UniProtKB - O95876 (FRITZ_HUMAN)
Protein
WD repeat-containing and planar cell polarity effector protein fritz homolog
Gene
WDPCP
Organism
Homo sapiens (Human)
Status
Functioni
Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Together with FUZ and WDPCP proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (By similarity).By similarity
Caution
It is uncertain whether Met-1 or Met-34 is the initiator.Curated
GO - Biological processi
- auditory receptor cell morphogenesis Source: Ensembl
- camera-type eye development Source: Ensembl
- cilium assembly Source: UniProtKB
- digestive system development Source: Ensembl
- embryonic digit morphogenesis Source: GO_Central
- establishment of protein localization Source: GO_Central
- glomerular visceral epithelial cell migration Source: Ensembl
- kidney development Source: Ensembl
- regulation of embryonic cell shape Source: UniProtKB
- regulation of establishment of cell polarity Source: Ensembl
- regulation of fibroblast migration Source: Ensembl
- regulation of focal adhesion assembly Source: Ensembl
- regulation of protein localization Source: UniProtKB
- regulation of ruffle assembly Source: Ensembl
- respiratory system development Source: Ensembl
- roof of mouth development Source: GO_Central
- septin cytoskeleton organization Source: UniProtKB
- smoothened signaling pathway Source: Ensembl
- tongue morphogenesis Source: GO_Central
Keywordsi
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
PathwayCommonsi | O95876 |
Names & Taxonomyi
Protein namesi | Recommended name: WD repeat-containing and planar cell polarity effector protein fritz homologShort name: hFRTZ Alternative name(s): Bardet-Biedl syndrome 15 protein WD repeat-containing and planar cell polarity effector protein |
Gene namesi | Name:WDPCP Synonyms:BBS15, C2orf86, FRITZ |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000143951.15 |
HGNCi | HGNC:28027, WDPCP |
MIMi | 613580, gene |
neXtProti | NX_O95876 |
Subcellular locationi
Cytoskeleton
- cilium axoneme By similarity
- cilium basal body By similarity
Plasma membrane
- Cell membrane By similarity
Cytoskeleton
- axonemal basal plate Source: Ensembl
- axoneme Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, MembranePathology & Biotechi
Involvement in diseasei
Bardet-Biedl syndrome 15 (BBS15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMCongenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073251 | 54 | D → N in CHDTHP; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs200322968EnsemblClinVar. | 1 |
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.1 Publication
Keywords - Diseasei
Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, ObesityOrganism-specific databases
DisGeNETi | 51057 |
GeneReviewsi | WDPCP |
MalaCardsi | WDPCP |
MIMi | 217085, phenotype 615992, phenotype |
OpenTargetsi | ENSG00000143951 |
Orphaneti | 110, Bardet-Biedl syndrome 1338, Heart defect-tongue hamartoma-polysyndactyly syndrome 564, Meckel syndrome |
PharmGKBi | PA164717186 |
Miscellaneous databases
Pharosi | O95876, Tbio |
Polymorphism and mutation databases
BioMutai | WDPCP |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000325802 | 1 – 746 | WD repeat-containing and planar cell polarity effector protein fritz homologAdd BLAST | 746 |
Proteomic databases
jPOSTi | O95876 |
MassIVEi | O95876 |
PaxDbi | O95876 |
PeptideAtlasi | O95876 |
PRIDEi | O95876 |
ProteomicsDBi | 51114 [O95876-1] 51115 [O95876-2] 51116 [O95876-3] |
PTM databases
iPTMneti | O95876 |
PhosphoSitePlusi | O95876 |
Expressioni
Gene expression databases
Bgeei | ENSG00000143951, Expressed in nasal cavity epithelium and 221 other tissues |
ExpressionAtlasi | O95876, baseline and differential |
Genevisiblei | O95876, HS |
Organism-specific databases
HPAi | ENSG00000143951, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with CPLANE1.
Interacts with INTU and FUZ; FUZ, INTU and WDPCP probably form the core CPLANE (ciliogenesis and planar polarity effectors) complex.
