FUZZY_MOUSE
ID FUZZY_MOUSE Reviewed; 415 AA.
AC Q3UYI6; Q9D0P9;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 2.
DT 03-AUG-2022, entry version 95.
DE RecName: Full=Protein fuzzy homolog;
GN Name=Fuz;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC STRAIN=C57BL/6J; TISSUE=Medulla oblongata;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
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 [3]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=19877275; DOI=10.1002/dvdy.22130;
RA Heydeck W., Zeng H., Liu A.;
RT "Planar cell polarity effector gene Fuzzy regulates cilia formation and
RT Hedgehog signal transduction in mouse.";
RL Dev. Dyn. 238:3035-3042(2009).
RN [4]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=19767740; DOI=10.1038/ncb1966;
RA Gray R.S., Abitua P.B., Wlodarczyk B.J., Szabo-Rogers H.L., Blanchard O.,
RA Lee I., Weiss G.S., Liu K.J., Marcotte E.M., Wallingford J.B.,
RA Finnell R.H.;
RT "The planar cell polarity effector Fuz is essential for targeted membrane
RT trafficking, ciliogenesis and mouse embryonic development.";
RL Nat. Cell Biol. 11:1225-1232(2009).
RN [5]
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=20962855; DOI=10.1038/jid.2010.306;
RA Dai D., Zhu H., Wlodarczyk B., Zhang L., Li L., Li A.G., Finnell R.H.,
RA Roop D.R., Chen J.;
RT "Fuz controls the morphogenesis and differentiation of hair follicles
RT through the formation of primary cilia.";
RL J. Invest. Dermatol. 131:302-310(2011).
RN [6]
RP INTERACTION WITH CPLANE1, FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=27158779; DOI=10.1038/ng.3558;
RA Toriyama M., Lee C., Taylor S.P., Duran I., Cohn D.H., Bruel A.L.,
RA Tabler J.M., Drew K., Kelly M.R., Kim S., Park T.J., Braun D.A.,
RA Pierquin G., Biver A., Wagner K., Malfroot A., Panigrahi I., Franco B.,
RA Al-Lami H.A., Yeung Y., Choi Y.J., Duffourd Y., Faivre L., Riviere J.B.,
RA Chen J., Liu K.J., Marcotte E.M., Hildebrandt F., Thauvin-Robinet C.,
RA Krakow D., Jackson P.K., Wallingford J.B.;
RT "The ciliopathy-associated CPLANE proteins direct basal body recruitment of
RT intraflagellar transport machinery.";
RL Nat. Genet. 48:648-656(2016).
CC -!- FUNCTION: Probable planar cell polarity effector involved in cilium
CC biogenesis. May regulate protein and membrane transport to the cilium.
CC Proposed to function as core component of the CPLANE (ciliogenesis and
CC planar polarity effectors) complex involved in the recruitment of
CC peripheral IFT-A proteins to basal bodies (PubMed:19877275,
CC PubMed:19767740, PubMed:27158779). May regulate the morphogenesis of
CC hair follicles which depends on functional primary cilia
CC (PubMed:20962855). {ECO:0000269|PubMed:19767740,
CC ECO:0000269|PubMed:19877275, ECO:0000269|PubMed:20962855,
CC ECO:0000305|PubMed:27158779}.
CC -!- SUBUNIT: Interacts with CPLANE1. Interacts with INTU and WDPCP; FUZ,
CC INTU and WDPCP probably form the core CPLANE (ciliogenesis and planar
CC polarity effectors) complex. {ECO:0000269|PubMed:27158779}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q2HZX7}.
CC Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q2HZX7}. Cytoplasm,
CC cytoskeleton, cilium basal body {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q3UYI6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3UYI6-2; Sequence=VSP_029967, VSP_029968;
CC -!- TISSUE SPECIFICITY: Expressed in dermal and epidermal cells.
CC {ECO:0000269|PubMed:20962855}.
CC -!- DISRUPTION PHENOTYPE: Embryonically lethal. Embryos display severe
CC developmental defects, including neural tube closure defects, abnormal
CC patterning of the spinal cord and the limb buds. They display
CC polydactyly on all limbs and defects in skeletal development and
CC organogenesis, including malformed sternum, ribs and long bones, as
CC well as severely hypoplastic lungs and conotruncal defects. The number
CC of hair follicles is also reduced. Defects in ciliogenesis are clearly
CC noticed and result in abnormal hedgehog/smoothened signaling.
CC {ECO:0000269|PubMed:19767740, ECO:0000269|PubMed:19877275,
CC ECO:0000269|PubMed:27158779}.
CC -!- SIMILARITY: Belongs to the fuzzy family. {ECO:0000305}.
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DR EMBL; AK011195; BAB27459.1; -; mRNA.
DR EMBL; AK134650; BAE22226.1; -; mRNA.
DR EMBL; BC045601; AAH45601.1; -; mRNA.
DR CCDS; CCDS52237.1; -. [Q3UYI6-1]
DR RefSeq; NP_081652.2; NM_027376.3.
DR AlphaFoldDB; Q3UYI6; -.
DR ComplexPortal; CPX-5026; CPLANE complex.
DR CORUM; Q3UYI6; -.
DR STRING; 10090.ENSMUSP00000071194; -.
DR PhosphoSitePlus; Q3UYI6; -.
DR PaxDb; Q3UYI6; -.
DR PRIDE; Q3UYI6; -.
DR ProteomicsDB; 273392; -. [Q3UYI6-1]
DR Antibodypedia; 49155; 104 antibodies from 21 providers.
DR Ensembl; ENSMUST00000209132; ENSMUSP00000146434; ENSMUSG00000011658. [Q3UYI6-2]
DR GeneID; 70300; -.
