LOCUS       NM_025129               1728 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens fuzzy planar cell polarity protein (FUZ), transcript
            variant 1, mRNA.
ACCESSION   NM_025129
VERSION     NM_025129.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1728)
  AUTHORS   Singh,S., Nampoothiri,S., Narayanan,D.L., Chaudhry,C., Salvankar,S.
            and Girisha,K.M.
  TITLE     Biallelic loss of function variants in FUZ result in an
            orofaciodigital syndrome
  JOURNAL   Eur J Hum Genet 32 (8), 1022-1026 (2024)
   PUBMED   38702430
  REMARK    GeneRIF: Biallelic loss of function variants in FUZ result in an
            orofaciodigital syndrome.
REFERENCE   2  (bases 1 to 1728)
  AUTHORS   Langousis,G., Cavadini,S., Boegholm,N., Lorentzen,E., Kempf,G. and
            Matthias,P.
  TITLE     Structure of the ciliogenesis-associated CPLANE complex
  JOURNAL   Sci Adv 8 (15), eabn0832 (2022)
   PUBMED   35427153
REFERENCE   3  (bases 1 to 1728)
  AUTHORS   Qin,Y., Huttlin,E.L., Winsnes,C.F., Gosztyla,M.L., Wacheul,L.,
            Kelly,M.R., Blue,S.M., Zheng,F., Chen,M., Schaffer,L.V., Licon,K.,
            Backstrom,A., Vaites,L.P., Lee,J.J., Ouyang,W., Liu,S.N., Zhang,T.,
            Silva,E., Park,J., Pitea,A., Kreisberg,J.F., Gygi,S.P., Ma,J.,
            Harper,J.W., Yeo,G.W., Lafontaine,D.L.J., Lundberg,E. and Ideker,T.
  TITLE     A multi-scale map of cell structure fusing protein images and
            interactions
  JOURNAL   Nature 600 (7889), 536-542 (2021)
   PUBMED   34819669
REFERENCE   4  (bases 1 to 1728)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 1728)
  AUTHORS   Chen,Z.S., Lin,X., Chan,T.F. and Chan,H.Y.E.
  TITLE     Pan-cancer investigation reveals mechanistic insights of planar
            cell polarity gene Fuz in carcinogenesis
  JOURNAL   Aging (Albany NY) 13 (5), 7259-7283 (2021)
   PUBMED   33658400
  REMARK    GeneRIF: Pan-cancer investigation reveals mechanistic insights of
            planar cell polarity gene Fuz in carcinogenesis.
REFERENCE   6  (bases 1 to 1728)
  AUTHORS   Seo,J.H., Zilber,Y., Babayeva,S., Liu,J., Kyriakopoulos,P., De
            Marco,P., Merello,E., Capra,V., Gros,P. and Torban,E.
  TITLE     Mutations in the planar cell polarity gene, Fuzzy, are associated
            with neural tube defects in humans
  JOURNAL   Hum Mol Genet 20 (22), 4324-4333 (2011)
   PUBMED   21840926
  REMARK    GeneRIF: Data propose that mutations in Fuzzy may account for a
            subset of neural tube defects in humans.
            Erratum:[Hum Mol Genet. 2015 Jul 1;24(13):3893. doi:
            10.1093/hmg/ddv131.. PMID: 25954026]
REFERENCE   7  (bases 1 to 1728)
  AUTHORS   Heydeck,W. and Liu,A.
  TITLE     PCP effector proteins inturned and fuzzy play nonredundant roles in
            the patterning but not convergent extension of mammalian neural
            tube
  JOURNAL   Dev Dyn 240 (8), 1938-1948 (2011)
   PUBMED   21761479
REFERENCE   8  (bases 1 to 1728)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   9  (bases 1 to 1728)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   10 (bases 1 to 1728)
  AUTHORS   Park,T.J., Haigo,S.L. and Wallingford,J.B.
  TITLE     Ciliogenesis defects in embryos lacking inturned or fuzzy function
            are associated with failure of planar cell polarity and Hedgehog
            signaling
  JOURNAL   Nat Genet 38 (3), 303-311 (2006)
   PUBMED   16493421
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB152506.1, AK315445.1 and
            BU073247.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_025129.4.
