InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: WDPCP

Summary

InnateDB Protein

IDBP-293041.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

WDPCP

Protein Name

WD repeat containing planar cell polarity effector

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000387222

InnateDB Gene

IDBG-53680 (WDPCP)

Protein Structure

UniProt Annotation

Function

Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. {ECO:0000250}.

Subcellular Localization

Cell membrane {ECO:0000250}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}.

Disease Associations

Bardet-Biedl syndrome 15 (BBS15) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269PubMed:20671153}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Mutations in WDPCP may act as modifiers of the phenotypic expression of Bardet-Biedl syndrome and Meckel syndrome by interacting in trans with primary BBS and MKS loci. {ECO:0000269PubMed:20671153}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0016476	regulation of embryonic cell shape
GO:0032185	septin cytoskeleton organization
GO:0032880	regulation of protein localization
GO:0060271	cilium morphogenesis