FUZZY_HUMAN
ID FUZZY_HUMAN Reviewed; 418 AA.
AC Q9BT04; B2RD86; B5MDH0; Q6PJY0; Q9H613;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Protein fuzzy homolog;
GN Name=FUZ; Synonyms=FY;
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 [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Heart, and Small intestine;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Eye, and Lung;
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).
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. May regulate the
CC morphogenesis of hair follicles which depends on functional primary
CC cilia (By similarity). {ECO:0000250|UniProtKB:Q3UYI6}.
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:0000250|UniProtKB:Q3UYI6}.
CC -!- INTERACTION:
CC Q9BT04; Q9BU20: CPLANE2; NbExp=8; IntAct=EBI-750341, EBI-750332;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q2HZX7}.
CC Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q2HZX7}. Cytoplasm,
CC cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q3UYI6}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9BT04-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BT04-2; Sequence=VSP_029966;
CC Name=3;
CC IsoId=Q9BT04-3; Sequence=VSP_029965;
CC -!- SIMILARITY: Belongs to the fuzzy family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH10092.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK026341; BAB15454.1; -; mRNA.
DR EMBL; AK315445; BAG37833.1; -; mRNA.
DR EMBL; AC006942; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471177; EAW52538.1; -; Genomic_DNA.
DR EMBL; CH471177; EAW52541.1; -; Genomic_DNA.
DR EMBL; BC004445; AAH04445.1; -; mRNA.
DR EMBL; BC010092; AAH10092.1; ALT_FRAME; mRNA.
DR EMBL; BC016793; AAH16793.1; -; mRNA.
DR CCDS; CCDS12781.1; -. [Q9BT04-1]
DR CCDS; CCDS54293.1; -. [Q9BT04-3]
DR RefSeq; NP_001165408.1; NM_001171937.1. [Q9BT04-3]
DR RefSeq; NP_079405.2; NM_025129.4. [Q9BT04-1]
DR PDB; 7Q3D; EM; 3.35 A; C=1-418.
DR PDBsum; 7Q3D; -.
DR AlphaFoldDB; Q9BT04; -.
DR BioGRID; 123171; 22.
DR ComplexPortal; CPX-5001; CPLANE complex.
DR IntAct; Q9BT04; 3.
DR MINT; Q9BT04; -.
DR STRING; 9606.ENSP00000313309; -.
DR GlyGen; Q9BT04; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9BT04; -.
DR PhosphoSitePlus; Q9BT04; -.
DR BioMuta; FUZ; -.
DR DMDM; 74733071; -.
DR MassIVE; Q9BT04; -.
DR PaxDb; Q9BT04; -.
DR PeptideAtlas; Q9BT04; -.
DR PRIDE; Q9BT04; -.
DR ProteomicsDB; 78936; -. [Q9BT04-1]
DR ProteomicsDB; 78937; -. [Q9BT04-2]
DR ProteomicsDB; 78938; -. [Q9BT04-3]
DR Antibodypedia; 49155; 104 antibodies from 21 providers.
DR DNASU; 80199; -.
DR Ensembl; ENST00000313777.9; ENSP00000313309.4; ENSG00000010361.14. [Q9BT04-1]
DR Ensembl; ENST00000528094.5; ENSP00000435177.1; ENSG00000010361.14. [Q9BT04-3]
DR GeneID; 80199; -.
DR KEGG; hsa:80199; -.
DR MANE-Select; ENST00000313777.9; ENSP00000313309.4; NM_025129.5; NP_079405.2.
DR UCSC; uc002ppq.4; human. [Q9BT04-1]
DR CTD; 80199; -.
DR DisGeNET; 80199; -.
DR GeneCards; FUZ; -.
DR HGNC; HGNC:26219; FUZ.
DR HPA; ENSG00000010361; Tissue enhanced (testis).
DR MalaCards; FUZ; -.
DR MIM; 610622; gene.
DR neXtProt; NX_Q9BT04; -.
DR OpenTargets; ENSG00000010361; -.
DR Orphanet; 1136; Arnold-Chiari malformation type II.
DR Orphanet; 3027; Caudal regression syndrome.
DR Orphanet; 268392; Cervical spina bifida aperta.
DR Orphanet; 268762; Cervical spina bifida cystica.
DR Orphanet; 268397; Cervicothoracic spina bifida aperta.
DR Orphanet; 268766; Cervicothoracic spina bifida cystica.
DR Orphanet; 268388; Lumbosacral spina bifida aperta.