By similarityProtein-protein interaction databases
BioGRIDi | 119249, 1 interactor |
ComplexPortali | CPX-5001, CPLANE complex |
IntActi | O95876, 1 interactor |
STRINGi | 9606.ENSP00000272321 |
Miscellaneous databases
RNActi | O95876, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 326 – 374 | WD 1Add BLAST | 49 | |
Repeati | 375 – 414 | WD 2Add BLAST | 40 |
Sequence similaritiesi
Belongs to the WD repeat fritz family.Curated
Keywords - Domaini
Repeat, WD repeatPhylogenomic databases
eggNOGi | ENOG502QR8Y, Eukaryota |
GeneTreei | ENSGT00390000016551 |
HOGENOMi | CLU_004917_1_0_1 |
InParanoidi | O95876 |
OMAi | CVYECAR |
OrthoDBi | 692945at2759 |
PhylomeDBi | O95876 |
TreeFami | TF323483 |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
InterProi | View protein in InterPro IPR024511, Frtz IPR015943, WD40/YVTN_repeat-like_dom_sf IPR036322, WD40_repeat_dom_sf |
PANTHERi | PTHR13667, PTHR13667, 1 hit |
Pfami | View protein in Pfam PF11768, Frtz, 1 hit |
SUPFAMi | SSF50978, SSF50978, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: O95876-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MRREFCWDAY SKAAGSRASS PLPRQDRDSF CHQMSFCLTE LHLWSLKNTL
60 70 80 90 100
HIADRDIGIY QYYDKKDPPA TEHGNLEKKQ KLAESRDYPW TLKNRRPEKL
110 120 130 140 150
RDSLKELEEL MQNSRCVLSK WKNKYVCQLL FGSGVLVSLS LSGPQLEKVV
160 170 180 190 200
IDRSLVGKLI SDTISDALLT DSFIILSFLA QNKLCFIQFT KKMESSDVNK
210 220 230 240 250
RLEKLSALDY KIFYYEIPGP INKTTERHLA INCVHDRVVC WWPLVNDDAW
260 270 280 290 300
PWAPISSEKD RANLLLLGYA QGRLEVLSSV RTEWDPLDVR FGTKQPYQVF
310 320 330 340 350
TVEHSVSVDK EPMADSCIYE CIRNKIQCVS VTRIPLKSKA ISCCRNVTED
360 370 380 390 400
KLILGCEDSS LILYETHRRV TLLAQTELLP SLISCHPSGA ILLVGSNQGE
410 420 430 440 450
LQIFDMALSP INIQLLAEDR LPRETLQFSK LFDASSSLVQ MQWIAPQVVS
460 470 480 490 500
QKGEGSDIYD LLFLRFERGP LGVLLFKLGV FTRGQLGLID IIFQYIHCDE
510 520 530 540 550
IYEAINILSS MNWDTLGHQC FISMSAIVNH LLRQKLTPER EAQLETSLGT
560 570 580 590 600
FYAPTRPLLD STILEYRDQI SKYARRFFHH LLRYQRFEKA FLLAVDVGAR
610 620 630 640 650
DLFMDIHYLA LDKGELALAE VARKRASDID AESITSGVEL LGPLDRGDML
660 670 680 690 700
NEAFIGLSLA PQGEDSFPDN LPPSCPTHRH ILQQRILNGS SNRQIIDRRN
710 720 730 740
ELEKDICSGF LMTNTCNAED GELREDGREQ EIRDGGSLKM IHFGLV
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7C375 | H7C375_HUMAN | WD repeat-containing and planar cel... | WDPCP | 132 | Annotation score: | ||
H7BZ13 | H7BZ13_HUMAN | WD repeat-containing and planar cel... | WDPCP | 402 | Annotation score: | ||
E9PFG9 | E9PFG9_HUMAN | WD repeat-containing and planar cel... | WDPCP | 554 | Annotation score: | ||
C9JDS5 | C9JDS5_HUMAN | WD repeat-containing and planar cel... | WDPCP | 84 | Annotation score: | ||
F8WBT2 | F8WBT2_HUMAN | WD repeat-containing and planar cel... | WDPCP | 46 | Annotation score: | ||
A0A1D5RMS8 | A0A1D5RMS8_HUMAN | WD repeat-containing and planar cel... | WDPCP | 8 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073251 | 54 | D → N in CHDTHP; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs200322968EnsemblClinVar. | 1 | |
Natural variantiVAR_064770 | 55 | R → K in a patient with Meckel syndrome compound heterozygous for mutations in CC2D2A. 1 PublicationCorresponds to variant dbSNP:rs267606693EnsemblClinVar. | 1 | |
Natural variantiVAR_064771 | 205 | L → F in a patient with Bardet-Biedl syndrome compound heterozygous for mutations in BBS12. 1 Publication | 1 | |
Natural variantiVAR_039919 | 268 | G → S. Corresponds to variant dbSNP:rs17617459EnsemblClinVar. | 1 | |
Natural variantiVAR_064772 | 708 | S → F1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_032408 | 1 – 166 | MRREF…DTISD → MFSSLHS in isoform 3. 2 PublicationsAdd BLAST | 166 | |
Alternative sequenceiVSP_032409 | 605 – 618 | DIHYL…GELAL → ASCYLTSNYTTRLQ in isoform 2. 1 PublicationAdd BLAST | 14 | |
