.
Title: Histological analyses by matrix-assisted laser desorption/ionization-imaging mass spectrometry reveal differential localization of sphingomyelin molecular species regulated by particular ceramide synthase in mouse brains.
Data indicate that oxidized phospholipids (OxPLs)-induced ceramide synthases (CerS1-Cers6) activity in macrophages is responsible for the accumulation of ceramide.
Title: Oxidized phospholipids induce ceramide accumulation in RAW 264.7 macrophages: role of ceramide synthases.
an essential function of CerS1-derived ceramide in the regulation of cerebellar development and neurodevelopmentally regulated behavior.
Title: Ablation of neuronal ceramide synthase 1 in mice decreases ganglioside levels and expression of myelin-associated glycoprotein in oligodendrocytes.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (2) 1 citation
Targeted (3) 1 citation

General gene information

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Markers

RH139099 (e-PCR)
- UniSTS:221185

Gdf1 (e-PCR), detects polymorphism
- UniSTS:496651

AI385651 (e-PCR)
- UniSTS:159770

NoName (e-PCR)
- UniSTS:235917

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sphingosine N-acyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sphingosine N-acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables sphingosine N-acyltransferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to UV-A	ISO Inferred from Sequence Orthology more info
involved_in cellular response to dithiothreitol	ISO Inferred from Sequence Orthology more info
involved_in cellular response to mycotoxin	ISO Inferred from Sequence Orthology more info
involved_in cellular response to xenobiotic stimulus	ISO Inferred from Sequence Orthology more info
involved_in ceramide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ceramide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ceramide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of D-glucose import	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitophagy	ISO Inferred from Sequence Orthology more info
involved_in sphingolipid biosynthetic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ceramide synthase 1

Names: LAG1 homolog, ceramide synthase 1; LAG1 longevity assurance homolog 1; longevity assurance gene 1 protein homolog 1; longevity assurance homolog 1; protein UOG-1; sphingoid base N-stearoyltransferase CERS1

NP_619588.1

EC 2.3.1.299

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.