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    Cplane1 ciliogenesis and planar polarity effector 1 [ Mus musculus (house mouse) ]

    Gene ID: 73692, updated on 31-Jan-2019

    Summary

    Official Symbol
    Cplane1provided by MGI
    Official Full Name
    ciliogenesis and planar polarity effector 1provided by MGI
    Primary source
    MGI:MGI:1920942
    See related
    Ensembl:ENSMUSG00000039801
    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
    Hug; Jbts17; b2b012Clo; 2410089E03Rik; 4732468D17Rik
    Expression
    Broad expression in CNS E18 (RPKM 7.5), testis adult (RPKM 7.0) and 21 other tissues See more
    Orthologs

    Genomic context

    See Cplane1 in Genome Data Viewer
    Location:
    15; 15 A1
    Exon count:
    54
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 15 NC_000081.6 (8169026..8271158)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 15 NC_000081.5 (8119106..8221158)

    Chromosome 15 - NC_000081.6Genomic Context describing neighboring genes Neighboring gene WD repeat domain 70 Neighboring gene ribosomal protein L19, pseudogene 6 Neighboring gene nucleoporin 155 Neighboring gene 40S ribosomal protein S21 pseudogene Neighboring gene predicted gene, 41265 Neighboring gene NIPBL cohesin loading factor Neighboring gene uncharacterized LOC102634078 Neighboring gene predicted gene, 31282

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (2) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    cardiac septum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    cerebellum development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cerebellum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    coronary vasculature development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    coronary vasculature development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic digit morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment of planar polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    establishment of planar polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    kidney development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein localization to ciliary transition zone IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    roof of mouth development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ventricular septum development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ventricular septum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ciliogenesis and planar polarity effector 1; uncharacterized protein C5orf42 homolog
    Names
    protein C5orf42 homolog
    protein JBTS17
    transmembrane protein ENSP00000382582 homolog

    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.

    mRNA and Protein(s)

    1. NM_001162906.1NP_001156378.1  ciliogenesis and planar polarity effector 1

      See identical proteins and their annotated locations for NP_001156378.1

      Status: VALIDATED

      Source sequence(s)
      AC107747, AK028897, BC058107, BE952071, CA752449, CF540306, CN536226
      Consensus CDS
      CCDS49578.1
      UniProtKB/Swiss-Prot
      Q8CE72
      Related
      ENSMUSP00000106247.1, ENSMUST00000110617.1
      Conserved Domains (1) summary
      pfam15392
      Location:28943204
      Joubert; Joubert syndrome-associated

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000081.6 Reference GRCm38.p4 C57BL/6J

      Range
      8169026..8271158
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011245335.1XP_011243637.1  uncharacterized protein C5orf42 homolog isoform X1

      See identical proteins and their annotated locations for XP_011243637.1

      Conserved Domains (1) summary
      pfam15392
      Location:29203230
      Joubert; Joubert syndrome-associated
    2. XM_006519999.2XP_006520062.1  uncharacterized protein C5orf42 homolog isoform X3

      Conserved Domains (1) summary
      pfam15392
      Location:28963206
      Joubert; Joubert syndrome-associated
    3. XM_006520000.2XP_006520063.1  uncharacterized protein C5orf42 homolog isoform X4

      Conserved Domains (1) summary
      pfam15392
      Location:28643174
      Joubert; Joubert syndrome-associated
    4. XM_006519998.2XP_006520061.1  uncharacterized protein C5orf42 homolog isoform X2

      Conserved Domains (1) summary
      pfam15392
      Location:29193229
      Joubert; Joubert syndrome-associated
    5. XM_006519997.2XP_006520060.1  uncharacterized protein C5orf42 homolog isoform X1

      See identical proteins and their annotated locations for XP_006520060.1

      Conserved Domains (1) summary
      pfam15392
      Location:29203230
      Joubert; Joubert syndrome-associated
    6. XM_006520001.2XP_006520064.1  uncharacterized protein C5orf42 homolog isoform X5

      See identical proteins and their annotated locations for XP_006520064.1

      Conserved Domains (1) summary
      pfam15392
      Location:25022812
      Joubert; Joubert syndrome-associated
    7. XM_006520002.2XP_006520065.1  uncharacterized protein C5orf42 homolog isoform X5

      See identical proteins and their annotated locations for XP_006520065.1

      Conserved Domains (1) summary
      pfam15392
      Location:25022812
      Joubert; Joubert syndrome-associated
    8. XM_011245336.2XP_011243638.1  uncharacterized protein C5orf42 homolog isoform X5

      See identical proteins and their annotated locations for XP_011243638.1

      Conserved Domains (1) summary
      pfam15392
      Location:25022812
      Joubert; Joubert syndrome-associated
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