WDR19_HUMAN
ID WDR19_HUMAN Reviewed; 1342 AA.
AC Q8NEZ3; B5MEF2; Q8N5B4; Q9H5S0; Q9HCD4;
DT 02-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 02-MAY-2006, sequence version 2.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=WD repeat-containing protein 19 {ECO:0000305};
DE AltName: Full=Intraflagellar transport 144 homolog;
GN Name=WDR19 {ECO:0000312|HGNC:HGNC:18340};
GN Synonyms=IFT144 {ECO:0000303|PubMed:25860617, ECO:0000303|PubMed:27932497},
GN KIAA1638;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, TISSUE
RP SPECIFICITY, AND INDUCTION.
RX PubMed=12906858; DOI=10.1016/s0888-7543(03)00151-4;
RA Lin B., White J.T., Utleg A.G., Wang S., Ferguson C., True L.D.,
RA Vessella R., Hood L., Nelson P.S.;
RT "Isolation and characterization of human and mouse WDR19,a novel WD-repeat
RT protein exhibiting androgen-regulated expression in prostate epithelium.";
RL Genomics 82:331-342(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Lung;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Eye;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 335-1239.
RC TISSUE=Brain;
RX PubMed=10997877; DOI=10.1093/dnares/7.4.271;
RA Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:273-281(2000).
RN [7]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [8]
RP FUNCTION, AND IDENTIFICATION IN THE IFT-A COMPLEX.
RX PubMed=20889716; DOI=10.1101/gad.1966210;
RA Mukhopadhyay S., Wen X., Chih B., Nelson C.D., Lane W.S., Scales S.J.,
RA Jackson P.K.;
RT "TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote
RT trafficking of G protein-coupled receptors into primary cilia.";
RL Genes Dev. 24:2180-2193(2010).
RN [9]
RP FUNCTION, AND IDENTIFICATION IN THE IFT-A COMPLEX.
RX PubMed=27932497; DOI=10.1091/mbc.e16-11-0813;
RA Hirano T., Katoh Y., Nakayama K.;
RT "Intraflagellar transport-A complex mediates ciliary entry and retrograde
RT trafficking of ciliary G protein-coupled receptors.";
RL Mol. Biol. Cell 28:429-439(2017).
RN [10]
RP IDENTIFICATION IN THE IFT-A COMPLEX.
RX PubMed=29220510; DOI=10.1093/hmg/ddx421;
RA Takahara M., Katoh Y., Nakamura K., Hirano T., Sugawa M., Tsurumi Y.,
RA Nakayama K.;
RT "Ciliopathy-associated mutations of IFT122 impair ciliary protein
RT trafficking but not ciliogenesis.";
RL Hum. Mol. Genet. 27:516-528(2018).
RN [11]
RP INVOLVEMENT IN SLSN8, AND VARIANTS SLSN8 PRO-30; ASP-68; GLU-109; CYS-272;
RP HIS-493 AND SER-710.
RX PubMed=23683095; DOI=10.1111/cge.12196;
RA Coussa R.G., Otto E.A., Gee H.Y., Arthurs P., Ren H., Lopez I., Keser V.,
RA Fu Q., Faingold R., Khan A., Schwartzentruber J., Majewski J.,
RA Hildebrandt F., Koenekoop R.K.;
RT "WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated
RT in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.";
RL Clin. Genet. 84:150-159(2013).
RN [12]
RP INVOLVEMENT IN SLSN8, AND VARIANTS SLSN8 HIS-493; GLN-1178 AND LYS-1235.
RX PubMed=23559409; DOI=10.1007/s00439-013-1297-0;
RA Halbritter J., Porath J.D., Diaz K.A., Braun D.A., Kohl S., Chaki M.,
RA Allen S.J., Soliman N.A., Hildebrandt F., Otto E.A.;
RT "Identification of 99 novel mutations in a worldwide cohort of 1,056
RT patients with a nephronophthisis-related ciliopathy.";
RL Hum. Genet. 132:865-884(2013).
RN [13]
RP INTERACTION WITH TTC25.
