LOCUS       NM_001042692            4351 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens WD repeat containing planar cell polarity effector
            (WDPCP), transcript variant 1, mRNA.
ACCESSION   NM_001042692 XM_005264350
VERSION     NM_001042692.3
KEYWORDS    RefSeq.
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 4351)
  AUTHORS   O'Farrell,F., Aleyakpo,B., Mustafa,R., Jiang,X., Pinto,R.C.,
            Elliott,P., Tzoulaki,I., Dehghan,A., Loh,S.H.Y., Barclay,J.W.,
            Martins,L.M. and Pazoki,R.
  TITLE     Evidence for involvement of the alcohol consumption WDPCP gene in
            lipid metabolism, and liver cirrhosis
  JOURNAL   Sci Rep 13 (1), 20616 (2023)
   PUBMED   37996473
  REMARK    GeneRIF: Evidence for involvement of the alcohol consumption WDPCP
            gene in lipid metabolism, and liver cirrhosis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4351)
  AUTHORS   Bruel,A.L., Franco,B., Duffourd,Y., Thevenon,J., Jego,L., Lopez,E.,
            Deleuze,J.F., Doummar,D., Giles,R.H., Johnson,C.A., Huynen,M.A.,
            Chevrier,V., Burglen,L., Morleo,M., Desguerres,I., Pierquin,G.,
            Doray,B., Gilbert-Dussardier,B., Reversade,B.,
            Steichen-Gersdorf,E., Baumann,C., Panigrahi,I.,
            Fargeot-Espaliat,A., Dieux,A., David,A., Goldenberg,A., Bongers,E.,
            Gaillard,D., Argente,J., Aral,B., Gigot,N., St-Onge,J.,
            Birnbaum,D., Phadke,S.R., Cormier-Daire,V., Eguether,T.,
            Pazour,G.J., Herranz-Perez,V., Goldstein,J.S., Pasquier,L.,
            Loget,P., Saunier,S., Megarbane,A., Rosnet,O., Leroux,M.R.,
            Wallingford,J.B., Blacque,O.E., Nachury,M.V., Attie-Bitach,T.,
            Riviere,J.B., Faivre,L. and Thauvin-Robinet,C.
  TITLE     Fifteen years of research on oral-facial-digital syndromes: from 1
            to 16 causal genes
  JOURNAL   J Med Genet 54 (6), 371-380 (2017)
   PUBMED   28289185
  REMARK    Review article
REFERENCE   3  (bases 1 to 4351)
  AUTHORS   Ma,Y., Sun,Y., Jiang,L., Zuo,K., Chen,H., Guo,J., Chen,F., Lai,Y.
            and Shi,J.
  TITLE     WDPCP regulates the ciliogenesis of human sinonasal epithelial
            cells in chronic rhinosinusitis
  JOURNAL   Cytoskeleton (Hoboken) 74 (2), 82-90 (2017)
   PUBMED   28001338
  REMARK    GeneRIF: Inflammatory cytokines cause reduced WDPCP expression,
            which contributes to impaired ciliogenesis in human rhinosinusitis.
REFERENCE   4  (bases 1 to 4351)
  AUTHORS   Toriyama,M., Lee,C., Taylor,S.P., Duran,I., Cohn,D.H., Bruel,A.L.,
            Tabler,J.M., Drew,K., Kelly,M.R., Kim,S., Park,T.J., Braun,D.A.,
            Pierquin,G., Biver,A., Wagner,K., Malfroot,A., Panigrahi,I.,
            Franco,B., Al-Lami,H.A., Yeung,Y., Choi,Y.J., Duffourd,Y.,
            Faivre,L., Riviere,J.B., Chen,J., Liu,K.J., Marcotte,E.M.,
            Hildebrandt,F., Thauvin-Robinet,C., Krakow,D., Jackson,P.K. and
            Wallingford,J.B.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     The ciliopathy-associated CPLANE proteins direct basal body
            recruitment of intraflagellar transport machinery
  JOURNAL   Nat Genet 48 (6), 648-656 (2016)
   PUBMED   27158779
  REMARK    Erratum:[Nat Genet. 2016 Jul 27;48(8):970. doi:
            10.1038/ng0816-970b.. PMID: 27463398]
REFERENCE   5  (bases 1 to 4351)
  AUTHORS   Aliferis,K., Helle,S., Gyapay,G., Duchatelet,S., Stoetzel,C.,
            Mandel,J.L. and Dollfus,H.