DR KEGG; mmu:70300; -.
DR CTD; 80199; -.
DR MGI; MGI:1917550; Fuz.
DR VEuPathDB; HostDB:ENSMUSG00000011658; -.
DR eggNOG; ENOG502QVMY; Eukaryota.
DR GeneTree; ENSGT00390000010727; -.
DR HOGENOM; CLU_1708347_0_0_1; -.
DR InParanoid; Q3UYI6; -.
DR OrthoDB; 723214at2759; -.
DR PhylomeDB; Q3UYI6; -.
DR Reactome; R-MMU-5610787; Hedgehog 'off' state.
DR BioGRID-ORCS; 70300; 3 hits in 72 CRISPR screens.
DR PRO; PR:Q3UYI6; -.
DR Proteomes; UP000000589; Chromosome 7.
DR RNAct; Q3UYI6; protein.
DR Bgee; ENSMUSG00000011658; Expressed in interventricular septum and 85 other tissues.
DR ExpressionAtlas; Q3UYI6; baseline and differential.
DR GO; GO:0005929; C:cilium; IC:ComplexPortal.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-SubCell.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IMP:MGI.
DR GO; GO:0035904; P:aorta development; IMP:MGI.
DR GO; GO:0003279; P:cardiac septum development; IMP:MGI.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0060976; P:coronary vasculature development; IMP:MGI.
DR GO; GO:0010172; P:embryonic body morphogenesis; IMP:UniProtKB.
DR GO; GO:0042733; P:embryonic digit morphogenesis; IMP:MGI.
DR GO; GO:0048702; P:embryonic neurocranium morphogenesis; IMP:MGI.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; IMP:UniProtKB.
DR GO; GO:0001736; P:establishment of planar polarity; IMP:UniProtKB.
DR GO; GO:0001942; P:hair follicle development; IMP:UniProtKB.
DR GO; GO:0042073; P:intraciliary transport; IC:ComplexPortal.
DR GO; GO:0120223; P:larynx morphogenesis; IMP:MGI.
DR GO; GO:0090090; P:negative regulation of canonical Wnt signaling pathway; IMP:UniProtKB.
DR GO; GO:0030336; P:negative regulation of cell migration; ISS:UniProtKB.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; IMP:UniProtKB.
DR GO; GO:2000314; P:negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation; IMP:UniProtKB.
DR GO; GO:0090301; P:negative regulation of neural crest formation; IMP:UniProtKB.
DR GO; GO:0001843; P:neural tube closure; IMP:UniProtKB.
DR GO; GO:0021915; P:neural tube development; IC:ComplexPortal.
DR GO; GO:1905515; P:non-motile cilium assembly; IMP:UniProtKB.
DR GO; GO:0045724; P:positive regulation of cilium assembly; IMP:UniProtKB.
DR GO; GO:0010954; P:positive regulation of protein processing; IMP:MGI.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR GO; GO:1902017; P:regulation of cilium assembly; IC:ComplexPortal.
DR GO; GO:0008589; P:regulation of smoothened signaling pathway; IMP:UniProtKB.
DR GO; GO:0060021; P:roof of mouth development; IMP:MGI.
DR GO; GO:0021510; P:spinal cord development; IMP:MGI.
DR GO; GO:0021513; P:spinal cord dorsal/ventral patterning; IMP:MGI.
DR GO; GO:0043587; P:tongue morphogenesis; IMP:MGI.
DR GO; GO:0016192; P:vesicle-mediated transport; IEA:InterPro.
DR InterPro; IPR043972; FUZ/MON1/HPS1_longin_1.
DR InterPro; IPR043971; FUZ/MON1/HPS1_longin_2.
DR InterPro; IPR043970; FUZ/MON1/HPS1_longin_3.
DR InterPro; IPR026069; Fuzzy.
DR PANTHER; PTHR13559; PTHR13559; 1.
DR Pfam; PF19036; Fuz_longin_1; 1.
DR Pfam; PF19037; Fuz_longin_2; 1.
DR Pfam; PF19038; Fuz_longin_3; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium biogenesis/degradation;
KW Cytoplasm; Cytoskeleton; Developmental protein; Protein transport;
KW Reference proteome; Transport.
FT CHAIN 1..415
FT /note="Protein fuzzy homolog"
FT /id="PRO_0000312921"
FT VAR_SEQ 165..169
FT /note="ETLSG -> VLGQL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16141072"
FT /id="VSP_029967"
FT VAR_SEQ 170..415
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16141072"
FT /id="VSP_029968"
FT CONFLICT 101
FT /note="M -> I (in Ref. 1; BAE22226)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 415 AA; 45588 MW; 83FD5B913886DB78 CRC64;
MGDEGPGSPV HLLCLAASSG VPLFCRSSSG GAPSRQQLPF SVIGSLNGVH MFGQNLDVQL
NSARTEDTTV VWKNFHDSIT LIVLSSEEGT SELRLERMLH MVFGAMVLIV GLEELTNIRN
VERLKKELRA SYCLIDSFLG NSELIGDLTQ CVDCVIPPEG SAMQETLSGF AEATGTAFVS
LLVSGRVVAA TEGWWRLGMP EAVLLPWLVG SLPPQAARDY PVYLPHGSPT VPHRLLTLTL
LRGLELCLLC GPRPPLGQLD PQLMERWWQP LLEPLRACLP LGPRALPEGF PLHSDILGLL
LLHLELRRCL FTMEPSKDKE PSPEQRRRLL RNFYTLVATT HFPPEPGPAE KQEDTVYPAQ
MPRACYLVLG PGMGWQLVAV QLGLRLLLLL LSPHTPTHGL RSLATRTLQA LTPLL