RX PubMed=25860617; DOI=10.1371/journal.pone.0124378;
RA Xu Y., Cao J., Huang S., Feng D., Zhang W., Zhu X., Yan X.;
RT "Characterization of tetratricopeptide repeat-containing proteins critical
RT for cilia formation and function.";
RL PLoS ONE 10:E0124378-E0124378(2015).
RN [14]
RP VARIANT SRTD5 PRO-7, VARIANT NPHP13 GLY-345, AND VARIANT CED4 SER-710.
RX PubMed=22019273; DOI=10.1016/j.ajhg.2011.10.001;
RA Bredrup C., Saunier S., Oud M.M., Fiskerstrand T., Hoischen A.,
RA Brackman D., Leh S.M., Midtbo M., Filhol E., Bole-Feysot C., Nitschke P.,
RA Gilissen C., Haugen O.H., Sanders J.S., Stolte-Dijkstra I., Mans D.A.,
RA Steenbergen E.J., Hamel B.C., Matignon M., Pfundt R., Jeanpierre C.,
RA Boman H., Rodahl E., Veltman J.A., Knappskog P.M., Knoers N.V., Roepman R.,
RA Arts H.H.;
RT "Ciliopathies with skeletal anomalies and renal insufficiency due to
RT mutations in the IFT-A gene WDR19.";
RL Am. J. Hum. Genet. 89:634-643(2011).
CC -!- FUNCTION: As component of the IFT complex A (IFT-A), a complex required
CC for retrograde ciliary transport and entry into cilia of G protein-
CC coupled receptors (GPCRs), it is involved in cilia function and/or
CC assembly (PubMed:20889716). Essential for functional IFT-A assembly and
CC ciliary entry of GPCRs (PubMed:20889716). Associates with the BBSome
CC complex to mediate ciliary transport (By similarity).
CC {ECO:0000250|UniProtKB:Q3UGF1, ECO:0000269|PubMed:20889716}.
CC -!- SUBUNIT: Component of the IFT complex A (IFT-A) complex
CC (PubMed:20889716, PubMed:27932497). IFT-A complex is divided into a
CC core subcomplex composed of IFT122:IFT140:WDR19 which is associated
CC with TULP3 and a peripheral subcomplex composed of IFT43:WDR35:TTC21B
CC (PubMed:27932497, PubMed:29220510). Interacts (via C-terminal region)
CC with IFT122 (via C-terminal region) (PubMed:29220510). Interacts with
CC BBS1 (By similarity). Interacts with TTC25 (PubMed:25860617).
CC {ECO:0000250|UniProtKB:Q3UGF1, ECO:0000269|PubMed:20889716,
CC ECO:0000269|PubMed:25860617, ECO:0000269|PubMed:27932497,
CC ECO:0000269|PubMed:29220510}.
CC -!- INTERACTION:
CC Q8NEZ3; Q9HBG6: IFT122; NbExp=5; IntAct=EBI-11903679, EBI-2805994;
CC Q8NEZ3; Q96RY7: IFT140; NbExp=8; IntAct=EBI-11903679, EBI-308494;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000250|UniProtKB:Q3UGF1}. Cytoplasm, cytoskeleton, cilium basal
CC body {ECO:0000250|UniProtKB:Q3UGF1}. Cell projection, cilium,
CC photoreceptor outer segment {ECO:0000250|UniProtKB:Q3UGF1}.
CC Note=Localizes to photoreceptor connecting cilia, to the base of motile
CC cilia in brain ependymal cells and to the base of and along primary
CC cilia in kidney cells. {ECO:0000250|UniProtKB:Q3UGF1}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NEZ3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NEZ3-2; Sequence=VSP_018073, VSP_018074;
CC -!- TISSUE SPECIFICITY: Some isoforms are tissue-specific. Highly expressed
CC in the prostate. Lower expression in the cerebellum, pituitary gland,
CC fetal lung, and pancreas. In normal prostate, expressed in both basal
CC and luminal epithelial cells. No expression detected in fibromuscular
CC stromal cells, endothelial cells, or infiltrating lymphocytes.
CC Uniformed expression in prostate adenocarcinoma cells.
CC {ECO:0000269|PubMed:12906858}.
CC -!- DEVELOPMENTAL STAGE: Expressed in fetal lung.
