WDPCP
WD repeat-containing and planar cell polarity effector protein fritz homolog
Also known as: BBS15, C2orf86, CPLANE5, fritz, FRITZ_HUMAN, hFrtz
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O95876
- Gene
- WDPCP
- Ensembl
- ENSG00000143951
- Chromosome
- 2
- Canonical length
- 746 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nuclear bodies,Endoplasmic reticulum,Flagellar centriole
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
746 residues, UniProt reviewed canonical sequence.
>O95876|WDPCP
1 MRREFCWDAY SKAAGSRASS PLPRQDRDSF CHQMSFCLTE LHLWSLKNTL HIADRDIGIY
61 QYYDKKDPPA TEHGNLEKKQ KLAESRDYPW TLKNRRPEKL RDSLKELEEL MQNSRCVLSK
121 WKNKYVCQLL FGSGVLVSLS LSGPQLEKVV IDRSLVGKLI SDTISDALLT DSFIILSFLA
181 QNKLCFIQFT KKMESSDVNK RLEKLSALDY KIFYYEIPGP INKTTERHLA INCVHDRVVC
241 WWPLVNDDAW PWAPISSEKD RANLLLLGYA QGRLEVLSSV RTEWDPLDVR FGTKQPYQVF
301 TVEHSVSVDK EPMADSCIYE CIRNKIQCVS VTRIPLKSKA ISCCRNVTED KLILGCEDSS
361 LILYETHRRV TLLAQTELLP SLISCHPSGA ILLVGSNQGE LQIFDMALSP INIQLLAEDR
421 LPRETLQFSK LFDASSSLVQ MQWIAPQVVS QKGEGSDIYD LLFLRFERGP LGVLLFKLGV
481 FTRGQLGLID IIFQYIHCDE IYEAINILSS MNWDTLGHQC FISMSAIVNH LLRQKLTPER
541 EAQLETSLGT FYAPTRPLLD STILEYRDQI SKYARRFFHH LLRYQRFEKA FLLAVDVGAR
601 DLFMDIHYLA LDKGELALAE VARKRASDID AESITSGVEL LGPLDRGDML NEAFIGLSLA
661 PQGEDSFPDN LPPSCPTHRH ILQQRILNGS SNRQIIDRRN ELEKDICSGF LMTNTCNAED
721 GELREDGREQ EIRDGGSLKM IHFGLVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against WDPCP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 11 nTPM
Expression across tissuesHPA
Tissue
- retina: 11 nTPM
- bone marrow: 6.9 nTPM
- skeletal muscle: 4.7 nTPM
- heart muscle: 4.5 nTPM
- testis: 4.4 nTPM
- adipose tissue: 4.3 nTPM
Single-cell type
- adipocytes: 2,893 nCPM
- cardiomyocytes: 2,295 nCPM
- myonuclei: 949 nCPM
- respiratory ciliated cells: 622 nCPM
- mesothelial cells: 565 nCPM
- choroid plexus epithelial cells: 514 nCPM
Immune cell
- basophil: 6.7 nTPM
- NK-cell: 3.9 nTPM
- MAIT T-cell: 3.7 nTPM
- naive CD8 T-cell: 3.6 nTPM
- naive B-cell: 3.2 nTPM
- classical monocyte: 2.8 nTPM
Brain region
- white matter: 88 nTPM
- cerebellum: 85 nTPM
- cerebral cortex: 81 nTPM
- basal ganglia: 74 nTPM
- pons: 70 nTPM
- hippocampal formation: 67 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about WDPCP.
Disease | AllUniProt
Conditions WDPCP is implicated in, by any mechanism.
- Bardet-Biedl syndrome 15 (BBS15) MIM:615992
- Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP) MIM:217085
Disease | GeneticClinVar
50 pathogenic / likely-pathogenic of 781 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Bardet-Biedl syndrome
- Heart defect - tongue hamartoma - polysyndactyly syndrome
- Bardet-Biedl syndrome 15
- WDPCP-related disorder
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.78
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.9
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- auditory receptor cell morphogenesis
- camera-type eye development
- cilium assembly
- cilium organization
- circulatory system development
- digestive system development
- embryonic digit morphogenesis
- establishment of planar polarity
- establishment of protein localization
- intraciliary transport
- kidney development
- nervous system development
- neural tube development
- podocyte cell migration
- regulation of cilium assembly
- regulation of embryonic cell shape
- regulation of establishment of cell polarity
- regulation of fibroblast migration
- regulation of focal adhesion assembly
- regulation of protein localization
- regulation of ruffle assembly
- respiratory system development
- roof of mouth development
- septin cytoskeleton organization
- smoothened signaling pathway
- tongue morphogenesis
Molecular functions
Cellular components
- axoneme
- cilium
- plasma membrane
- axonemal basal plate
Protein domainsUniProt · Pfam · InterPro
- WD40/YVTN repeat-like-containing domain superfamily
- WD40-repeat-containing domain superfamily
- WD repeat-containing and planar cell polarity effector protein Fritz
- WD repeat-containing and planar cell polarity effector protein Fritz
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of WDPCP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads WDPCP as an antibody target. Whether an autoantibody or antibody against WDPCP could matter depends on whether native WDPCP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
WDPCP is annotated at the cell surface, where native WDPCP is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label WDPCP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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