  TITLE     Differentiating Alstrom from Bardet-Biedl syndrome (BBS) using
            systematic ciliopathy genes sequencing
  JOURNAL   Ophthalmic Genet 33 (1), 18-22 (2012)
   PUBMED   22004009
REFERENCE   6  (bases 1 to 4351)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   7  (bases 1 to 4351)
  AUTHORS   Chen,J., Smaoui,N., Hammer,M.B., Jiao,X., Riazuddin,S.A.,
            Harper,S., Katsanis,N., Riazuddin,S., Chaabouni,H., Berson,E.L. and
            Hejtmancik,J.F.
  TITLE     Molecular analysis of Bardet-Biedl syndrome families: report of 21
            novel mutations in 10 genes
  JOURNAL   Invest Ophthalmol Vis Sci 52 (8), 5317-5324 (2011)
   PUBMED   21642631
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 4351)
  AUTHORS   Kim,S.K., Shindo,A., Park,T.J., Oh,E.C., Ghosh,S., Gray,R.S.,
            Lewis,R.A., Johnson,C.A., Attie-Bittach,T., Katsanis,N. and
            Wallingford,J.B.
  TITLE     Planar cell polarity acts through septins to control collective
            cell movement and ciliogenesis
  JOURNAL   Science 329 (5997), 1337-1340 (2010)
   PUBMED   20671153
  REMARK    GeneRIF: study linked mutations in Fritz to Bardet-Biedl and
            Meckel-Gruber syndromes, a notable link given that other genes
            mutated in these syndromes also influence collective cell movement
            and ciliogenesis
REFERENCE   9  (bases 1 to 4351)
  AUTHORS   Collier,S., Lee,H., Burgess,R. and Adler,P.
  TITLE     The WD40 repeat protein fritz links cytoskeletal planar polarity to
            frizzled subcellular localization in the Drosophila epidermis
  JOURNAL   Genetics 169 (4), 2035-2045 (2005)
   PUBMED   15654087
REFERENCE   10 (bases 1 to 4351)
  AUTHORS   Forsyth,R. and Gunay-Aygun,M.
  TITLE     Bardet-Biedl Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301537
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF131737.1, AL833623.1,
            AC009501.4 and BM991121.1.
            
            On Aug 4, 2017 this sequence version replaced NM_001042692.2.
            
            Summary: This gene encodes a cytoplasmic WD40 repeat protein. A
            similar gene in frogs encodes a planar cell polarity protein that
            plays a critical role in collective cell movement and ciliogenesis
            by mediating septin localization. Mutations in this gene are
            associated with Bardet-Biedl syndrome 15 and may also play a role
            in Meckel-Gruber syndrome. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jun 2014].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF131737.1, BC093752.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2063              AF131737.1         1-2063
            2064-2511           AL833623.1         2665-3112
            2512-4334           AC009501.4         115905-117727       c
            4335-4351           BM991121.1         1-17                c
FEATURES             Location/Qualifiers
     source          1..4351
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p15"
     gene            1..4351
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /note="WD repeat containing planar cell polarity effector"
                     /db_xref="GeneID:51057"
                     /db_xref="HGNC:HGNC:28027"
                     /db_xref="MIM:613580"
     exon            1..146
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     CDS             125..1888
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /note="isoform 1 is encoded by transcript variant 1; WD
                     repeat-containing protein C2orf86; WD repeat-containing
