{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"O95876","secondaryAccessions":["Q53RW4","Q7Z2Z3"],"uniProtkbId":"FRITZ_HUMAN","entryAudit":{"firstPublicDate":"2008-03-18","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2008-03-18","entryVersion":159,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"WD repeat-containing and planar cell polarity effector protein fritz homolog"},"shortNames":[{"value":"hFRTZ"}]},"alternativeNames":[{"fullName":{"value":"Bardet-Biedl syndrome 15 protein"}},{"fullName":{"value":"WD repeat-containing and planar cell polarity effector protein"}}]},"genes":[{"geneName":{"value":"WDPCP"},"synonyms":[{"value":"BBS15"},{"value":"C2orf86"},{"value":"FRITZ"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8C456"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35427153"}],"value":"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). Binds phosphatidylinositol 3-phosphate with highest affinity, followed by phosphatidylinositol 4-phosphate and phosphatidylinositol 5-phosphate (PubMed:35427153)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8C456"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35427153"}],"value":"Component of the CPLANE (ciliogenesis and planar polarity effectors) complex, composed of INTU, FUZ and WDPCP (PubMed:35427153). Interacts with CPLANE1 (By similarity)"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q32NR9"}],"value":"Cell membrane","id":"SL-0039"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q32NR9"}],"value":"Cytoplasm, cytoskeleton, cilium axoneme","id":"SL-0304"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q32NR9"}],"value":"Cytoplasm, cytoskeleton, cilium basal body","id":"SL-0087"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["O95876-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["O95876-2"],"sequenceIds":["VSP_032409","VSP_032410"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["O95876-3"],"sequenceIds":["VSP_032408"],"isoformSequenceStatus":"Described"}]},{"commentType":"DISEASE","disease":{"diseaseId":"Bardet-Biedl syndrome 15","diseaseAccession":"DI-02938","acronym":"BBS15","description":"A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. 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.","diseaseCrossReference":{"database":"MIM","id":"615992"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20671153"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35427153"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Congenital heart defects, hamartomas of tongue, and polysyndactyly","diseaseAccession":"DI-04320","acronym":"CHDTHP","description":"A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta.","diseaseCrossReference":{"database":"MIM","id":"217085"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25427950"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27158779"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35427153"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20671153"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35427153"}],"value":"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"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the WD repeat fritz family"}],"commentType":"SIMILARITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"It is uncertain whether Met-1 or Met-34 is the initiator"}],"commentType":"CAUTION"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":746,"modifier":"EXACT"}},"description":"WD repeat-containing and planar cell polarity effector protein fritz homolog","featureId":"PRO_0000325802"},{"type":"Repeat","location":{"start":{"value":326,"modifier":"EXACT"},"end":{"value":374,"modifier":"EXACT"}},"description":"WD 1"},{"type":"Repeat","location":{"start":{"value":375,"modifier":"EXACT"},"end":{"value":414,"modifier":"EXACT"}},"description":"WD 2"},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":166,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000303","source":"Reference","id":"Ref.1"}],"featureId":"VSP_032408","alternativeSequence":{"originalSequence":"MRREFCWDAYSKAAGSRASSPLPRQDRDSFCHQMSFCLTELHLWSLKNTLHIADRDIGIYQYYDKKDPPATEHGNLEKKQKLAESRDYPWTLKNRRPEKLRDSLKELEELMQNSRCVLSKWKNKYVCQLLFGSGVLVSLSLSGPQLEKVVIDRSLVGKLISDTISD","alternativeSequences":["MFSSLHS"]}},{"type":"Alternative sequence","location":{"start":{"value":605,"modifier":"EXACT"},"end":{"value":618,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17974005"}],"featureId":"VSP_032409","alternativeSequence":{"originalSequence":"DIHYLALDKGELAL","alternativeSequences":["ASCYLTSNYTTRLQ"]}},{"type":"Alternative sequence","location":{"start":{"value":619,"modifier":"EXACT"},"end":{"value":746,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17974005"}],"featureId":"VSP_032410","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":54,"modifier":"EXACT"},"end":{"value":54,"modifier":"EXACT"}},"description":"in CHDTHP; impairs protein stability; no effect on the assembly