WDR11_DANRE
ID WDR11_DANRE Reviewed; 1239 AA.
AC F1QEB7; F1QHQ4;
DT 10-OCT-2018, integrated into UniProtKB/Swiss-Prot.
DT 03-MAY-2011, sequence version 1.
DT 03-AUG-2022, entry version 65.
DE RecName: Full=WD repeat-containing protein 11 {ECO:0000305};
GN Name=wdr11;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP DEVELOPMENTAL STAGE.
RX PubMed=20887964; DOI=10.1016/j.ajhg.2010.08.018;
RA Kim H.G., Ahn J.W., Kurth I., Ullmann R., Kim H.T., Kulharya A., Ha K.S.,
RA Itokawa Y., Meliciani I., Wenzel W., Lee D., Rosenberger G., Ozata M.,
RA Bick D.P., Sherins R.J., Nagase T., Tekin M., Kim S.H., Kim C.H.,
RA Ropers H.H., Gusella J.F., Kalscheuer V., Choi C.Y., Layman L.C.;
RT "WDR11, a WD protein that interacts with transcription factor EMX1, is
RT mutated in idiopathic hypogonadotropic hypogonadism and Kallmann
RT syndrome.";
RL Am. J. Hum. Genet. 87:465-479(2010).
RN [3]
RP FUNCTION, DISRUPTION PHENOTYPE, AND SUBCELLULAR LOCATION.
RX PubMed=29263200; DOI=10.15252/embr.201744632;
RA Kim Y.J., Osborn D.P., Lee J.Y., Araki M., Araki K., Mohun T.,
RA Kaensaekoski J., Brandstack N., Kim H.T., Miralles F., Kim C.H.,
RA Brown N.A., Kim H.G., Martinez-Barbera J.P., Ataliotis P., Raivio T.,
RA Layman L.C., Kim S.H.;
RT "WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy
RT related to Kallmann syndrome.";
RL EMBO Rep. 19:269-289(2018).
CC -!- FUNCTION: Involved in the Hedgehog (Hh) signaling pathway, is essential
CC for normal ciliogenesis (PubMed:29263200). Regulates the proteolytic
CC processing of gli3 and cooperates with the transcription factor emx1 in
CC the induction of downstream Hh pathway gene expression and
CC gonadotropin-releasing hormone production. WDR11 complex facilitates
CC the tethering of Adaptor protein-1 complex (AP-1)-derived vesicles.
CC {ECO:0000250|UniProtKB:Q9BZH6, ECO:0000269|PubMed:29263200}.
CC -!- SUBUNIT: Component of the complex WDR11.
CC {ECO:0000250|UniProtKB:Q9BZH6}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000250|UniProtKB:Q9BZH6}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q9BZH6}. Nucleus {ECO:0000250|UniProtKB:Q9BZH6}.
CC Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:29263200}.
CC Cytoplasmic vesicle {ECO:0000250|UniProtKB:Q9BZH6}. Golgi apparatus,
CC trans-Golgi network {ECO:0000250|UniProtKB:Q9BZH6}. Note=Shuttles from
CC the cilium to the nucleus in response to Hh signaling. Might be
CC shuttling between the nucleus and the cytoplasm.
CC {ECO:0000250|UniProtKB:Q9BZH6}.
CC -!- DEVELOPMENTAL STAGE: Expressed ubiquitously at 24 hpf.
CC {ECO:0000269|PubMed:20887964}.
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown causes microphtalmia,
CC microcephaly, melanocyte disorganization, curved body axis, motility
CC defects and narrow trunk. Morphants also exhibit aberrant head
CC cartilage formation and cranial-facial dysmorphology.
CC {ECO:0000269|PubMed:29263200}.
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DR EMBL; BX571701; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; XP_687231.3; XM_682139.7.
DR AlphaFoldDB; F1QEB7; -.
DR STRING; 7955.ENSDARP00000102548; -.
DR PaxDb; F1QEB7; -.
DR PRIDE; F1QEB7; -.
DR Ensembl; ENSDART00000114328; ENSDARP00000102548; ENSDARG00000075245.
DR Ensembl; ENSDART00000136977; ENSDARP00000123378; ENSDARG00000075245.
DR GeneID; 558865; -.
DR KEGG; dre:558865; -.
DR CTD; 55717; -.
DR ZFIN; ZDB-GENE-081107-28; wdr11.
DR eggNOG; KOG1912; Eukaryota.
DR GeneTree; ENSGT00390000004068; -.
DR InParanoid; F1QEB7; -.
DR OMA; NAIDWND; -.
DR OrthoDB; 617629at2759; -.
DR PhylomeDB; F1QEB7; -.
DR TreeFam; TF314830; -.
DR Reactome; R-DRE-9013407; RHOH GTPase cycle.
DR PRO; PR:F1QEB7; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 13.
DR Bgee; ENSDARG00000075245; Expressed in brain and 24 other tissues.
DR GO; GO:0005930; C:axoneme; IDA:ZFIN.
DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0031410; C:cytoplasmic vesicle; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0005802; C:trans-Golgi network; ISS:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IMP:ZFIN.
DR GO; GO:0060322; P:head development; ISS:UniProtKB.
DR GO; GO:0007507; P:heart development; ISS:UniProtKB.