            
            Summary: This gene encodes a planar cell polarity protein that is
            involved in ciliogenesis and directional cell movement. Knockout
            studies in mice exhibit neural tube defects and defective cilia,
            and mutations in this gene are associated with neural tube defects
            in humans. Alternatively spliced transcript variants have been
            found for this gene. [provided by RefSeq, Jul 2012].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC016793.2, AK315445.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313777.9/ ENSP00000313309.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 CB152506.1         19-22
            5-1443              AK315445.1         1-1439
            1444-1728           BU073247.1         17-301              c
FEATURES             Location/Qualifiers
     source          1..1728
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..1728
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /note="fuzzy planar cell polarity protein"
                     /db_xref="GeneID:80199"
                     /db_xref="HGNC:HGNC:26219"
                     /db_xref="MIM:610622"
     exon            1..297
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /inference="alignment:Splign:2.1.0"
     CDS             187..1443
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein fuzzy homolog; ciliogenesis and planar polarity
                     effector 3; ciliogenesis and planar polarity effector
                     complex subunit 3"
                     /codon_start=1
                     /product="protein fuzzy homolog isoform 1"
                     /protein_id="NP_079405.2"
                     /db_xref="CCDS:CCDS12781.1"
                     /db_xref="GeneID:80199"
                     /db_xref="HGNC:HGNC:26219"
                     /db_xref="MIM:610622"
                     /translation="MGEEGTGGTVHLLCLAASSGVPLFCRSSRGGAPARQQLPFSVIG
                     SLNGVHMFGQNLEVQLSSARTENTTVVWKSFHDSITLIVLSSEVGISELRLERLLQMV
                     FGAMVLLVGLEELTNIRNVERLKKDLRASYCLIDSFLGDSELIGDLTQCVDCVIPPEG
                     SLLQEALSGFAEAAGTTFVSLVVSGRVVAATEGWWRLGTPEAVLLPWLVGSLPPQTAR
                     DYPVYLPHGSPTVPHRLLTLTLLPSLELCLLCGPSPPLSQLYPQLLERWWQPLLDPLR
                     ACLPLGPRALPSGFPLHTDILGLLLLHLELKRCLFTVEPLGDKEPSPEQRRRLLRNFY
                     TLVTSTHFPPEPGPPEKTEDEVYQAQLPRACYLVLGTEEPGTGVRLVALQLGLRRLLL
                     LLSPQSPTHGLRSLATHTLHALTPLL"
     exon            298..419
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /inference="alignment:Splign:2.1.0"
     exon            420..504
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /inference="alignment:Splign:2.1.0"
     exon            505..573
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /inference="alignment:Splign:2.1.0"
     exon            574..678
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /inference="alignment:Splign:2.1.0"
     exon            679..876
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /inference="alignment:Splign:2.1.0"
     exon            877..972
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1079
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1144
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1145..1219
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1220..1728
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1689..1694
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /note="hexamer: AATACA"
     polyA_site      1728
                     /gene="FUZ"
                     /gene_synonym="CPLANE3; FY; NTD"
                     /note="major polyA site"
ORIGIN      
        1 gcctgaatag ggtttgaggg tctgtttgag ttgggtgaag aaggcgggaa gttaatcctc
       61 ttccaatcag ctccccatct cgccctctgg cggctccgga ccacaggccg agttactctg
      121 attaccgcca tgctccaaga cccgcactga cagtccccac gtgagggacc gcggtgggag
      181 tcctaaatgg gggaggaggg gacgggcggc actgtgcatc tgctgtgcct cgcggcctcc
      241 agcggggtcc ccctattctg caggagcagt cgcggcggcg cccccgcccg tcagcagctc
      301 ccgttctctg tcatcggttc cctcaatgga gtccacatgt ttgggcagaa tctggaggtg
      361 cagctgagct ctgcgaggac cgagaacacg actgtggtgt ggaaaagctt ccatgacagc
      421 atcaccctca ttgttctgtc atctgaggtg ggcatctctg agctgaggct ggagagacta
      481 ctccaaatgg tgtttggagc catggtcctt cttgtgggac ttgaagaact gaccaatatc
      541 cgcaacgtgg agagactgaa gaaggacttg agggccagtt attgcctcat cgacagcttc
      601 ctgggggact cggagctcat cggggacctg acccagtgtg tggactgcgt gattcctcca
      661 gaggggtccc tcttgcagga agccctctcc gggttcgctg aggccgcggg cacgaccttc
      721 gtcagtctgg tggtgtccgg ccgggtggtg gcagcaacag agggttggtg gcggctgggg
      781 acgcccgagg ccgtgctgct cccctggctg gtggggtccc tgccgccgca gaccgctcgc
      841 gactacccgg tgtacctgcc gcacgggagc cccacggtcc cacaccggct cctgaccctg
      901 actctgctgc cgagcctgga gctgtgtcta ctctgcgggc cgagcccacc cctcagccag
      961 ttgtatccac agcttctgga gcgctggtgg cagccactgc tggacccgtt gcgggcctgt
     1021 ctgccgttgg gaccccgggc gctgcccagt ggcttccccc ttcacacaga catcctcggg
     1081 ctgctgctcc tccacctgga actgaagcgc tgcctcttca ccgtggagcc cttgggggat
     1141 aaagagcctt caccagaaca gcgccggcgc ctcctccgaa acttctatac cctggtcacc
     1201 tccacgcact tcccaccaga gccagggcca ccagagaaga cagaagatga ggtctaccag
     1261 gcccagctgc ccagagcttg ctacctggtg ttggggactg aggaaccagg cacaggagtg
     1321 cgtctggtgg ccttgcagct ggggcttcgg cggctgctgc tgctgctgtc tccccagagt
     1381 cccacccatg ggctgcgaag cctggccacc cacactctgc atgccctcac cccacttctt
     1441 tgactaccta gcagtgggtg atggacacag acatggggct gttagcgtct ctctgtttat
     1501 tcgctcacaa taatacacag cccctggatg gggagggggt aggaggggct acaacagggt
     1561 ggggtgggag gggaggagac atccacttcc ctggcccctc tcccctctgt gcttgggggg
     1621 gaaagggagg gagggggact ccccctaacc ccccagaatg taaacagcag cagatgaaca
     1681 aaaataaaaa tacaaaaggc cggaggaaag tcccaggcat cccccaaa
//