of the CPLANE complex; dbSNP:rs200322968","featureCrossReferences":[{"database":"dbSNP","id":"rs200322968"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25427950"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27158779"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35427153"}],"featureId":"VAR_073251","alternativeSequence":{"originalSequence":"D","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":55,"modifier":"EXACT"},"end":{"value":55,"modifier":"EXACT"}},"description":"in a patient with Meckel syndrome compound heterozygous for mutations in CC2D2A; no effect on the assembly of the CPLANE complex; dbSNP:rs267606693","featureCrossReferences":[{"database":"dbSNP","id":"rs267606693"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20671153"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35427153"}],"featureId":"VAR_064770","alternativeSequence":{"originalSequence":"R","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":205,"modifier":"EXACT"},"end":{"value":205,"modifier":"EXACT"}},"description":"in a patient with Bardet-Biedl syndrome compound heterozygous for mutations in BBS12; no effect on the assembly of the CPLANE complex","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20671153"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35427153"}],"featureId":"VAR_064771","alternativeSequence":{"originalSequence":"L","alternativeSequences":["F"]}},{"type":"Natural variant","location":{"start":{"value":268,"modifier":"EXACT"},"end":{"value":268,"modifier":"EXACT"}},"description":"in dbSNP:rs17617459","featureCrossReferences":[{"database":"dbSNP","id":"rs17617459"}],"featureId":"VAR_039919","alternativeSequence":{"originalSequence":"G","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":708,"modifier":"EXACT"},"end":{"value":708,"modifier":"EXACT"}},"description":"no effect on the assembly of the CPLANE complex; increased binding to phosphoinositides","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20671153"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35427153"}],"featureId":"VAR_064772","alternativeSequence":{"originalSequence":"S","alternativeSequences":["F"]}},{"type":"Beta strand","location":{"start":{"value":36,"modifier":"EXACT"},"end":{"value":43,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":59,"modifier":"EXACT"},"end":{"value":61,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Helix","location":{"start":{"value":73,"modifier":"EXACT"},"end":{"value":85,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Turn","location":{"start":{"value":96,"modifier":"EXACT"},"end":{"value":98,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Helix","location":{"start":{"value":100,"modifier":"EXACT"},"end":{"value":113,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":116,"modifier":"EXACT"},"end":{"value":123,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":126,"modifier":"EXACT"},"end":{"value":131,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":136,"modifier":"EXACT"},"end":{"value":142,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":145,"modifier":"EXACT"},"end":{"value":152,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Helix","location":{"start":{"value":154,"modifier":"EXACT"},"end":{"value":157,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":164,"modifier":"EXACT"},"end":{"value":169,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":171,"modifier":"EXACT"},"end":{"value":180,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":183,"modifier":"EXACT"},"end":{"value":190,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":210,"modifier":"EXACT"},"end":{"value":216,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Turn","location":{"start":{"value":222,"modifier":"EXACT"},"end":{"value":224,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":228,"modifier":"EXACT"},"end":{"value":231,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":237,"modifier":"EXACT"},"end":{"value":241,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":263,"modifier":"EXACT"},"end":{"value":270,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":273,"modifier":"EXACT"},"end":{"value":280,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":286,"modifier":"EXACT"},"end":{"value":291,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":293,"modifier":"EXACT"},"end":{"value":295,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":299,"modifier":"EXACT"},"end":{"value":306,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":312,"modifier":"EXACT"},"end":{"value":315,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":328,"modifier":"EXACT"},"end":{"value":330,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":333,"modifier":"EXACT"},"end":{"value":335,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":340,"modifier":"EXACT"},"end":{"value":345,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":349,"modifier":"EXACT"},"end":{"value":356,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Turn","location":{"start":{"value":357,"modifier":"EXACT"},"end":{"value":359,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":360,"modifier":"EXACT"},"end":{"value":365,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Turn","location":{"start":{"value":366,"modifier":"EXACT"},"end":{"value":369,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":370,"modifier":"EXACT"},"end":{"value":375,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":381,"modifier":"EXACT"},"end":{"value":385,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":392,"modifier":"EXACT"},"end":{"value":395,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":399,"modifier":"EXACT"},"end":{"value":404,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":410,"modifier":"EXACT"},"end":{"value":415,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":423,"modifier":"EXACT"},"end":{"value":427,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Helix","location":{"start":{"value":428,"modifier":"EXACT"},"end":{"value":430,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":437,"modifier":"EXACT"},"end":{"value":443,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":461,"modifier":"EXACT"},"end":{"value":467,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Beta strand","location":{"start":{"value":471,"modifier":"EXACT"},"end":{"value":476,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Turn","location":{"start":{"value":480,"modifier":"EXACT"},"end":{"value":484,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Helix","location":{"start":{"value":488,"modifier":"EXACT"},"end":{"value":497,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Helix","location":{"start":{"value":501,"modifier":"EXACT"},"end":{"value":510,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Helix","location":{"start":{"value":514,"modifier":"EXACT"},"end":{"value":516,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Helix","location":{"start":{"value":517,"modifier":"EXACT"},"end":{"value":532,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Helix","location":{"start":{"value":538,"modifier":"EXACT"},"end":{"value":552,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Helix","location":{"start":{"value":557,"modifier":"EXACT"},"end":{"value":559,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Helix","location":{"start":{"value":560,"modifier":"EXACT"},"end":{"value":582,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Turn","location":{"start":{"value":583,"modifier":"EXACT"},"end":{"value":585,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Helix","location":{"start":{"value":587,"modifier":"EXACT"},"end":{"value":597,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Turn","location":{"start":{"value":600,"modifier":"EXACT"},"end":{"value":603,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Helix","location":{"start":{"value":604,"modifier":"EXACT"},"end":{"value":611,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]},{"type":"Helix","location":{"start":{"value":617,"modifier":"EXACT"},"end":{"value":627,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7Q3D"}]}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0083","category":"Disease","name":"Bardet-Biedl syndrome"},{"id":"KW-1003","category":"Cellular component","name":"Cell membrane"},{"id":"KW-0966","category":"Cellular component","name":"Cell projection"},{"id":"KW-1186","category":"Disease","name":"Ciliopathy"},{"id":"KW-0969","category":"Cellular component","name":"Cilium"},{"id":"KW-0970","category":"Biological process","name":"Cilium biogenesis/degradation"},{"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"id":"KW-0206","category":"Cellular component","name":"Cytoskeleton"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0991","category":"Disease","name":"Intellectual disability"},{"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"id":"KW-0550","category":"Disease","name":"Obesity"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0677","category":"Domain","name":"Repeat"},{"id":"KW-0853","category":"Domain","name":"WD repeat"}],"references":[{"referenceNumber":1,"citation":{"id":"CI-FPHLTFGVH9CTP","citationType":"submission","authors":["Mei G.","Yu W.","Gibbs R.A."],"publicationDate":"FEB-1999","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":2,"citation":{"id":"17974005","citationType":"journal article","authors":["Bechtel S.","Rosenfelder H.","Duda A.","Schmidt C.P.","Ernst U.","Wellenreuther R.","Mehrle A.","Schuster C.","Bahr A.","Bloecker H.","Heubner D.","Hoerlein A.","Michel G.","Wedler H.","Koehrer K.","Ottenwaelder B.","Poustka A.","Wiemann S.","Schupp I."],"citationCrossReferences":[{"database":"PubMed","id":"17974005"},{"database":"DOI","id":"10.1186/1471-2164-8-399"}],"title":"The full-ORF clone resource of the German cDNA consortium.","publicationDate":"2007","journal":"BMC Genomics","firstPage":"399","lastPage":"399","volume":"8"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)"],"referenceComments":[{"value":"Fetal brain","type":"TISSUE"}]},{"referenceNumber":3,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.-M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.-P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":4,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"35427153","citationType":"journal article","authors":["Langousis G.","Cavadini S.","Boegholm N.","Lorentzen E.","Kempf G.","Matthias P."],"citationCrossReferences":[{"database":"PubMed","id":"35427153"},{"database":"DOI","id":"10.1126/sciadv.abn0832"}],"title":"Structure of the ciliogenesis-associated CPLANE complex.","publicationDate":"2022","journal":"Sci. Adv.","firstPage":"Eabn0832","lastPage":"Eabn0832","volume":"8"},"referencePositions":["STRUCTURE BY ELECTRON MICROSCOPY (3.35 ANGSTROMS) OF 2-746","IDENTIFICATION IN THE CPLANE COMPLEX","FUNCTION","CHARACTERIZATION OF VARIANT CHDTHP ASN-54","CHARACTERIZATION OF VARIANTS LYS-55; PHE-205 AND PHE-708"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"7Q3D"}]},{"referenceNumber":6,"citation":{"id":"20671153","citationType":"journal article","authors":["Kim S.K.","Shindo A.","Park T.J.","Oh E.C.","Ghosh S.","Gray R.S.","Lewis R.A.","Johnson C.A.","Attie-Bittach T.","Katsanis N.","Wallingford J.B."],"citationCrossReferences":[{"database":"PubMed","id":"20671153"},{"database":"DOI","id":"10.1126/science.1191184"}],"title":"Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.","publicationDate":"2010","journal":"Science","firstPage":"1337","lastPage":"1340","volume":"329"},"referencePositions":["INVOLVEMENT IN BBS15","INVOLVEMENT IN MECKEL SYNDROME","VARIANTS LYS-55; PHE-205 AND PHE-708"]},{"referenceNumber":7,"citation":{"id":"25427950","citationType":"journal article","authors":["Saari J.","Lovell M.A.","Yu H.C.","Bellus G.A."],"citationCrossReferences":[{"database":"PubMed","id":"25427950"},{"database":"DOI","id":"10.1002/ajmg.a.36852"}],"title":"Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.","publicationDate":"2015","journal":"Am. J. Med. Genet. A","firstPage":"421","lastPage":"427","volume":"167"},"referencePositions":["INVOLVEMENT IN CHDTHP","VARIANT CHDTHP ASN-54"]},{"referenceNumber":8,"citation":{"id":"27158779","citationType":"journal article","authors":["Toriyama M.","Lee C.","Taylor S.P.","Duran I.","Cohn D.H.","Bruel A.L.","Tabler J.M.","Drew K.","Kelly M.R.","Kim S.","Park T.J.","Braun D.A.","Pierquin G.","Biver A.","Wagner K.","Malfroot A.","Panigrahi I.","Franco B.","Al-Lami H.A.","Yeung Y.","Choi Y.J.","Duffourd Y.","Faivre L.","Riviere J.B.","Chen J.","Liu K.J.","Marcotte E.M.","Hildebrandt F.","Thauvin-Robinet C.","Krakow D.","Jackson P.K.","Wallingford J.B."],"citationCrossReferences":[{"database":"PubMed","id":"27158779"},{"database":"DOI","id":"10.1038/ng.3558"}],"title":"The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.","publicationDate":"2016","journal":"Nat. Genet.","firstPage":"648","lastPage":"656","volume":"48"},"referencePositions":["VARIANT CHDTHP ASN-54","CHARACTERIZATION OF VARIANT CHDTHP ASN-54"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AF131737","properties":[{"key":"ProteinId","value":"AAD20026.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BX538331","properties":[{"key":"ProteinId","value":"CAD98100.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AC079353","properties":[{"key":"ProteinId","value":"AAY24034.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC009501","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC067953","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC074367","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC093752","properties":[{"key":"ProteinId","value":"AAH93752.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC093754","properties":[{"key":"ProteinId","value":"AAH93754.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS42688.1","properties":[{"key":"Description","value":"-"}],"isoformId":"O95876-1"},{"database":"CCDS","id":"CCDS46301.1","properties":[{"key":"Description","value":"-"}],"isoformId":"O95876-3"},{"database":"RefSeq","id":"NP_001036157.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001042692.3"}],"isoformId":"O95876-3"},{"database":"RefSeq","id":"NP_056994.3","properties":[{"key":"NucleotideSequenceId","value":"NM_015910.7"}],"isoformId":"O95876-1"},{"database":"PDB","id":"7Q3D","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.35 A"},{"key":"Chains","value":"A=2-746"}]},{"database":"PDBsum","id":"7Q3D","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"O95876","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-13789","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"O95876","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"119249","properties":[{"key":"Interactions","value":"3"}]},{"database":"ComplexPortal","id":"CPX-5001","properties":[{"key":"EntryName","value":"CPLANE complex"}]},{"database":"FunCoup","id":"O95876","properties":[{"key":"Number of interactors","value":"285"}]},{"database":"IntAct","id":"O95876","properties":[{"key":"Interactions","value":"1"}]},{"database":"NDEx","id":"IQUERY-CP-WDPCP","properties":[{"key":"Evidences","value":"3 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000272321","properties":[{"key":"Description","value":"-"}]},{"database":"GlyGen","id":"O95876","properties":[{"key":"glycosylation","value":"1 site, 1 O-linked glycan (1 site)"}]},{"database":"iPTMnet","id":"O95876","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"O95876","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"WDPCP","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"O95876","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000272321","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"O95876","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"47438","properties":[{"key":"antibodies","value":"105 antibodies from 20 providers"}]},{"database":"DNASU","id":"51057","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000272321.12","properties":[{"key":"ProteinId","value":"ENSP00000272321.7"},{"key":"GeneId","value":"ENSG00000143951.17"}],"isoformId":"O95876-1"},{"database":"Ensembl","id":"ENST00000398544.7","properties":[{"key":"ProteinId","value":"ENSP00000381552.3"},{"key":"GeneId","value":"ENSG00000143951.17"}],"isoformId":"O95876-3"},{"database":"Ensembl","id":"ENST00000409562.7","properties":[{"key":"ProteinId","value":"ENSP00000387222.3"},{"key":"GeneId","value":"ENSG00000143951.17"}],"isoformId":"O95876-2"},{"database":"GeneID","id":"51057","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:51057","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000272321.12","properties":[{"key":"ProteinId","value":"ENSP00000272321.7"},{"key":"RefSeqNucleotideId","value":"NM_015910.7"},{"key":"RefSeqProteinId","value":"NP_056994.3"}]},{"database":"UCSC","id":"uc002scf.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"O95876-1"},{"database":"AGR","id":"HGNC:28027","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA164717186","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"51057","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"51057","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"WDPCP","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"WDPCP","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:28027","properties":[{"key":"GeneName","value":"WDPCP"}]},{"database":"HPA","id":"ENSG00000143951","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"WDPCP","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"217085","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"613580","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"615992","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000143951","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"110","properties":[{"key":"Disease","value":"Bardet-Biedl syndrome"}]},{"database":"Orphanet","id":"1338","properties":[{"key":"Disease","value":"Heart defect-tongue hamartoma-polysyndactyly syndrome"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000143951","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"ENOG502QR8Y","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00390000016551","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_004917_1_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"O95876","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"NSMNWNT","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"10013020at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"O95876","properties":[{"key":"Number of GO annotations","value":"4 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"O95876","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"O95876","properties":[{"key":"Description","value":"-"}]},{"database":"SignaLink","id":"O95876","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"O95876","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000143951","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"51057","properties":[{"key":"hits","value":"6 hits in 1150 CRISPR screens"}]},{"database":"ChiTaRS","id":"WDPCP","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GenomeRNAi","id":"51057","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"O95876","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:O95876","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]},{"database":"RNAct","id":"O95876","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000143951","properties":[{"key":"ExpressionPatterns","value":"Expressed in kidney epithelium and 198 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"O95876","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0097541","properties":[{"key":"GoTerm","value":"C:axonemal basal