                     and planar cell polarity effector protein fritz homolog;
                     Bardet-Biedl syndrome 15 protein; ciliogenesis and planar
                     polarity effector 5; ciliogenesis and planar polarity
                     effector complex subunit 5"
                     /codon_start=1
                     /product="WD repeat-containing and planar cell polarity
                     effector protein fritz homolog isoform 1"
                     /protein_id="NP_001036157.1"
                     /db_xref="CCDS:CCDS46301.1"
                     /db_xref="GeneID:51057"
                     /db_xref="HGNC:HGNC:28027"
                     /db_xref="MIM:613580"
                     /translation="MFSSLHSALLTDSFIILSFLAQNKLCFIQFTKKMESSDVNKRLE
                     KLSALDYKIFYYEIPGPINKTTERHLAINCVHDRVVCWWPLVNDDAWPWAPISSEKDR
                     ANLLLLGYAQGRLEVLSSVRTEWDPLDVRFGTKQPYQVFTVEHSVSVDKEPMADSCIY
                     ECIRNKIQCVSVTRIPLKSKAISCCRNVTEDKLILGCEDSSLILYETHRRVTLLAQTE
                     LLPSLISCHPSGAILLVGSNQGELQIFDMALSPINIQLLAEDRLPRETLQFSKLFDAS
                     SSLVQMQWIAPQVVSQKGEGSDIYDLLFLRFERGPLGVLLFKLGVFTRGQLGLIDIIF
                     QYIHCDEIYEAINILSSMNWDTLGHQCFISMSAIVNHLLRQKLTPEREAQLETSLGTF
                     YAPTRPLLDSTILEYRDQISKYARRFFHHLLRYQRFEKAFLLAVDVGARDLFMDIHYL
                     ALDKGELALAEVARKRASDIDAESITSGVELLGPLDRGDMLNEAFIGLSLAPQGEDSF
                     PDNLPPSCPTHRHILQQRILNGSSNRQIIDRRNELEKDICSGFLMTNTCNAEDGELRE
                     DGREQEIRDGGSLKMIHFGLV"
     exon            147..280
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            281..472
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            473..1082
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1271
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1395
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1396..1459
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1460..1562
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1563..1725
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1726..1805
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1806..1837
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1838..4335
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aaatttttta aataaataga ctggtagaga acactgatca gtatccccta ataaatccac
       61 tttatcctcg gatggtttct atcatgtaaa cataggatta aactcttagc acaaataaaa
      121 tggaatgttt tcgtctctac attcagctct tctcacagac agttttatca tcttatcatt
      181 tttggcacaa aacaaactat gttttattca gtttaccaag aagatggagt cttctgatgt
      241 aaacaaaaga ctggaaaaac tctcagcctt ggattataag attttctatt atgaaatacc
      301 cggcccaata aacaagacaa cagagcgaca tctagctatc aactgtgttc atgatagagt
      361 tgtttgctgg tggccactgg tcaacgatga tgcttggcct tgggccccca tttcttctga
      421 gaaggacaga gccaatctac tcctcctggg ttatgctcaa ggaagactag aggttctgag
      481 ttctgtccgc acagaatggg acccactgga tgttcgcttt ggcaccaaac agccttatca
      541 ggtgttcaca gtggagcact ccgtaagtgt agacaaagag cccatggctg acagctgcat
      601 ctatgaatgc attcggaata aaatccagtg tgtgtcagtc accagaatac cactaaagtc
      661 aaaggccatc agctgctgca ggaatgttac tgaagacaaa ctgattctgg gctgtgaaga
      721 ttcttcgcta attctttatg aaactcaccg tagagtgact ctcttagcac agactgaact
      781 tttgccttca ttaataagct gccacccaag tggtgccatt ctgctagttg gcagcaacca
      841 aggggagttg caaatttttg atatggctct atcccctatt aacatccaac tgttggctga
      901 agaccgctta cccagggaga ctctgcaatt cagtaaatta tttgatgcct ccagcagtct
      961 tgttcaaatg caatggatag ctcctcaggt tgtttctcag aagggtgaag gtagtgatat