CC -!- INDUCTION: By androgenic hormones. Expression increased 3-fold in an
CC androgen-stimulated androgen-sensitive prostate adenocarcinoma cell
CC line compared with androgen-deprived cells.
CC {ECO:0000269|PubMed:12906858}.
CC -!- DISEASE: Cranioectodermal dysplasia 4 (CED4) [MIM:614378]: A disorder
CC primarily characterized by craniofacial, skeletal and ectodermal
CC abnormalities. Clinical features include craniosynostosis, narrow rib
CC cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth,
CC sparse hair, skin laxity and abnormal nails. Nephronophthisis leading
CC to progressive renal failure, hepatic fibrosis, heart defects, and
CC retinitis pigmentosa have also been described.
CC {ECO:0000269|PubMed:22019273}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Short-rib thoracic dysplasia 5 with or without polydactyly
CC (SRTD5) [MIM:614376]: A form of short-rib thoracic dysplasia, a group
CC of autosomal recessive ciliopathies that are characterized by a
CC constricted thoracic cage, short ribs, shortened tubular bones, and a
CC 'trident' appearance of the acetabular roof. Polydactyly is variably
CC present. Non-skeletal involvement can include cleft lip/palate as well
CC as anomalies of major organs such as the brain, eye, heart, kidneys,
CC liver, pancreas, intestines, and genitalia. Some forms of the disease
CC are lethal in the neonatal period due to respiratory insufficiency
CC secondary to a severely restricted thoracic cage, whereas others are
CC compatible with life. Disease spectrum encompasses Ellis-van Creveld
CC syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-
CC Saldino syndrome, and short rib-polydactyly syndrome.
CC {ECO:0000269|PubMed:22019273}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Nephronophthisis 13 (NPHP13) [MIM:614377]: An autosomal
CC recessive disorder resulting in end-stage renal disease. It is a
CC progressive tubulo-interstitial kidney disorder histologically
CC characterized by modifications of the tubules with thickening of the
CC basement membrane, interstitial fibrosis and, in the advanced stages,
CC medullary cysts. {ECO:0000269|PubMed:22019273}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- DISEASE: Senior-Loken syndrome 8 (SLSN8) [MIM:616307]: A renal-retinal
CC disorder characterized by progressive wasting of the filtering unit of
CC the kidney (nephronophthisis), with or without medullary cystic renal
CC disease, and progressive eye disease. Typically this disorder becomes
CC apparent during the first year of life. {ECO:0000269|PubMed:23559409,
CC ECO:0000269|PubMed:23683095}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH32578.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AY029257; AAK38745.1; -; mRNA.
DR EMBL; AK026780; BAB15550.1; -; mRNA.
DR EMBL; AC093855; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471069; EAW92921.1; -; Genomic_DNA.
DR EMBL; BC032578; AAH32578.1; ALT_FRAME; mRNA.
DR EMBL; AB046858; BAB13464.1; -; mRNA.
DR CCDS; CCDS47042.1; -. [Q8NEZ3-1]
DR RefSeq; NP_001304853.1; NM_001317924.1.
DR RefSeq; NP_079408.3; NM_025132.3. [Q8NEZ3-1]
DR AlphaFoldDB; Q8NEZ3; -.
DR SMR; Q8NEZ3; -.
DR BioGRID; 121748; 30.
DR ComplexPortal; CPX-5021; IFT-A complex.
DR CORUM; Q8NEZ3; -.
DR IntAct; Q8NEZ3; 21.
DR MINT; Q8NEZ3; -.
DR STRING; 9606.ENSP00000382717; -.
DR iPTMnet; Q8NEZ3; -.
DR PhosphoSitePlus; Q8NEZ3; -.
DR BioMuta; WDR19; -.
DR DMDM; 94730676; -.
DR EPD; Q8NEZ3; -.
DR jPOST; Q8NEZ3; -.
DR MassIVE; Q8NEZ3; -.
DR MaxQB; Q8NEZ3; -.
DR PaxDb; Q8NEZ3; -.
DR PeptideAtlas; Q8NEZ3; -.
DR PRIDE; Q8NEZ3; -.
