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

Gene ID: 216560, updated on 2-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 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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