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

Gene ID: 73692, updated on 2-Nov-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, Nov 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

Expression

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  • Project title: Mouse ENCODE transcriptome data 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

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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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