DR Orphanet; 268758; Lumbosacral spina bifida cystica.
DR Orphanet; 268384; Thoracolumbosacral spina bifida aperta.
DR Orphanet; 268752; Thoracolumbosacral spina bifida cystica.
DR Orphanet; 268377; Total spina bifida aperta.
DR Orphanet; 268748; Total spina bifida cystica.
DR Orphanet; 268740; Upper thoracic spina bifida aperta.
DR Orphanet; 268770; Upper thoracic spina bifida cystica.
DR PharmGKB; PA145148782; -.
DR VEuPathDB; HostDB:ENSG00000010361; -.
DR eggNOG; ENOG502QVMY; Eukaryota.
DR GeneTree; ENSGT00390000010727; -.
DR HOGENOM; CLU_041212_1_0_1; -.
DR InParanoid; Q9BT04; -.
DR OMA; YTDCLLA; -.
DR OrthoDB; 723214at2759; -.
DR PhylomeDB; Q9BT04; -.
DR TreeFam; TF324763; -.
DR PathwayCommons; Q9BT04; -.
DR Reactome; R-HSA-5610787; Hedgehog 'off' state.
DR SignaLink; Q9BT04; -.
DR BioGRID-ORCS; 80199; 11 hits in 1081 CRISPR screens.
DR GenomeRNAi; 80199; -.
DR Pharos; Q9BT04; Tbio.
DR PRO; PR:Q9BT04; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9BT04; protein.
DR Bgee; ENSG00000010361; Expressed in right uterine tube and 169 other tissues.
DR ExpressionAtlas; Q9BT04; baseline and differential.
DR Genevisible; Q9BT04; HS.
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:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:0010172; P:embryonic body morphogenesis; ISS:UniProtKB.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; ISS:UniProtKB.
DR GO; GO:0001736; P:establishment of planar polarity; ISS:UniProtKB.
DR GO; GO:0001942; P:hair follicle development; ISS:UniProtKB.
DR GO; GO:0042073; P:intraciliary transport; IC:ComplexPortal.
DR GO; GO:0090090; P:negative regulation of canonical Wnt signaling pathway; ISS:UniProtKB.
DR GO; GO:0030336; P:negative regulation of cell migration; IMP:UniProtKB.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; ISS:UniProtKB.
DR GO; GO:2000314; P:negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation; ISS:UniProtKB.
DR GO; GO:0090301; P:negative regulation of neural crest formation; ISS: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: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; ISS:UniProtKB.
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 3D-structure; Alternative splicing; Cell projection;
KW Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton;
KW Developmental protein; Protein transport; Reference proteome; Transport.
FT CHAIN 1..418
FT /note="Protein fuzzy homolog"
FT /id="PRO_0000312920"
FT VAR_SEQ 71..106
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029965"
FT VAR_SEQ 365..418
FT /note="CYLVLGTEEPGTGVRLVALQLGLRRLLLLLSPQSPTHGLRSLATHTLHALTP
FT LL -> DYLAVGDGHRHGAVSVSLFIRSQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029966"
FT VARIANT 34
FT /note="A -> S (in dbSNP:rs35138412)"
FT /id="VAR_037615"
FT VARIANT 175
FT /note="G -> D (in dbSNP:rs35002951)"
FT /id="VAR_037616"
FT VARIANT 400
FT /note="T -> I (in dbSNP:rs12610577)"
FT /id="VAR_037617"
SQ SEQUENCE 418 AA; 45679 MW; 9967702DC289CD6F CRC64;
MGEEGTGGTV HLLCLAASSG VPLFCRSSRG GAPARQQLPF SVIGSLNGVH MFGQNLEVQL
SSARTENTTV VWKSFHDSIT LIVLSSEVGI SELRLERLLQ MVFGAMVLLV GLEELTNIRN
VERLKKDLRA SYCLIDSFLG DSELIGDLTQ CVDCVIPPEG SLLQEALSGF AEAAGTTFVS
LVVSGRVVAA TEGWWRLGTP EAVLLPWLVG SLPPQTARDY PVYLPHGSPT VPHRLLTLTL
LPSLELCLLC GPSPPLSQLY PQLLERWWQP LLDPLRACLP LGPRALPSGF PLHTDILGLL
LLHLELKRCL FTVEPLGDKE PSPEQRRRLL RNFYTLVTST HFPPEPGPPE KTEDEVYQAQ
LPRACYLVLG TEEPGTGVRL VALQLGLRRL LLLLSPQSPT HGLRSLATHT LHALTPLL