DR ProteomicsDB; 73250; -. [Q8NEZ3-1]
DR ProteomicsDB; 73251; -. [Q8NEZ3-2]
DR Antibodypedia; 23402; 126 antibodies from 20 providers.
DR DNASU; 57728; -.
DR Ensembl; ENST00000399820.8; ENSP00000382717.3; ENSG00000157796.18. [Q8NEZ3-1]
DR GeneID; 57728; -.
DR KEGG; hsa:57728; -.
DR MANE-Select; ENST00000399820.8; ENSP00000382717.3; NM_025132.4; NP_079408.3.
DR UCSC; uc003gtv.3; human. [Q8NEZ3-1]
DR CTD; 57728; -.
DR DisGeNET; 57728; -.
DR GeneCards; WDR19; -.
DR GeneReviews; WDR19; -.
DR HGNC; HGNC:18340; WDR19.
DR HPA; ENSG00000157796; Low tissue specificity.
DR MalaCards; WDR19; -.
DR MIM; 608151; gene.
DR MIM; 614376; phenotype.
DR MIM; 614377; phenotype.
DR MIM; 614378; phenotype.
DR MIM; 616307; phenotype.
DR neXtProt; NX_Q8NEZ3; -.
DR OpenTargets; ENSG00000157796; -.
DR Orphanet; 1515; Cranioectodermal dysplasia.
DR Orphanet; 474; Jeune syndrome.
DR Orphanet; 93592; Juvenile nephronophthisis.
DR Orphanet; 3156; Senior-Loken syndrome.
DR PharmGKB; PA38317; -.
DR VEuPathDB; HostDB:ENSG00000157796; -.
DR eggNOG; KOG2247; Eukaryota.
DR GeneTree; ENSGT00590000083165; -.
DR HOGENOM; CLU_003002_2_0_1; -.
DR InParanoid; Q8NEZ3; -.
DR OMA; KNTIPFC; -.
DR OrthoDB; 215211at2759; -.
DR PhylomeDB; Q8NEZ3; -.
DR TreeFam; TF314758; -.
DR PathwayCommons; Q8NEZ3; -.
DR Reactome; R-HSA-5610787; Hedgehog 'off' state.
DR Reactome; R-HSA-5620924; Intraflagellar transport.
DR SignaLink; Q8NEZ3; -.
DR BioGRID-ORCS; 57728; 13 hits in 1081 CRISPR screens.
DR ChiTaRS; WDR19; human.
DR GenomeRNAi; 57728; -.
DR Pharos; Q8NEZ3; Tbio.
DR PRO; PR:Q8NEZ3; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q8NEZ3; protein.
DR Bgee; ENSG00000157796; Expressed in right uterine tube and 177 other tissues.
DR ExpressionAtlas; Q8NEZ3; baseline and differential.
DR Genevisible; Q8NEZ3; HS.
DR GO; GO:0097542; C:ciliary tip; TAS:Reactome.
DR GO; GO:0005929; C:cilium; IBA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR GO; GO:0030991; C:intraciliary transport particle A; IDA:UniProtKB.
DR GO; GO:0031514; C:motile cilium; ISS:UniProtKB.
DR GO; GO:0097730; C:non-motile cilium; ISS:UniProtKB.
DR GO; GO:0032391; C:photoreceptor connecting cilium; ISS:UniProtKB.
DR GO; GO:0001750; C:photoreceptor outer segment; IEA:UniProtKB-SubCell.
DR GO; GO:0000902; P:cell morphogenesis; IEA:Ensembl.
DR GO; GO:0060830; P:ciliary receptor clustering involved in smoothened signaling pathway; IEA:Ensembl.
DR GO; GO:0060271; P:cilium assembly; IBA:GO_Central.
DR GO; GO:0055123; P:digestive system development; IEA:Ensembl.
DR GO; GO:0042471; P:ear morphogenesis; IEA:Ensembl.
DR GO; GO:0031076; P:embryonic camera-type eye development; IEA:Ensembl.
DR GO; GO:0048701; P:embryonic cranial skeleton morphogenesis; IEA:Ensembl.
DR GO; GO:0030326; P:embryonic limb morphogenesis; IEA:Ensembl.