Alternative sequenceiVSP_032410 | 619 – 746 | Missing in isoform 2. 1 PublicationAdd BLAST | 128 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF131737 mRNA Translation: AAD20026.1 BX538331 mRNA Translation: CAD98100.1 AC079353 Genomic DNA Translation: AAY24034.1 AC009501 Genomic DNA No translation available. AC067953 Genomic DNA No translation available. AC074367 Genomic DNA No translation available. BC093752 mRNA Translation: AAH93752.1 BC093754 mRNA Translation: AAH93754.1 |
CCDSi | CCDS42688.1 [O95876-1] CCDS46301.1 [O95876-3] |
RefSeqi | NP_001036157.1, NM_001042692.2 [O95876-3] NP_056994.3, NM_015910.5 [O95876-1] |
Genome annotation databases
Ensembli | ENST00000272321; ENSP00000272321; ENSG00000143951 [O95876-1] ENST00000398544; ENSP00000381552; ENSG00000143951 [O95876-3] ENST00000409562; ENSP00000387222; ENSG00000143951 [O95876-2] |
GeneIDi | 51057 |
KEGGi | hsa:51057 |
UCSCi | uc002scf.4, human [O95876-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF131737 mRNA Translation: AAD20026.1 BX538331 mRNA Translation: CAD98100.1 AC079353 Genomic DNA Translation: AAY24034.1 AC009501 Genomic DNA No translation available. AC067953 Genomic DNA No translation available. AC074367 Genomic DNA No translation available. BC093752 mRNA Translation: AAH93752.1 BC093754 mRNA Translation: AAH93754.1 |
CCDSi | CCDS42688.1 [O95876-1] CCDS46301.1 [O95876-3] |
RefSeqi | NP_001036157.1, NM_001042692.2 [O95876-3] NP_056994.3, NM_015910.5 [O95876-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 119249, 1 interactor |
ComplexPortali | CPX-5001, CPLANE complex |
IntActi | O95876, 1 interactor |
STRINGi | 9606.ENSP00000272321 |
PTM databases
iPTMneti | O95876 |
PhosphoSitePlusi | O95876 |
Polymorphism and mutation databases
BioMutai | WDPCP |
Proteomic databases
jPOSTi | O95876 |
MassIVEi | O95876 |
PaxDbi | O95876 |
PeptideAtlasi | O95876 |
PRIDEi | O95876 |
ProteomicsDBi | 51114 [O95876-1] 51115 [O95876-2] 51116 [O95876-3] |
Protocols and materials databases
Antibodypediai | 47438, 98 antibodies |
Genome annotation databases
Ensembli | ENST00000272321; ENSP00000272321; ENSG00000143951 [O95876-1] ENST00000398544; ENSP00000381552; ENSG00000143951 [O95876-3] ENST00000409562; ENSP00000387222; ENSG00000143951 [O95876-2] |
GeneIDi | 51057 |
KEGGi | hsa:51057 |
UCSCi | uc002scf.4, human [O95876-1] |
Organism-specific databases
CTDi | 51057 |
DisGeNETi | 51057 |
EuPathDBi | HostDB:ENSG00000143951.15 |
GeneCardsi | WDPCP |
GeneReviewsi | WDPCP |
HGNCi | HGNC:28027, WDPCP |
HPAi | ENSG00000143951, Low tissue specificity |
MalaCardsi | WDPCP |
MIMi | 217085, phenotype 613580, gene 615992, phenotype |
neXtProti | NX_O95876 |
OpenTargetsi | ENSG00000143951 |
Orphaneti | 110, Bardet-Biedl syndrome 1338, Heart defect-tongue hamartoma-polysyndactyly syndrome 564, Meckel syndrome |
PharmGKBi | PA164717186 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QR8Y, Eukaryota |
GeneTreei | ENSGT00390000016551 |
HOGENOMi | CLU_004917_1_0_1 |
InParanoidi | O95876 |
OMAi | CVYECAR |
OrthoDBi | 692945at2759 |
PhylomeDBi | O95876 |
TreeFami | TF323483 |
Enzyme and pathway databases
PathwayCommonsi | O95876 |
Miscellaneous databases
BioGRID-ORCSi | 51057, 3 hits in 843 CRISPR screens |
ChiTaRSi | WDPCP, human |
GenomeRNAii | 51057 |
Pharosi | O95876, Tbio |
PROi | PR:O95876 |
RNActi | O95876, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000143951, Expressed in nasal cavity epithelium and 221 other tissues |
ExpressionAtlasi | O95876, baseline and differential |
Genevisiblei | O95876, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
InterProi | View protein in InterPro IPR024511, Frtz IPR015943, WD40/YVTN_repeat-like_dom_sf IPR036322, WD40_repeat_dom_sf |
PANTHERi | PTHR13667, PTHR13667, 1 hit |
Pfami | View protein in Pfam PF11768, Frtz, 1 hit |
SUPFAMi | SSF50978, SSF50978, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FRITZ_HUMAN | |
Accessioni | O95876Primary (citable) accession number: O95876 Secondary accession number(s): Q53RW4, Q7Z2Z3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 18, 2008 |
Last sequence update: | March 18, 2008 | |
Last modified: | December 2, 2020 | |
This is version 134 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations