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

    Gene ID: 73692, updated on 9-Dec-2024

    Summary

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    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 AllianceGenome:MGI:1920942
    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
    Summary
    Acts upstream of or within several processes, including embryonic digit morphogenesis; heart development; and protein localization to ciliary transition zone. Located in ciliary transition zone. Used to study Joubert syndrome 17. Human ortholog(s) of this gene implicated in Joubert syndrome 17 and Joubert syndrome with orofaciodigital defect. Orthologous to human CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in CNS E18 (RPKM 7.5), testis adult (RPKM 7.0) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cplane1 in Genome Data Viewer
    Location:
    15 A1; 15 3.82 cM
    Exon count:
    54
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (8198509..8300642)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (8169025..8271158)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene WD repeat domain 70 Neighboring gene STARR-seq mESC enhancer starr_37887 Neighboring gene ribosomal protein L19, pseudogene 6 Neighboring gene STARR-positive B cell enhancer mm9_chr15:8047913-8048213 Neighboring gene STARR-seq mESC enhancer starr_37890 Neighboring gene STARR-seq mESC enhancer starr_37891 Neighboring gene STARR-seq mESC enhancer starr_37892 Neighboring gene nucleoporin 155 Neighboring gene STARR-seq mESC enhancer starr_37894 Neighboring gene STARR-seq mESC enhancer starr_37895 Neighboring gene predicted gene, 46494 Neighboring gene STARR-seq mESC enhancer starr_37896 Neighboring gene STARR-seq mESC enhancer starr_37897 Neighboring gene predicted gene, 24144 Neighboring gene predicted gene, 41265 Neighboring gene NIPBL cohesin loading factor Neighboring gene uncharacterized LOC102634078 Neighboring gene STARR-seq mESC enhancer starr_37899 Neighboring gene STARR-positive B cell enhancer ABC_E2437 Neighboring gene STARR-seq mESC enhancer starr_37901 Neighboring gene predicted gene, 31282

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. Damerla RR, et al. Hum Mol Genet, 2015 Jul 15. PMID 25877302, Free PMC Article
    2. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Toriyama M, et al. Nat Genet, 2016 Jun. PMID 27158779, Free PMC Article
    3. Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Li Y, et al. Nature, 2015 May 28. PMID 25807483, Free PMC Article
    4. Chemical Crosslinking Mass Spectrometry Analysis of Protein Conformations and Supercomplexes in Heart Tissue. Chavez JD, et al. Cell Syst, 2018 Jan 24. PMID 29199018, Free PMC Article
    5. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Sang L, et al. Cell, 2011 May 13. PMID 21565611, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cardiac septum development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cerebellum development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within coronary vasculature development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within establishment of planar polarity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization to ciliary transition zone IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within ventricular septum development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    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_001162906.2 → NP_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, AC158971
      Consensus CDS
      CCDS49578.1
      UniProtKB/Swiss-Prot
      E9QL36, Q3UXY6, Q6PEE0, Q8CE72
      Related
      ENSMUSP00000106247.2, ENSMUST00000110617.2
      Conserved Domains (1) summary
      pfam15392
      Location:2894 → 3204
      Joubert; Joubert syndrome-associated

    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_000081.7 Reference GRCm39 C57BL/6J

      Range
      8198509..8300642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006519999.4 → XP_006520062.1  ciliogenesis and planar polarity effector 1 isoform X3

      Conserved Domains (1) summary
      pfam15392
      Location:2896 → 3206
      Joubert; Joubert syndrome-associated

    2. XM_006520000.4 → XP_006520063.1  ciliogenesis and planar polarity effector 1 isoform X5

      Conserved Domains (1) summary
      pfam15392
      Location:2864 → 3174
      Joubert; Joubert syndrome-associated

    3. XM_030248795.2 → XP_030104655.1  ciliogenesis and planar polarity effector 1 isoform X6

      Conserved Domains (1) summary
      pfam15392
      Location:2838 → 3148
      Joubert; Joubert syndrome-associated