DR GO; GO:0008406; P:gonad development; IEA:Ensembl.
DR GO; GO:0001701; P:in utero embryonic development; IEA:Ensembl.
DR GO; GO:0035721; P:intraciliary retrograde transport; IMP:MGI.
DR GO; GO:0061055; P:myotome development; IEA:Ensembl.
DR GO; GO:0050877; P:nervous system process; IEA:Ensembl.
DR GO; GO:1903441; P:protein localization to ciliary membrane; IMP:UniProtKB.
DR GO; GO:0065003; P:protein-containing complex assembly; IMP:UniProtKB.
DR GO; GO:0060831; P:smoothened signaling pathway involved in dorsal/ventral neural tube patterning; IEA:Ensembl.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR040379; WDR19/dyf-2.
DR InterPro; IPR039468; WDR19_WD40_rpt.
DR PANTHER; PTHR14920; PTHR14920; 1.
DR Pfam; PF15911; WD40_3; 1.
DR SMART; SM00320; WD40; 5.
DR SUPFAM; SSF48452; SSF48452; 1.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy; Cilium;
KW Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton; Disease variant;
KW Ectodermal dysplasia; Leber congenital amaurosis; Nephronophthisis;
KW Reference proteome; Repeat; Senior-Loken syndrome; TPR repeat; WD repeat.
FT CHAIN 1..1342
FT /note="WD repeat-containing protein 19"
FT /id="PRO_0000233156"
FT REPEAT 11..51
FT /note="WD 1"
FT REPEAT 52..92
FT /note="WD 2"
FT REPEAT 95..134
FT /note="WD 3"
FT REPEAT 137..175
FT /note="WD 4"
FT REPEAT 273..311
FT /note="WD 5"
FT REPEAT 317..356
FT /note="WD 6"
FT REPEAT 736..769
FT /note="TPR 1"
FT REPEAT 775..808
FT /note="TPR 2"
FT REPEAT 840..873
FT /note="TPR 3"
FT REPEAT 895..928
FT /note="TPR 4"
FT REPEAT 951..984
FT /note="TPR 5"
FT REPEAT 1020..1053
FT /note="TPR 6"
FT VAR_SEQ 453..474
FT /note="IESEILDAQEERETRLFPAVDD -> KAKSWMLTKNVRLGFSQQWMISAVSY
FT AMP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_018073"
FT VAR_SEQ 475..1342
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_018074"
FT VARIANT 7
FT /note="L -> P (in SRTD5; dbSNP:rs387906982)"
FT /evidence="ECO:0000269|PubMed:22019273"
FT /id="VAR_067312"
FT VARIANT 30
FT /note="A -> P (in SLSN8; dbSNP:rs776967770)"
FT /evidence="ECO:0000269|PubMed:23683095"
FT /id="VAR_073673"
FT VARIANT 68
FT /note="V -> D (in SLSN8; dbSNP:rs786204852)"
FT /evidence="ECO:0000269|PubMed:23683095"
FT /id="VAR_073674"
FT VARIANT 109
FT /note="G -> E (in SLSN8; dbSNP:rs766029437)"
FT /evidence="ECO:0000269|PubMed:23683095"
FT /id="VAR_073675"
FT VARIANT 272
FT /note="R -> C (in SLSN8; dbSNP:rs199812132)"
FT /evidence="ECO:0000269|PubMed:23683095"
FT /id="VAR_073676"
FT VARIANT 345
FT /note="V -> G (in NPHP13; dbSNP:rs387906983)"
