Wd repeat containing planar cell polarity effector

WD repeat containing planar cell polarity effector is a protein that in humans is encoded by the WDPCP gene. [5]

WDPCP
Identifiers
AliasesWDPCP, BBS15, C2orf86, FRITZ, FRTZ, CHDTHP, WD repeat containing planar cell polarity effector, CPLANE5
External IDsOMIM: 613580; MGI: 2144467; HomoloGene: 9299; GeneCards: WDPCP; OMA:WDPCP - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001042692
NM_015910
NM_001354044
NM_001354045

NM_145425
NM_001364768

RefSeq (protein)

NP_001036157
NP_056994
NP_001340973
NP_001340974

NP_663400
NP_001351697

Location (UCSC)Chr 2: 63.12 – 63.83 MbChr 11: 21.52 – 21.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143951Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020319Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: WD repeat containing planar cell polarity effector". Retrieved 2017-06-07.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.