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    CERS3 ceramide synthase 3 [ Homo sapiens (human) ]

    Gene ID: 204219, updated on 12-Aug-2018

    Summary

    Official Symbol
    CERS3provided by HGNC
    Official Full Name
    ceramide synthase 3provided by HGNC
    Primary source
    HGNC:HGNC:23752
    See related
    Ensembl:ENSG00000154227 MIM:615276; Vega:OTTHUMG00000172568
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARCI9; LASS3
    Summary
    This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
    Expression
    Biased expression in skin (RPKM 15.5), esophagus (RPKM 13.5) and 1 other tissue See more
    Orthologs

    Genomic context

    See CERS3 in Genome Data Viewer
    Location:
    15q26.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (100400395..100544982, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (100940600..101084925, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 17 Neighboring gene uncharacterized LOC107984740 Neighboring gene uncharacterized LOC105371021 Neighboring gene spermatogenesis associated 41 Neighboring gene CERS3 antisense RNA 1 Neighboring gene uncharacterized LOC102723335 Neighboring gene RNA, U6 small nuclear 322, pseudogene Neighboring gene PRKX pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates the expression of ceramide synthase 3 (CERS3) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC27091

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific ISM
    Inferred from Sequence Model
    more info
    PubMed 
    sphingosine N-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sphingosine N-acyltransferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ceramide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    keratinocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    sphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ceramide synthase 3
    Names
    LAG1 homolog, ceramide synthase 3
    LAG1 longevity assurance homolog 3
    dihydroceramide synthase 3
    NP_001277270.1
    NP_001277271.1
    NP_001277272.1
    NP_849164.2
    XP_011519657.1
    XP_011519659.1
    XP_011519660.1
    XP_016877491.1
    XP_016877492.1
    XP_016877493.1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_042826.1 RefSeqGene

      Range
      5001..149326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001290341.2NP_001277270.1  ceramide synthase 3 isoform 1

      See identical proteins and their annotated locations for NP_001277270.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC015723, AC027020, BC027616, BC034500, HY237628
      UniProtKB/Swiss-Prot
      Q8IU89
      Conserved Domains (2) summary
      cd00086
      Location:93139
      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:142335
      TRAM_LAG1_CLN8; TLC domain
    2. NM_001290342.2NP_001277271.1  ceramide synthase 3 isoform 2

      See identical proteins and their annotated locations for NP_001277271.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 2, 3 and 4 encode the same isoform (2), which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC015723, AC027020, BC028703, BC034500, BC034970, HY022150, HY022670
      Consensus CDS
      CCDS10384.1
      UniProtKB/Swiss-Prot
      Q8IU89
      Related
      ENSP00000437640.2, OTTHUMP00000248025, ENST00000538112.6, OTTHUMT00000417698
      Conserved Domains (2) summary
      cd00086
      Location:82128
      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:131324
      TRAM_LAG1_CLN8; TLC domain
    3. NM_001290343.1NP_001277272.1  ceramide synthase 3 isoform 2

      See identical proteins and their annotated locations for NP_001277272.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 2, 3 and 4 encode the same isoform (2), which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC015723, AC027020, BC034500, BC034970
      Consensus CDS
      CCDS10384.1
      UniProtKB/Swiss-Prot
      Q8IU89
      Conserved Domains (2) summary
      cd00086
      Location:82128
      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:131324
      TRAM_LAG1_CLN8; TLC domain
    4. NM_178842.4NP_849164.2  ceramide synthase 3 isoform 2

      See identical proteins and their annotated locations for NP_849164.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 2, 3 and 4 encode the same isoform (2), which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC015723, AC027020, BC034500, BC034970
      Consensus CDS
      CCDS10384.1
      UniProtKB/Swiss-Prot
      Q8IU89
      Related
      ENSP00000284382.4, OTTHUMP00000194816, ENST00000284382.8, OTTHUMT00000313593
      Conserved Domains (2) summary
      cd00086
      Location:82128
      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:131324
      TRAM_LAG1_CLN8; TLC domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

      Range
      100400395..100544982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022004.1XP_016877493.1  ceramide synthase 3 isoform X2

      UniProtKB/Swiss-Prot
      Q8IU89
      Conserved Domains (2) summary
      cd00086
      Location:82128
      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:131324
      TRAM_LAG1_CLN8; TLC domain
    2. XM_017022003.1XP_016877492.1  ceramide synthase 3 isoform X2

      UniProtKB/Swiss-Prot
      Q8IU89
      Conserved Domains (2) summary
      cd00086
      Location:82128
      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:131324
      TRAM_LAG1_CLN8; TLC domain
    3. XM_011521357.2XP_011519659.1  ceramide synthase 3 isoform X1

      See identical proteins and their annotated locations for XP_011519659.1

      Conserved Domains (2) summary
      cd00086
      Location:93139
      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:142335
      TRAM_LAG1_CLN8; TLC domain
    4. XM_011521355.2XP_011519657.1  ceramide synthase 3 isoform X1

      See identical proteins and their annotated locations for XP_011519657.1

      Conserved Domains (2) summary
      cd00086
      Location:93139
      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:142335
      TRAM_LAG1_CLN8; TLC domain
    5. XM_011521358.1XP_011519660.1  ceramide synthase 3 isoform X1

      See identical proteins and their annotated locations for XP_011519660.1

      Conserved Domains (2) summary
      cd00086
      Location:93139
      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:142335
      TRAM_LAG1_CLN8; TLC domain
    6. XM_017022002.1XP_016877491.1  ceramide synthase 3 isoform X1

      Conserved Domains (2) summary
      cd00086
      Location:93139
      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:142335
      TRAM_LAG1_CLN8; TLC domain
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