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    Wdpcp WD repeat containing planar cell polarity effector [ Mus musculus (house mouse) ]

    Gene ID: 216560, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Wdpcpprovided by MGI
    Official Full Name
    WD repeat containing planar cell polarity effectorprovided by MGI
    Primary source
    MGI:MGI:2144467
    See related
    Ensembl:ENSMUSG00000020319 AllianceGenome:MGI:2144467
    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
    Frtz; homolog-13
    Summary
    Enables phosphatidylinositol binding activity. Acts upstream of or within several processes, including embryonic digit morphogenesis; podocyte cell migration; and sensory organ morphogenesis. Located in axonemal basal plate. Is expressed in several structures, including alimentary system epithelium; brain; musculoskeletal system; nose; and respiratory system. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 15 and congenital heart defects, hamartomas of tongue, and polysyndactyly. Orthologous to human WDPCP (WD repeat containing planar cell polarity effector). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in cerebellum adult (RPKM 9.9), testis adult (RPKM 7.2) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Wdpcp in Genome Data Viewer
    Location:
    11 A3.1; 11 13.9 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (21521969..21848686)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (21571969..21898687)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4932414J04 gene Neighboring gene STARR-positive B cell enhancer ABC_E6958 Neighboring gene STARR-seq mESC enhancer starr_28848 Neighboring gene STARR-seq mESC enhancer starr_28849 Neighboring gene malate dehydrogenase 1, NAD (soluble) Neighboring gene phosphoglycerate mutase 1, pseudogene 1 Neighboring gene STARR-seq mESC enhancer starr_28851 Neighboring gene STARR-seq mESC enhancer starr_28853 Neighboring gene myc induced nuclear antigen pseudogene Neighboring gene STARR-seq mESC enhancer starr_28854 Neighboring gene STARR-seq mESC enhancer starr_28855 Neighboring gene ribosomal protein L15, pseudogene 1 Neighboring gene ferritin light chain 1 pseudogene

    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
    • 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. Wdpcp regulates cellular proliferation and differentiation in the developing limb via hedgehog signaling. Langhans MT, et al. BMC Dev Biol, 2021 Jul 5. PMID 34225660, Free PMC Article
    2. Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Schmitt-John T, et al. Nat Genet, 2005 Nov. PMID 16244655
    3. Structure of the ciliogenesis-associated CPLANE complex. Langousis G, et al. Sci Adv, 2022 Apr 15. PMID 35427153, Free PMC Article
    4. ENU induced mutations causing congenital cardiovascular anomalies. Yu Q, et al. Development, 2004 Dec. PMID 15548583
    5. 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

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Wdpcp regulates cellular proliferation and differentiation in the developing limb via hedgehog signaling.
      Title: Wdpcp regulates cellular proliferation and differentiation in the developing limb via hedgehog signaling.
    2. Data suggest that the WD repeat containing planar cell polarity effector (Wdpcp) mutant mice will be a useful tool to dissect the molecular mechanisms that govern the remodeling of the primitive plexus during coronary development.
      Title: Wdpcp promotes epicardial EMT and epicardium-derived cell migration to facilitate coronary artery remodeling.
    3. Wdpcp is required for Sept2 recruitment to actin filaments.
      Title: Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within auditory receptor cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cilium organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cilium organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within circulatory system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within digestive system 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 embryonic organ development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in establishment of planar polarity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in establishment of protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within establishment of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intraciliary transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neural tube development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within podocyte cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cilium assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of embryonic cell shape ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within regulation of establishment of cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of fibroblast migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within regulation of ruffle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within respiratory system development 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 
    involved_in septin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within tongue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in axonemal basal plate IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axonemal basal plate IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    colocalizes_with cell cortex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cilium NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    colocalizes_with plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    WD repeat-containing and planar cell polarity effector protein fritz homolog
    Names
    WD repeat-containing protein C2orf86 homolog
    mFrtz

    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_001364768.1 → NP_001351697.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK043672, AK083042
      Conserved Domains (2) summary
      sd00039
      Location:231 → 266
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:1 → 512
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    2. NM_145425.3 → NP_663400.2  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 1

