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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: -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

Caution

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

GO - Biological processi

Keywordsi

Biological processCilium biogenesis/degradation

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

EuPathDBiHostDB:ENSG00000143951.15
HGNCiHGNC:28027 WDPCP
MIMi613580 gene
neXtProtiNX_O95876

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)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.
See also OMIM:217085
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07325154D → 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, Obesity

Organism-specific databases

DisGeNETi51057
GeneReviewsiWDPCP
MalaCardsiWDPCP
MIMi217085 phenotype
615992 phenotype
OpenTargetsiENSG00000143951
Orphaneti110 Bardet-Biedl syndrome
1338 Heart defect-tongue hamartoma-polysyndactyly 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
ProteomicsDBi51114
51115 [O95876-2]
51116 [O95876-3]

PTM databases

iPTMnetiO95876
PhosphoSitePlusiO95876

Expressioni

Gene expression databases

BgeeiENSG00000143951 Expressed in 208 organ(s), highest expression level in nasal cavity epithelium
ExpressionAtlasiO95876 baseline and differential
GenevisibleiO95876 HS

Organism-specific databases

HPAiHPA044144

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 similarity

Protein-protein interaction databases

BioGridi119249, 1 interactor
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

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IGAV Eukaryota
ENOG410Y1HY LUCA
GeneTreeiENSGT00390000016551
InParanoidiO95876
KOiK22863
OMAiSVRTEWD
OrthoDBiEOG091G03ZZ
PhylomeDBiO95876
TreeFamiTF323483

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR024511 Frtz
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR13667 PTHR13667, 1 hit
PfamiView protein in Pfam
PF11768 Frtz, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

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

This 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 '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

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C375H7C375_HUMAN
WD repeat-containing and planar cel...
WDPCP
132Annotation score:
H7BZ13H7BZ13_HUMAN
WD repeat-containing and planar cel...
WDPCP
402Annotation score:
E9PFG9E9PFG9_HUMAN
WD repeat-containing and planar cel...
WDPCP
554Annotation score:
C9JDS5C9JDS5_HUMAN
WD repeat-containing and planar cel...
WDPCP
84Annotation score:
F8WBT2F8WBT2_HUMAN
WD repeat-containing and planar cel...
WDPCP
46Annotation score:
A0A1D5RMS8A0A1D5RMS8_HUMAN
WD repeat-containing and planar cel...
WDPCP
8Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07325154D → N in CHDTHP; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs200322968EnsemblClinVar.1
Natural variantiVAR_06477055R → K in a patient with Meckel syndrome compound heterozygous for mutations in CC2D2A. 1 PublicationCorresponds to variant dbSNP:rs267606693EnsemblClinVar.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 dbSNP:rs17617459EnsemblClinVar.1
Natural variantiVAR_064772708S → F1 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
Hs.682428
Hs.737299

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

Similar 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
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
Hs.682428
Hs.737299

3D structure databases

ProteinModelPortaliO95876
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119249, 1 interactor
IntActiO95876, 1 interactor
STRINGi9606.ENSP00000272321

PTM databases

iPTMnetiO95876
PhosphoSitePlusiO95876

Polymorphism and mutation databases

BioMutaiWDPCP

Proteomic databases

PaxDbiO95876
PeptideAtlasiO95876
PRIDEiO95876
ProteomicsDBi51114
51115 [O95876-2]
51116 [O95876-3]

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
EuPathDBiHostDB:ENSG00000143951.15
GeneCardsiWDPCP
GeneReviewsiWDPCP
H-InvDBiHIX0002091
HGNCiHGNC:28027 WDPCP
HPAiHPA044144
MalaCardsiWDPCP
MIMi217085 phenotype
613580 gene
615992 phenotype
neXtProtiNX_O95876
OpenTargetsiENSG00000143951
Orphaneti110 Bardet-Biedl syndrome
1338 Heart defect-tongue hamartoma-polysyndactyly syndrome
564 Meckel syndrome
PharmGKBiPA164717186
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGAV Eukaryota
ENOG410Y1HY LUCA
GeneTreeiENSGT00390000016551
InParanoidiO95876
KOiK22863
OMAiSVRTEWD
OrthoDBiEOG091G03ZZ
PhylomeDBiO95876
TreeFamiTF323483

Miscellaneous databases

ChiTaRSiWDPCP human
GenomeRNAii51057
PROiPR:O95876
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143951 Expressed in 208 organ(s), highest expression level in nasal cavity epithelium
ExpressionAtlasiO95876 baseline and differential
GenevisibleiO95876 HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR024511 Frtz
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR13667 PTHR13667, 1 hit
PfamiView protein in Pfam
PF11768 Frtz, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFRITZ_HUMAN
AccessioniPrimary (citable) accession number: O95876
Secondary accession number(s): Q53RW4, Q7Z2Z3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: November 7, 2018
This is version 123 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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