CleftGeneDB-Search

Gene: Wdpcp

Basic information

Tag	Content
Uniprot ID	Q8C456; Q8BRR5; Q91ZJ2;
Entrez ID	216560
Genbank protein ID	BAC38742.1; BAC31614.1; AAL24810.1;
Genbank nucleotide ID	NM_145425.3
Ensembl protein ID	ENSMUSP00000020568
Ensembl nucleotide ID	ENSMUSG00000020319
Gene name	WD repeat-containing and planar cell polarity effector protein fritz homolog
Gene symbol	Wdpcp
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage
Data sources	Manually collected
Reference	24302887; 27158779;
Functional description	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 (PubMed:27158779).
Sequence	MSFCLTELHL WSLKSTLHIA DRDIGVYQYY DKKDPSVSAT EHGNLEEKQR LAESRDYPWT 60 LKNRRPEKLR DSLKELEELM QSSPCVLSKW KSKYICQLLF GSGVLVSLSL SGPQLEKVVI 120 DRSLVGKLIS DTISDALLTD SFIILSFLAQ NKLCFIQFTK KMDSLDGNKR LEKLSALDLK 180 ISYYDIPGPA NRTIDRHLAV NSTQDLVVCW WPLVSDDVWP WTPVSSEKDR ANMLLLGFTQ 240 GGLEVLSFVR TEWSPLDVHF GTKQPYQVFT VECSVSVDKE PMADSCIYES VRNKLHCVSV 300 TRIPLRSKAI SCCRNSTEDK LIVGCEDSSV ILYEAHRGVT LLAQAELRPS LISCHPSGAI 360 LLVGSNQGEL QIFDIALSPI NIQLLAEDYS PKETLQFKKF FDVSSSLVQM QWMAPPVVFQ 420 KPKRGEICDL LFLRFNKGPL GVLLFKLGIL TRGQLGLVDL ILQYIHYSEV YEAISILRSM 480 DWDTLGQQCL IGMGTIVNHL LRQRLTPERE AQLEASLGTF YAPTRPLLDT TILEYREPVS 540 KYARRLFHHL LRYKRFEKAF LLAVDIGARD LFMDIHYLAL DMGELALAEV ARRRAHDIDV 600 ESVSSGVELL GPLDRRDMLN EGFASSALMP EGENKFPGLL PSIGSTHMQT LQQKIPNGPS 660 SRWAIERRTE EEEEEEEEEE EELCTDSSGA TTWNAEGELK EDQRKQDIGD VGSLRMVHFG 720 LV 722

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	WDPCP		F1Q1T8		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	WDPCP		A0A452F7N6		Capra hircus	Prediction	More>>
1:1 ortholog	WDPCP	51057	O95876		Homo sapiens	Prediction	More>>
1:1 ortholog	Wdpcp	216560	Q8C456	CPO	Mus musculus	Publication	More>>
1:1 ortholog	WDPCP	459270	H2R2S2		Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A287AI40		Sus scrofa	Prediction	More>>
1:1 ortholog	Wdpcp		A0A0G2JXB0		Rattus norvegicus	Prediction	More>>
1:1 ortholog	wdpcp	100333125	E7F9Q9		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs223621729	p.Asn151Lys	missense variant	-	NC_000077.6:g.21691816C>A	UniProt
rs26848085	p.Leu179Phe	missense variant	-	NC_000077.6:g.21691898C>T	UniProt
rs237450091	p.Ser285Asn	missense variant	-	NC_000077.6:g.21711583G>A	UniProt
rs232999021	p.Arg314Lys	missense variant	-	NC_000077.6:g.21711670G>A	UniProt
rs26830057	p.Tyr389Cys	missense variant	-	NC_000077.6:g.21711895A>G	UniProt
rs222007557	p.Val417Ile	missense variant	-	NC_000077.6:g.21711978G>A	UniProt
rs13480905	p.Ser468Asn	missense variant	-	NC_000077.6:g.21721163G>A	UniProt
rs259517483	p.Ile476Val	missense variant	-	NC_000077.6:g.21721186A>G	UniProt
rs26829992	p.Arg594Lys	missense variant	-	NC_000077.6:g.21813421G>A	UniProt
rs257912637	p.Met648Ile	missense variant	-	NC_000077.6:g.21857568G>A	UniProt
rs216593549	p.Leu683Val	missense variant	-	NC_000077.6:g.21885045T>G	UniProt
rs260501790	p.Gly689Val	missense variant	-	NC_000077.6:g.21885064G>T	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001822	kidney development	IMP
GO:0002093	auditory receptor cell morphogenesis	IMP
GO:0007224	smoothened signaling pathway	IMP
GO:0007399	nervous system development	IMP
GO:0010762	regulation of fibroblast migration	IMP
GO:0016476	regulation of embryonic cell shape	ISS
GO:0032185	septin cytoskeleton organization	ISS
GO:0032880	regulation of protein localization	ISS
GO:0042733	embryonic digit morphogenesis	IMP
GO:0043010	camera-type eye development	IMP
GO:0044782	cilium organization	IMP
GO:0045184	establishment of protein localization	IBA
GO:0045184	establishment of protein localization	IMP
GO:0048568	embryonic organ development	IGI
GO:0051893	regulation of focal adhesion assembly	IMP
GO:0055123	digestive system development	IMP
GO:0060021	roof of mouth development	IMP
GO:0060271	cilium assembly	ISS
GO:0060271	cilium assembly	IMP
GO:0060541	respiratory system development	IMP
GO:0072358	cardiovascular system development	IMP
GO:0090521	glomerular visceral epithelial cell migration	IMP
GO:1900027	regulation of ruffle assembly	IMP
GO:2000114	regulation of establishment of cell polarity	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005930	axoneme	ISS
GO:0097541	axonemal basal plate	IDA
GO:0005886	plasma membrane	ISS
GO:0005938	cell cortex	ISS
GO:0016324	apical plasma membrane	ISS

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-1003	Cell membrane
KW-0966	Cell projection
KW-0969	Cilium
KW-0970	Cilium biogenesis/degradation
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0472	Membrane
KW-1185	Reference proteome
KW-0677	Repeat
KW-0853	WD repeat

Interpro

InterPro ID	InterPro Term
IPR024511	Frtz
IPR015943	WD40/YVTN_repeat-like_dom_sf
IPR036322	WD40_repeat_dom_sf

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF11768	Frtz