      See identical proteins and their annotated locations for NP_663400.2

      Status: VALIDATED

      Source sequence(s)
      AK083042
      Consensus CDS
      CCDS24467.1
      UniProtKB/Swiss-Prot
      Q8BRR5, Q8C456, Q91ZJ2
      UniProtKB/TrEMBL
      B1ATJ7
      Related
      ENSMUSP00000020568.4, ENSMUST00000020568.10
      Conserved Domains (2) summary
      sd00039
      Location:310 → 345
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:48 → 591
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      21521969..21848686
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514636.4 → XP_006514699.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

      See identical proteins and their annotated locations for XP_006514699.1

      Conserved Domains (2) summary
      sd00039
      Location:310 → 345
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:48 → 591
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    2. XM_030245786.2 → XP_030101646.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X7

      Conserved Domains (2) summary
      sd00039
      Location:310 → 345
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:48 → 591
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    3. XM_011243680.4 → XP_011241982.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

      See identical proteins and their annotated locations for XP_011241982.1

      Conserved Domains (2) summary
      sd00039
      Location:310 → 345
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:48 → 591
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    4. XM_017314434.3 → XP_017169923.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

      Conserved Domains (2) summary
      sd00039
      Location:310 → 345
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:48 → 591
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    5. XM_006514635.5 → XP_006514698.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

      See identical proteins and their annotated locations for XP_006514698.1

      Conserved Domains (2) summary
      sd00039
      Location:310 → 345
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:48 → 591
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    6. XM_036156519.1 → XP_036012412.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X4

      UniProtKB/Swiss-Prot
      Q8BRR5, Q8C456, Q91ZJ2
      UniProtKB/TrEMBL
      B1ATJ7
      Conserved Domains (2) summary
      sd00039
      Location:310 → 345
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:48 → 591
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    7. XM_006514631.5 → XP_006514694.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X1

      See identical proteins and their annotated locations for XP_006514694.1

      Conserved Domains (2) summary
      sd00039
      Location:332 → 367
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:70 → 613
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    8. XM_006514638.5 → XP_006514701.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X3

      Conserved Domains (2) summary
      sd00039
      Location:332 → 367
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:70 → 613
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    9. XM_017314435.3 → XP_017169924.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X6

      Conserved Domains (2) summary
      sd00039
      Location:332 → 367
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:70 → 613
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    10. XM_036156518.1 → XP_036012411.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

      Conserved Domains (2) summary
      sd00039
      Location:310 → 345
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:48 → 591
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    11. XM_030245783.2 → XP_030101643.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

      Conserved Domains (2) summary
      sd00039
      Location:310 → 345
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:48 → 591
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    12. XM_030245784.2 → XP_030101644.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X4

      UniProtKB/Swiss-Prot
      Q8BRR5, Q8C456, Q91ZJ2
      UniProtKB/TrEMBL
      B1ATJ7
      Conserved Domains (2) summary
      sd00039
      Location:310 → 345
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:48 → 591
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    13. XM_030245785.2 → XP_030101645.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X5

      Conserved Domains (2) summary
      sd00039
      Location:231 → 266
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:1 → 512
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    14. XM_006514632.5 → XP_006514695.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X1

      See identical proteins and their annotated locations for XP_006514695.1

      Conserved Domains (2) summary
      sd00039
      Location:332 → 367
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:70 → 613
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    15. XM_006514637.5 → XP_006514700.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

      See identical proteins and their annotated locations for XP_006514700.1

      Conserved Domains (2) summary
      sd00039
      Location:310 → 345
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:48 → 591
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    16. XM_036156520.1 → XP_036012413.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X5

      Conserved Domains (2) summary
      sd00039
      Location:231 → 266
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:1 → 512
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    17. XM_036156522.1 → XP_036012415.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X10

      Conserved Domains (2) summary
      sd00039
      Location:131 → 166
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:2 → 412
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    18. XM_030245787.2 → XP_030101647.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X10

      Conserved Domains (2) summary
      sd00039
      Location:131 → 166
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:2 → 412
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    19. XM_006514641.5 → XP_006514704.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X8

      Conserved Domains (2) summary
      sd00039
      Location:332 → 367
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:70 → 595
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    20. XM_036156521.1 → XP_036012414.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X9

      Conserved Domains (2) summary
      sd00039
      Location:332 → 367
      7WD40; WD40 repeat [structural motif]
      pfam11768
      Location:70 → 595
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C456.1 GenPept UniProtKB/Swiss-Prot:Q8C456

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