Cers6 ceramide synthase 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cers6provided by MGI
Official Full Name: ceramide synthase 6provided by MGI
Primary source: MGI:MGI:2442564
See related: Ensembl:ENSMUSG00000027035 AllianceGenome:MGI:2442564
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: T1L; Lass6; 4732462C07Rik
Summary: Enables sphingosine N-acyltransferase activity. Acts upstream of or within ceramide biosynthetic process. Located in endoplasmic reticulum. Is expressed in blastocyst; early embryo; genitourinary system; and limb mesenchyme. Orthologous to human CERS6 (ceramide synthase 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E18 (RPKM 3.5), large intestine adult (RPKM 3.5) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C2; 2 39.53 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (68691489..68944628)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (68861145..69114284)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

CerS6-dependent ceramide synthesis in hypothalamic neurons promotes ER/mitochondrial stress and impairs glucose homeostasis in obese mice.
Title: CerS6-dependent ceramide synthesis in hypothalamic neurons promotes ER/mitochondrial stress and impairs glucose homeostasis in obese mice.
Ceramide synthase 6 (CerS6) is upregulated in alcohol-associated liver disease and exhibits sex-based differences in the regulation of energy homeostasis and lipid droplet accumulation.
Title: Ceramide synthase 6 (CerS6) is upregulated in alcohol-associated liver disease and exhibits sex-based differences in the regulation of energy homeostasis and lipid droplet accumulation.
CERS6-derived ceramides aggravate kidney fibrosis by inhibiting PINK1-mediated mitophagy in diabetic kidney disease.
Title: CERS6-derived ceramides aggravate kidney fibrosis by inhibiting PINK1-mediated mitophagy in diabetic kidney disease.
Generation of a ceramide synthase 6 mouse lacking the DDRSDIE C-terminal motif.
Title: Generation of a ceramide synthase 6 mouse lacking the DDRSDIE C-terminal motif.
Our data suggest that protection from colitis following adoptive transfer of CerS6-deficient splenocytes maybe related to their ability to migrate and proliferate in vivo rather than subset development or cytokine expression.
Title: Adoptive Transfer of Ceramide Synthase 6 Deficient Splenocytes Reduces the Development of Colitis.
ceramide synthase (CerS)6 was specifically up-regulated in experimental alcoholic steatosis in vivo and in vitro
Title: A novel role for ceramide synthase 6 in mouse and human alcoholic steatosis.
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.
These results suggest that the phosphorylation of ceramide synthases may be a key regulatory point in the control of the distribution and levels of sphingolipids of various acyl-chain lengths.
Title: Enzyme Activities of the Ceramide Synthases CERS2-6 Are Regulated by Phosphorylation in the C-terminal Region.
CerS6 deletion increases energy expenditure and improves glucose tolerance, not only in CerS6(Delta/Delta) mice, but also in brown adipose tissue- (CerS6(DeltaBAT)) and liver-specific (CerS6(DeltaLIVER)) CerS6 knockout mice.
Title: Obesity-induced CerS6-dependent C16:0 ceramide production promotes weight gain and glucose intolerance.
Data show that ceramide synthase 6 knockout (CerS6KO) experimental autoimmune encephalomyelitis (EAE) mice exhibit exacerbated progression of clinical symptoms.
Title: Exacerbation of experimental autoimmune encephalomyelitis in ceramide synthase 6 knockout mice is associated with enhanced activation/migration of neutrophils.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Gene trapped (3) 1 citation
Endonuclease-mediated (5)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2Mit182 (e-PCR), detects polymorphism
- UniSTS:116271

NoName (e-PCR)
- UniSTS:234413

34.MMHAP46FRD10.seq (e-PCR)
- UniSTS:124092

AW544719 (e-PCR)
- UniSTS:178634

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
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	IMP Inferred from Mutant Phenotype more info	PubMed
enables sphingosine N-acyltransferase activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ceramide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ceramide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
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
acts_upstream_of_or_within inflammatory response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of oligodendrocyte apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sphingolipid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ceramide synthase 6

Names: LAG1 homolog, ceramide synthase 6; LAG1 longevity assurance homolog 6; longevity assurance homolog 6; sphingoid base N-palmitoyltransferase CERS6

NP_001334090.1

EC 2.3.1.291

NP_766444.1

EC 2.3.1.291

XP_017173563.1

EC 2.3.1.291

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.

mRNA and Protein(s)

NM_001347161.2 → NP_001334090.1 ceramide synthase 6 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).

Source sequence(s)

AL929137, AL929221

Consensus CDS

CCDS84532.1

UniProtKB/TrEMBL

H3BL08

Related

ENSMUSP00000135604.2, ENSMUST00000176018.2

Conserved Domains (2) summary

cd00086
Location:76 → 127

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam03798
Location:131 → 324

TRAM_LAG1_CLN8; TLC domain
NM_172856.5 → NP_766444.1 ceramide synthase 6 isoform 2

See identical proteins and their annotated locations for NP_766444.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AL929137, AL929221

Consensus CDS

CCDS16086.1

UniProtKB/Swiss-Prot

Q3U817, Q8BV12, Q8C172

Related

ENSMUSP00000028426.3, ENSMUST00000028426.9

Conserved Domains (2) summary

cd00086
Location:76 → 127

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam03798
Location:131 → 324

TRAM_LAG1_CLN8; TLC domain