DR GO; GO:0006886; P:intracellular protein transport; ISS:UniProtKB.
DR GO; GO:0035264; P:multicellular organism growth; ISS:UniProtKB.
DR GO; GO:0001755; P:neural crest cell migration; IMP:ZFIN.
DR GO; GO:0008589; P:regulation of smoothened signaling pathway; ISS:UniProtKB.
DR GO; GO:0099041; P:vesicle tethering to Golgi; ISS:UniProtKB.
DR Gene3D; 2.130.10.10; -; 3.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR InterPro; IPR039694; WDR11.
DR PANTHER; PTHR14593; PTHR14593; 1.
DR SMART; SM00320; WD40; 6.
DR SUPFAM; SSF50978; SSF50978; 2.
DR PROSITE; PS00678; WD_REPEATS_1; 2.
PE 2: Evidence at transcript level;
KW Cell projection; Cytoplasm; Cytoplasmic vesicle; Cytoskeleton;
KW Golgi apparatus; Nucleus; Phosphoprotein; Reference proteome; Repeat;
KW WD repeat.
FT CHAIN 1..1239
FT /note="WD repeat-containing protein 11"
FT /id="PRO_0000445435"
FT REPEAT 63..112
FT /note="WD 1"
FT /evidence="ECO:0000255"
FT REPEAT 115..158
FT /note="WD 2"
FT /evidence="ECO:0000255"
FT REPEAT 358..398
FT /note="WD 3"
FT /evidence="ECO:0000255"
FT REPEAT 476..515
FT /note="WD 4"
FT /evidence="ECO:0000255"
FT REPEAT 571..610
FT /note="WD 5"
FT /evidence="ECO:0000255"
FT REPEAT 713..750
FT /note="WD 6"
FT /evidence="ECO:0000255"
FT REPEAT 752..792
FT /note="WD 7"
FT /evidence="ECO:0000255"
FT REPEAT 798..836
FT /note="WD 8"
FT /evidence="ECO:0000255"
FT REPEAT 898..944
FT /note="WD 9"
FT /evidence="ECO:0000255"
FT REGION 1213..1239
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1214..1239
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 1239 AA; 137139 MW; 3D1799770FB056ED CRC64;
MASTMIPYTV NIKLAARTLT GTLNLQNKTA VDWGWQGLIA QGCHSSILII DPNTAQTIQV
LERHKANVVK VKWSRENYHH SLSSPYSLRL ASADAAGKII VWDVVSGMAH CEIQEHSKPI
QDMDWLWAQD ASRDLLLAVH PPNYIVLWNG DTGTKLWKKS YAENILSFSF DPFEPSNLAL
LTSEGIVFIT DFSHSKPPGS GGKKVYIASP HSSPAHSKPA AAQPTGAKKA LNKVKVLITN
EKPTAEAVTL NDCLQLSYLP SKRNHMLLLY PREILILDLE LSQTVGVVAI ERSGVPFIQV
IPCAQRDALY CLHENGCITL RVCRSTTPSP NETVTDPEQN SQELVYDLRS QCDAIRVTKT
VRPYRVVICP VNENKAVLVV SDGRVMLWEL KAHASKSSSN LSSGLPPLYS AVNFCGTPLR
QNQKCIPDLS LNSMIGHSLI PGVDSPRPLA DQKEVHLKFL LTGLLSGLPL PPFSLRMCPP
LTTKNINHYQ PLLAVGTSNG SVLVYNLTSG LLHKELSVHS CEVRGIEWIS LTSFLSFATS
VPNNLGLVRN ELQHVDLRTG RCFAFRGERG NDEPAIEMIK VSHLKQYLVV VFRDKPLELW
DVRTGTLLRE MAKNFPTVTA LEWSPSHNLK SLKKKQLAAR EAMARQTTLA DAEQSSVESS
VISLLQDAES KSESSQGISA REHFVFTDTD GQVYHITVEG NTVKDGARIP PDGSMGSIAC
IAWKGDTLVL GDVDGNLNFW DLKARLSRGV PTHRGWVKKI RFAPGKGNQK LLVMYTDGAE
VWDTKEVQMV SSIRVGRNVN YRILDIDWCT SDKVVLASDD GCVRVLEMAM KSASYRMDEQ
DLTDPVWCPY LLLPRAALTL KAFLLLQPWM DTFTMDITQV DYKEKDEIKG LIQEQLNSLS
NDIKSVLQDP NLSLLQRCLL VSRLFGDESD LQFWTVASHY IQAFAQSAQS NESVPEGQAA
ASHLDICHDI LCESSFFQGF QLERVRLQEV KRSSYEHTKK CADQLLLLGQ TDRAVQLLLE
TSADNSSYYC DSLKACLVTT ITSSGPSQST IKLVATNMIA NGKLAEGVQL LCLIDKAADA
CRYLQTYGEW TRAAWLAKVR LNAAEGSDVL KRWAEHLCSP QVNQKSKAML VLLSLGCFQK
VGEMLHSMRY FDRAALFIEA CLKYGVMETN DDINKLVGAA FVDYAKLLRS IGLKQGAVHW
ASRAGEAGKQ LLEDLSQTEG TGTESSPADD TDNSLVNIE