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

Gene ID: 545975, updated on 9-Dec-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, Dec 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 gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding  
enables sphingosine N-acyltransferase activity  
enables sphingosine N-acyltransferase activity PubMed 
enables sphingosine N-acyltransferase activity  
Component Evidence Code Pubs
located_in endoplasmic reticulum PubMed 
located_in endoplasmic reticulum membrane  

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)

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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_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
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