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Protein

WD repeat-containing and planar cell polarity effector protein fritz homolog

Gene

WDPCP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000143951-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing and planar cell polarity effector protein fritz homolog
Short 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:28027. WDPCP.

Subcellular locationi

  • Cell membrane By similarity
  • Cytoplasmcytoskeletoncilium axoneme By similarity
  • Cytoplasmcytoskeletoncilium basal body By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

Pathology & 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.
See also OMIM:615992
Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP)1 Publication
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.
See also OMIM:217085
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07325154D → N in CHDTHP; impairs protein stability. 2 PublicationsCorresponds to variant rs200322968dbSNPEnsembl.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.

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity

Organism-specific databases

DisGeNETi51057.
MalaCardsiWDPCP.
MIMi217085. phenotype.
615992. phenotype.
OpenTargetsiENSG00000143951.
Orphaneti110. Bardet-Biedl syndrome.
564. Meckel syndrome.
PharmGKBiPA164717186.

Polymorphism and mutation databases

BioMutaiWDPCP.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003258021 – 746WD repeat-containing and planar cell polarity effector protein fritz homologAdd BLAST746

Proteomic databases

PaxDbiO95876.
PeptideAtlasiO95876.
PRIDEiO95876.

PTM databases

iPTMnetiO95876.
PhosphoSitePlusiO95876.

Expressioni

Gene expression databases

BgeeiENSG00000143951.
ExpressionAtlasiO95876. baseline and differential.
GenevisibleiO95876. HS.

Organism-specific databases

HPAiHPA044144.

Interactioni

Subunit structurei

Interacts with C5orf42/JBTS17. Interacts with INTU and FUZ; FUZ, INTU and WDPCP probably form the core CPLANE (ciliogenesis and planar polarity effectors) complex.By similarity

Protein-protein interaction databases

IntActiO95876. 1 interactor.
STRINGi9606.ENSP00000272321.

Structurei

3D structure databases

ProteinModelPortaliO95876.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati326 – 374WD 1Add BLAST49
Repeati375 – 414WD 2Add BLAST40

Sequence similaritiesi

Belongs to the WD repeat fritz family.Curated
Contains 2 WD repeats.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IGAV. Eukaryota.
ENOG410Y1HY. LUCA.
GeneTreeiENSGT00390000016551.
InParanoidiO95876.
OMAiCSYELAT.
OrthoDBiEOG091G03ZZ.
PhylomeDBiO95876.
TreeFamiTF323483.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR024511. Frtz.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF11768. Frtz. 1 hit.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O95876-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:746
Mass (Da):85,084
Last modified:March 18, 2008 - v2
Checksum:i585EFED0D93EB3D4
GO
Isoform 2 (identifier: O95876-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     605-618: DIHYLALDKGELAL → ASCYLTSNYTTRLQ
     619-746: Missing.

Show »
Length:618
Mass (Da):71,020
Checksum:i27D2487D6867E308
GO
Isoform 3 (identifier: O95876-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-166: MRREFCWDAY...GKLISDTISD → MFSSLHS

Show »
Length:587
Mass (Da):66,655
Checksum:i1F9B84EEAC6EA4E7
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07325154D → N in CHDTHP; impairs protein stability. 2 PublicationsCorresponds to variant rs200322968dbSNPEnsembl.1
Natural variantiVAR_06477055R → K in a patient with Meckel syndrome compound heterozygous for mutations in CC2D2A. 1 PublicationCorresponds to variant rs267606693dbSNPEnsembl.1
Natural variantiVAR_064771205L → F in a patient with Bardet-Biedl syndrome compound heterozygous for mutations in BBS12. 1 Publication1
Natural variantiVAR_039919268G → S.Corresponds to variant rs17617459dbSNPEnsembl.1
Natural variantiVAR_064772708S → F.1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0324081 – 166MRREF…DTISD → MFSSLHS in isoform 3. 2 PublicationsAdd BLAST166
Alternative sequenceiVSP_032409605 – 618DIHYL…GELAL → ASCYLTSNYTTRLQ in isoform 2. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_032410619 – 746Missing in isoform 2. 1 PublicationAdd BLAST128

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.
CCDSiCCDS42688.1. [O95876-1]
CCDS46301.1. [O95876-3]
RefSeqiNP_001036157.1. NM_001042692.2. [O95876-3]
NP_056994.3. NM_015910.5. [O95876-1]
UniGeneiHs.414952.

Genome annotation databases

EnsembliENST00000272321; ENSP00000272321; ENSG00000143951. [O95876-1]
ENST00000398544; ENSP00000381552; ENSG00000143951. [O95876-3]
ENST00000409562; ENSP00000387222; ENSG00000143951. [O95876-2]
GeneIDi51057.
KEGGihsa:51057.
UCSCiuc002scf.4. human. [O95876-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS42688.1. [O95876-1]
CCDS46301.1. [O95876-3]
RefSeqiNP_001036157.1. NM_001042692.2. [O95876-3]
NP_056994.3. NM_015910.5. [O95876-1]
UniGeneiHs.414952.

3D structure databases

ProteinModelPortaliO95876.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiO95876. 1 interactor.
STRINGi9606.ENSP00000272321.

PTM databases

iPTMnetiO95876.
PhosphoSitePlusiO95876.

Polymorphism and mutation databases

BioMutaiWDPCP.

Proteomic databases

PaxDbiO95876.
PeptideAtlasiO95876.
PRIDEiO95876.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000272321; ENSP00000272321; ENSG00000143951. [O95876-1]
ENST00000398544; ENSP00000381552; ENSG00000143951. [O95876-3]
ENST00000409562; ENSP00000387222; ENSG00000143951. [O95876-2]
GeneIDi51057.
KEGGihsa:51057.
UCSCiuc002scf.4. human. [O95876-1]

Organism-specific databases

CTDi51057.
DisGeNETi51057.
GeneCardsiWDPCP.
GeneReviewsiWDPCP.
H-InvDBHIX0002091.
HGNCiHGNC:28027. WDPCP.
HPAiHPA044144.
MalaCardsiWDPCP.
MIMi217085. phenotype.
613580. gene.
615992. phenotype.
neXtProtiNX_O95876.
OpenTargetsiENSG00000143951.
Orphaneti110. Bardet-Biedl syndrome.
564. Meckel syndrome.
PharmGKBiPA164717186.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGAV. Eukaryota.
ENOG410Y1HY. LUCA.
GeneTreeiENSGT00390000016551.
InParanoidiO95876.
OMAiCSYELAT.
OrthoDBiEOG091G03ZZ.
PhylomeDBiO95876.
TreeFamiTF323483.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000143951-MONOMER.

Miscellaneous databases

ChiTaRSiWDPCP. human.
GenomeRNAii51057.
PROiO95876.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143951.
ExpressionAtlasiO95876. baseline and differential.
GenevisibleiO95876. HS.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR024511. Frtz.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF11768. Frtz. 1 hit.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiFRITZ_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 108 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Caution

It is uncertain whether Met-1 or Met-34 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.