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

    Gene ID: 241447, updated on 2-Nov-2024

    Summary

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    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. Involved in ceramide biosynthetic process. Acts upstream of or within sphingolipid biosynthetic process. Located in endoplasmic reticulum. Is expressed in blastocyst; early embryo; genitourinary system; limb mesenchyme; and skin. Orthologous to human CERS6 (ceramide synthase 6). [provided by Alliance of Genome Resources, Nov 2024]
    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

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    See Cers6 in Genome Data Viewer
    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_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 36231 Neighboring gene predicted gene, 36174 Neighboring gene predicted gene 13612 Neighboring gene STARR-seq mESC enhancer starr_04715 Neighboring gene STARR-seq mESC enhancer starr_04717 Neighboring gene STARR-seq mESC enhancer starr_04719 Neighboring gene predicted gene, 52515 Neighboring gene STARR-seq mESC enhancer starr_04722 Neighboring gene STARR-seq mESC enhancer starr_04727 Neighboring gene predicted gene, 39840 Neighboring gene nitric oxide synthase trafficker Neighboring gene SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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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    Related articles in PubMed

    1. CerS6-dependent ceramide synthesis in hypothalamic neurons promotes ER/mitochondrial stress and impairs glucose homeostasis in obese mice. Hammerschmidt P, et al. Nat Commun, 2023 Nov 29. PMID 38016943, Free PMC Article
    2. Ceramide synthase 6 impacts T-cell allogeneic response and graft-versus-host disease through regulating N-RAS/ERK pathway. Sofi MH, et al. Leukemia, 2022 Jul. PMID 35513703, Free PMC Article
    3. Ceramide Synthase 6 Deficiency Enhances Inflammation in the DSS model of Colitis. Helke K, et al. Sci Rep, 2018 Jan 26. PMID 29374263, Free PMC Article
    4. Adoptive Transfer of Ceramide Synthase 6 Deficient Splenocytes Reduces the Development of Colitis. Scheffel MJ, et al. Sci Rep, 2017 Nov 14. PMID 29138469, Free PMC Article
    5. 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. Jeon S, et al. Mol Metab, 2023 Dec. PMID 37714377, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    		  
    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
    		  
    involved_in inflammatory response 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 endoplasmic reticulum 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
    NP_766444.1
    XP_017173563.1

    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)

    1. 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

    2. 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

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      68691489..68944628
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017318074.1 → XP_017173563.1  ceramide synthase 6 isoform X1

      Conserved Domains (1) summary
      pfam03798
      Location:6 → 193
      TRAM_LAG1_CLN8; TLC domain

    RNA

    1. XR_374464.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C172.1 GenPept UniProtKB/Swiss-Prot:Q8C172

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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