    4. XM_006519998.4 → XP_006520061.1  ciliogenesis and planar polarity effector 1 isoform X2

      Conserved Domains (1) summary
      pfam15392
      Location:2919 → 3229
      Joubert; Joubert syndrome-associated

    5. XM_036159618.1 → XP_036015511.1  ciliogenesis and planar polarity effector 1 isoform X4

      Conserved Domains (1) summary
      pfam15392
      Location:2900 → 3203
      Joubert; Joubert syndrome-associated

    6. XM_030248797.2 → XP_030104657.1  ciliogenesis and planar polarity effector 1 isoform X7

      Conserved Domains (1) summary
      pfam15392
      Location:2509 → 2812
      Joubert; Joubert syndrome-associated

    7. XM_006520001.4 → XP_006520064.1  ciliogenesis and planar polarity effector 1 isoform X7

      See identical proteins and their annotated locations for XP_006520064.1

      Conserved Domains (1) summary
      pfam15392
      Location:2509 → 2812
      Joubert; Joubert syndrome-associated

    8. XM_006520002.4 → XP_006520065.1  ciliogenesis and planar polarity effector 1 isoform X7

      See identical proteins and their annotated locations for XP_006520065.1

      Conserved Domains (1) summary
      pfam15392
      Location:2509 → 2812
      Joubert; Joubert syndrome-associated

    9. XM_011245336.4 → XP_011243638.1  ciliogenesis and planar polarity effector 1 isoform X7

      See identical proteins and their annotated locations for XP_011243638.1

      Conserved Domains (1) summary
      pfam15392
      Location:2509 → 2812
      Joubert; Joubert syndrome-associated

    10. XM_011245335.3 → XP_011243637.1  ciliogenesis and planar polarity effector 1 isoform X1

      See identical proteins and their annotated locations for XP_011243637.1

      Conserved Domains (1) summary
      pfam15392
      Location:2927 → 3230
      Joubert; Joubert syndrome-associated

    11. XM_030248798.2 → XP_030104658.1  ciliogenesis and planar polarity effector 1 isoform X7

      Conserved Domains (1) summary
      pfam15392
      Location:2509 → 2812
      Joubert; Joubert syndrome-associated

    12. XM_030248799.2 → XP_030104659.1  ciliogenesis and planar polarity effector 1 isoform X7

      Conserved Domains (1) summary
      pfam15392
      Location:2509 → 2812
      Joubert; Joubert syndrome-associated

    13. XM_030248796.2 → XP_030104656.1  ciliogenesis and planar polarity effector 1 isoform X7

      Conserved Domains (1) summary
      pfam15392
      Location:2509 → 2812
      Joubert; Joubert syndrome-associated

    14. XM_036159619.1 → XP_036015512.1  ciliogenesis and planar polarity effector 1 isoform X7

      Conserved Domains (1) summary
      pfam15392
      Location:2509 → 2812
      Joubert; Joubert syndrome-associated

    15. XM_006519997.4 → XP_006520060.1  ciliogenesis and planar polarity effector 1 isoform X1

      See identical proteins and their annotated locations for XP_006520060.1

      Conserved Domains (1) summary
      pfam15392
      Location:2927 → 3230
      Joubert; Joubert syndrome-associated

    16. XM_030248801.2 → XP_030104661.1  ciliogenesis and planar polarity effector 1 isoform X7

      Conserved Domains (1) summary
      pfam15392
      Location:2509 → 2812
      Joubert; Joubert syndrome-associated

    17. XM_036159616.1 → XP_036015509.1  ciliogenesis and planar polarity effector 1 isoform X1

      Conserved Domains (1) summary
      pfam15392
      Location:2927 → 3230
      Joubert; Joubert syndrome-associated

    18. XM_036159617.1 → XP_036015510.1  ciliogenesis and planar polarity effector 1 isoform X1

      Conserved Domains (1) summary
      pfam15392
      Location:2927 → 3230
      Joubert; Joubert syndrome-associated

    RNA

    1. XR_004938875.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CE72.4 GenPept UniProtKB/Swiss-Prot:Q8CE72

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