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    Cers3 ceramide synthase 3 [ Mus musculus (house mouse) ]

    Gene ID: 545975, updated on 27-Nov-2024

    Summary

    Official Symbol
    Cers3provided by MGI
    Official Full Name
    ceramide synthase 3provided by MGI
    Primary source
    MGI:MGI:2681008
    See related
    Ensembl:ENSMUSG00000030510 AllianceGenome:MGI:2681008
    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
    T3L; Gm488; Lass3; mCerS3; 4930550L11Rik
    Summary
    Enables sphingosine N-acyltransferase activity. Involved in ceramide biosynthetic process and cornification. Acts upstream of or within sphingolipid biosynthetic process. Located in endoplasmic reticulum. Is expressed in epidermis; epidermis granular layer; epidermis spinous layer; face skin; and skin. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 9. Orthologous to human CERS3 (ceramide synthase 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in bladder adult (RPKM 14.7), testis adult (RPKM 13.6) and 3 other tissues See more
    Orthologs
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    Genomic context

    See Cers3 in Genome Data Viewer
    Location:
    7 C; 7 36.15 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (66382864..66473440)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (66733118..66823692)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 33570 Neighboring gene STARR-seq mESC enhancer starr_19090 Neighboring gene STARR-positive B cell enhancer ABC_E11356 Neighboring gene STARR-positive B cell enhancer ABC_E1735 Neighboring gene ankyrin repeat and SOCS box-containing 7 Neighboring gene lines homolog 1 Neighboring gene STARR-seq mESC enhancer starr_19091 Neighboring gene predicted gene, 33627 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 17 Neighboring gene predicted gene, 51511

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1)  1 citation

    Pathways from PubChem

    General protein information

    Preferred Names
    ceramide synthase 3
    Names
    LAG1 homolog, ceramide synthase 3
    LAG1 longevity assurance homolog 3
    dihydroceramide synthase 3
    longevity assurance homolog 3
    related to TRH3
    sphingosine N-acyltransferase CERS3
    ultra-long-chain ceramide synthase CERS3
    very-long-chain ceramide synthase CERS3
    NP_001157673.1
    XP_006541064.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001164201.1NP_001157673.1  ceramide synthase 3

      Status: VALIDATED

      Source sequence(s)
      AC120791
      Consensus CDS
      CCDS52268.1
      UniProtKB/Swiss-Prot
      E9PVY9, Q195J4, Q1A3B0
      Related
      ENSMUSP00000069238.9, ENSMUST00000066475.11
      Conserved Domains (2) summary
      cd00086
      Location:107161
      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:167360
      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_000073.7 Reference GRCm39 C57BL/6J

      Range
      66382864..66473440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006541001.5XP_006541064.1  ceramide synthase 3 isoform X1

      See identical proteins and their annotated locations for XP_006541064.1

      UniProtKB/Swiss-Prot
      E9PVY9, Q195J4, Q1A3B0
      Conserved Domains (2) summary
      cd00086
      Location:74128
      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:134327
      TRAM_LAG1_CLN8; TLC domain