FT /evidence="ECO:0000269|PubMed:22019273"
FT /id="VAR_067313"
FT VARIANT 493
FT /note="D -> H (in SLSN8; dbSNP:rs587777349)"
FT /evidence="ECO:0000269|PubMed:23559409,
FT ECO:0000269|PubMed:23683095"
FT /id="VAR_073677"
FT VARIANT 710
FT /note="L -> S (in CED4 and SLSN8; dbSNP:rs387906980)"
FT /evidence="ECO:0000269|PubMed:22019273,
FT ECO:0000269|PubMed:23683095"
FT /id="VAR_067314"
FT VARIANT 1084
FT /note="G -> S (in dbSNP:rs16995209)"
FT /id="VAR_053424"
FT VARIANT 1178
FT /note="R -> Q (in SLSN8; dbSNP:rs79436363)"
FT /evidence="ECO:0000269|PubMed:23559409"
FT /id="VAR_073678"
FT VARIANT 1235
FT /note="E -> K (in SLSN8; dbSNP:rs587777351)"
FT /evidence="ECO:0000269|PubMed:23559409"
FT /id="VAR_073679"
FT CONFLICT 22
FT /note="Q -> K (in Ref. 1; AAK38745)"
FT /evidence="ECO:0000305"
FT CONFLICT 122
FT /note="L -> V (in Ref. 2; BAB15550)"
FT /evidence="ECO:0000305"
FT CONFLICT 153
FT /note="L -> P (in Ref. 2; BAB15550)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1342 AA; 151581 MW; FF3DD302231CB5F6 CRC64;
MKRIFSLLEK TWLGAPIQFA WQKTSGNYLA VTGADYIVKI FDRHGQKRSE INLPGNCVAM
DWDKDGDVLA VIAEKSSCIY LWDANTNKTS QLDNGMRDQM SFLLWSKVGS FLAVGTVKGN
LLIYNHQTSR KIPVLGKHTK RITCGCWNAE NLLALGGEDK MITVSNQEGD TIRQTQVRSE
PSNMQFFLMK MDDRTSAAES MISVVLGKKT LFFLNLNEPD NPADLEFQQD FGNIVCYNWY
GDGRIMIGFS CGHFVVISTH TGELGQEIFQ ARNHKDNLTS IAVSQTLNKV ATCGDNCIKI
QDLVDLKDMY VILNLDEENK GLGTLSWTDD GQLLALSTQR GSLHVFLTKL PILGDACSTR
IAYLTSLLEV TVANPVEGEL PITVSVDVEP NFVAVGLYHL AVGMNNRAWF YVLGENAVKK
LKDMEYLGTV ASICLHSDYA AALFEGKVQL HLIESEILDA QEERETRLFP AVDDKCRILC
HALTSDFLIY GTDTGVVQYF YIEDWQFVND YRHPVSVKKI FPDPNGTRLV FIDEKSDGFV
YCPVNDATYE IPDFSPTIKG VLWENWPMDK GVFIAYDDDK VYTYVFHKDT IQGAKVILAG
STKVPFAHKP LLLYNGELTC QTQSGKVNNI YLSTHGFLSN LKDTGPDELR PMLAQNLMLK
RFSDAWEMCR ILNDEAAWNE LARACLHHME VEFAIRVYRR IGNVGIVMSL EQIKGIEDYN
LLAGHLAMFT NDYNLAQDLY LASSCPIAAL EMRRDLQHWD SALQLAKHLA PDQIPFISKE
YAIQLEFAGD YVNALAHYEK GITGDNKEHD EACLAGVAQM SIRMGDIRRG VNQALKHPSR
VLKRDCGAIL ENMKQFSEAA QLYEKGLYYD KAASVYIRSK NWAKVGDLLP HVSSPKIHLQ
YAKAKEADGR YKEAVVAYEN AKQWQSVIRI YLDHLNNPEK AVNIVRETQS LDGAKMVARF
FLQLGDYGSA IQFLVMSKCN NEAFTLAQQH NKMEIYADII GSEDTTNEDY QSIALYFEGE
KRYLQAGKFF LLCGQYSRAL KHFLKCPSSE DNVAIEMAIE TVGQAKDELL TNQLIDHLLG
ENDGMPKDAK YLFRLYMALK QYREAAQTAI IIAREEQSAG NYRNAHDVLF SMYAELKSQK
IKIPSEMATN LMILHSYILV KIHVKNGDHM KGARMLIRVA NNISKFPSHI VPILTSTVIE
CHRAGLKNSA FSFAAMLMRP EYRSKIDAKY KKKIEGMVRR PDISEIEEAT TPCPFCKFLL
PECELLCPGC KNSIPYCIAT GRHMLKDDWT VCPHCDFPAL YSELKIMLNT ESTCPMCSER
LNAAQLKKIS DCTQYLRTEE EL