plate"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0005930","properties":[{"key":"GoTerm","value":"C:axoneme"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0005929","properties":[{"key":"GoTerm","value":"C:cilium"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"27158779"}]},{"database":"GO","id":"GO:0005886","properties":[{"key":"GoTerm","value":"C:plasma membrane"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0035091","properties":[{"key":"GoTerm","value":"F:phosphatidylinositol binding"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0060271","properties":[{"key":"GoTerm","value":"P:cilium assembly"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0044782","properties":[{"key":"GoTerm","value":"P:cilium organization"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0042733","properties":[{"key":"GoTerm","value":"P:embryonic digit morphogenesis"},{"key":"GoEvidenceType","value":"IMP:GO_Central"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"27158779"}]},{"database":"GO","id":"GO:0001736","properties":[{"key":"GoTerm","value":"P:establishment of planar polarity"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"27158779"}]},{"database":"GO","id":"GO:0045184","properties":[{"key":"GoTerm","value":"P:establishment of protein localization"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0042073","properties":[{"key":"GoTerm","value":"P:intraciliary transport"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"27158779"}]},{"database":"GO","id":"GO:0007399","properties":[{"key":"GoTerm","value":"P:nervous system development"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0021915","properties":[{"key":"GoTerm","value":"P:neural tube development"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"27158779"}]},{"database":"GO","id":"GO:1902017","properties":[{"key":"GoTerm","value":"P:regulation of cilium assembly"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"27158779"}]},{"database":"GO","id":"GO:0016476","properties":[{"key":"GoTerm","value":"P:regulation of embryonic cell shape"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0032880","properties":[{"key":"GoTerm","value":"P:regulation of protein localization"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0060021","properties":[{"key":"GoTerm","value":"P:roof of mouth development"},{"key":"GoEvidenceType","value":"IMP:GO_Central"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"27158779"}]},{"database":"GO","id":"GO:0032185","properties":[{"key":"GoTerm","value":"P:septin cytoskeleton organization"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0043587","properties":[{"key":"GoTerm","value":"P:tongue morphogenesis"},{"key":"GoEvidenceType","value":"IMP:GO_Central"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"27158779"}]},{"database":"Gene3D","id":"2.130.10.10","properties":[{"key":"EntryName","value":"YVTN repeat-like/Quinoprotein amine dehydrogenase"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR024511","properties":[{"key":"EntryName","value":"Frtz"}]},{"database":"InterPro","id":"IPR015943","properties":[{"key":"EntryName","value":"WD40/YVTN_repeat-like_dom_sf"}]},{"database":"InterPro","id":"IPR036322","properties":[{"key":"EntryName","value":"WD40_repeat_dom_sf"}]},{"database":"PANTHER","id":"PTHR13667","properties":[{"key":"EntryName","value":"HOMOLOC-13"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR13667:SF5","properties":[{"key":"EntryName","value":"WD REPEAT-CONTAINING AND PLANAR CELL POLARITY EFFECTOR PROTEIN FRITZ HOMOLOG"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF11768","properties":[{"key":"EntryName","value":"Frtz"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF50978","properties":[{"key":"EntryName","value":"WD40 repeat-like"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MRREFCWDAYSKAAGSRASSPLPRQDRDSFCHQMSFCLTELHLWSLKNTLHIADRDIGIYQYYDKKDPPATEHGNLEKKQKLAESRDYPWTLKNRRPEKLRDSLKELEELMQNSRCVLSKWKNKYVCQLLFGSGVLVSLSLSGPQLEKVVIDRSLVGKLISDTISDALLTDSFIILSFLAQNKLCFIQFTKKMESSDVNKRLEKLSALDYKIFYYEIPGPINKTTERHLAINCVHDRVVCWWPLVNDDAWPWAPISSEKDRANLLLLGYAQGRLEVLSSVRTEWDPLDVRFGTKQPYQVFTVEHSVSVDKEPMADSCIYECIRNKIQCVSVTRIPLKSKAISCCRNVTEDKLILGCEDSSLILYETHRRVTLLAQTELLPSLISCHPSGAILLVGSNQGELQIFDMALSPINIQLLAEDRLPRETLQFSKLFDASSSLVQMQWIAPQVVSQKGEGSDIYDLLFLRFERGPLGVLLFKLGVFTRGQLGLIDIIFQYIHCDEIYEAINILSSMNWDTLGHQCFISMSAIVNHLLRQKLTPEREAQLETSLGTFYAPTRPLLDSTILEYRDQISKYARRFFHHLLRYQRFEKAFLLAVDVGARDLFMDIHYLALDKGELALAEVARKRASDIDAESITSGVELLGPLDRGDMLNEAFIGLSLAPQGEDSFPDNLPPSCPTHRHILQQRILNGSSNRQIIDRRNELEKDICSGFLMTNTCNAEDGELREDGREQEIRDGGSLKMIHFGLV","length":746,"molWeight":85084,"crc64":"585EFED0D93EB3D4","md5":"3A2F83FF991B3E66D14D627FA81B470C"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBUNIT":1,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":3,"DISEASE":3,"SIMILARITY":1,"CAUTION":1},"countByFeatureType":{"Chain":1,"Repeat":2,"Alternative sequence":3,"Natural variant":5,"Beta strand":32,"Helix":14,"Turn":7},"uniParcId":"UPI000013D946"}}