| UniProt Protein Function: | LOC51057: Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Defects in WDPCP are the cause of Bardet-Biedl syndrome type 15 (BBS15). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder 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. 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. Belongs to the WD repeat fritz family. 3 isoforms of the human protein are produced by alternative splicing.Chromosomal Location of Human Ortholog: 2p15Cellular Component: apical plasma membrane; axoneme; cell cortex; plasma membraneBiological Process: regulation of protein localization; septin cytoskeleton organization and biogenesis; shape changes of embryonic cellsDisease: Bardet-biedl Syndrome 15; Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
| UniProt Protein Details: | |
| NCBI Summary: | 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. [provided by RefSeq, Jun 2014] |
| UniProt Code: | O95876 |
| NCBI GenInfo Identifier: | 172047300 |
| NCBI Gene ID: | 51057 |
| NCBI Accession: | O95876.2 |
| UniProt Secondary Accession: | O95876,Q53RW4, Q7Z2Z3 |
| UniProt Related Accession: | O95876 |
| Molecular Weight: | 66,655 Da |
| NCBI Full Name: | WD repeat-containing and planar cell polarity effector protein fritz homolog |
| NCBI Synonym Full Names: | WD repeat containing planar cell polarity effector |
| NCBI Official Symbol: | WDPCPÂ Â |
| NCBI Official Synonym Symbols: | FRTZ; BBS15; FRITZ; CHDTHP; C2orf86Â Â |
| NCBI Protein Information: | WD repeat-containing and planar cell polarity effector protein fritz homolog |
| UniProt Protein Name: | WD repeat-containing and planar cell polarity effector protein fritz homolog |
| UniProt Synonym Protein Names: | Bardet-Biedl syndrome 15 protein; WD repeat-containing and planar cell polarity effector protein |
| Protein Family: | WD repeat-containing and planar cell polarity effector protein |
| UniProt Gene Name: | WDPCPÂ Â |
| UniProt Entry Name: | FRITZ_HUMAN |