     1021 ctatgatctc ctcttcctca ggtttgaaag aggacctttg ggtgtgctgt tgtttaaact
     1081 aggcgtcttc actcgaggac agctgggcct gatagacatc atcttccagt acattcactg
     1141 tgatgagatc tatgaggcaa taaacatcct gagcagcatg aactgggaca ctctgggcca
     1201 ccagtgcttt atcagcatga gcgccattgt aaaccatctt cttagacaga agctcactcc
     1261 agagagagaa gcacagcttg agacaagcct tggaaccttc tatgctccaa caagaccact
     1321 tctggattcc actatattgg aatatagaga tcaaatcagc aaatatgcaa ggagattctt
     1381 ccatcacttg ctcaggtacc agaggtttga aaaggcattt ctcctagctg ttgacgttgg
     1441 tgctcgtgac ctctttatgg atattcatta ccttgcacta gataaaggtg aattggcact
     1501 agctgaagtg gcaagaaaaa gagctagtga cattgatgca gaatcaataa cctctggggt
     1561 tgaactcctg ggacccttgg acagagggga tatgctaaat gaagcattta ttggcctgtc
     1621 tttagcacct caaggagaag actcatttcc agataacctc cctccctctt gcccaaccca
     1681 cagacatatt ttacaacaaa gaatactgaa tggctcttct aacagacaaa taattgacag
     1741 aaggaatgaa cttgaaaaag acatctgttc tggatttttg atgactaata cctgtaatgc
     1801 agaagacgga gaactgagag aagacggcag agaacaggaa atcagagatg gtggttctct
     1861 caaaatgatt cactttggtc tggtgtaaac attaagaaaa aaagaaaact gccttcttca
     1921 tatctaaact tttcatggcc tgatacagac ttaaaatccc ccgtgtggat ttttaacaag
     1981 agacagtatg aatcatataa attagttaag agttttgagt tgagtgtttg ttttcaaaat
     2041 aaagttttat tatttcaaaa acatgcagca taacagcaaa gtgatcgtaa gtaaaagtct
     2101 tcaacctact tattttcaat aatgtaaaat tttgaaagtg tcttaaattg tatgttaatt
     2161 aggtgctaca aaaatagaat atttaaactt tgttctccca ggtactttaa aaaaggggca
     2221 gtagggggca ggcatagtgc tcatgcctgt agtcccagtg ctttaggagg ccaaggctga
     2281 aggatcactt gagcccagga gttcaagact agcctgtgca acatagtgaa acgctgtctc
     2341 tagaaaaaat tttaaaaatt agccaggcat ggtggtacat gcttgtgaag ctgaggcaga
     2401 agaattgctt gagcccagga gttcaaggct acagtgagct gtgatcgcgc cactgcactc
     2461 taacctgggc aacagagagt gaccctgtct ccaaaaaaaa aaaaaaaaaa aaagaaagaa
     2521 aagaaagaaa gaaagtcctc ttctgctctt gtttacatta ttaatttaca ttacaaatac
     2581 agtatttatt atgcaaattt ttcagcccag atccattgtt agaagacaat tctccatggt
     2641 tctctcgaat tactgctatg agtaatttgc cctgactgcc ccttagaaca cagatactgt
     2701 ttccctctgg agaaaggggc aggcatgctt atcaactttt atatgagatt tgagttcttt
     2761 aaactcagaa tgcctctcct ttacactgcc cattgagtgt gcaggtgtca tctagccctc
     2821 ttaacattgc tctataggaa tagggctcag agaatccatg aagaaaagaa aaaaatgccg
     2881 ataccctggt tactatcatt tgtctctgac tcaggagtct catgtcttct aacagcatcc
     2941 atgaaactat agtgtggtaa cttgttagct agtaagtagg gtaaaatctc atacccttca
     3001 cagttattga cacccattct ttagcagata actgatattt cacaattata gacatctata
     3061 ggccaggcac ggtggctcac gcctgtaatc ccagcacttt gggaggccaa ggcgggcgaa
     3121 tcacgaggtc aggagatgga gaccatccta gacaacatgg tgaaaccccg tctctactaa
     3181 aaatacaaaa aaaaaaaaaa ttagccgggc gtggtggcgt gcacctgtag tcccaactac
     3241 ttgggaggct gaagcaggag aatggcgtga acccggaggg cggaggctgc agtgagctga
     3301 ggtcgcacca ttacgctcca gcctgggtga caaagtaaga ctccgttgca aaaaaaaaaa
     3361 aaaaaaaaat tatagacatc tataataata atcaacattg tttaatatta gacaataatt
     3421 acattatata attaaatctt agagttcaaa gttaatcaga ctgaaggctt ttatacttca
     3481 aatttttctt tctacttccc atttatctgt acctctacca gagggtatga caaaaaaagg
     3541 tgaaactcaa attagatttt tcattttgtt attgctctga aaaaatttta ataatgcata
     3601 acatgtaagc caaactgagt taccagcaaa ttttcattct cctattccca accttcttta
     3661 tcacacagat aatcaaaagt taactaattt ttagagaaaa aattgtattt aaaaaaatag
     3721 ggttttgtca agattgcaga attttctcca gattttccgg gtaaatagtc attaacccaa
     3781 aatacctttc ctgtgagata ctaaagataa aatatggata ttgatacatc tatgtttttc
     3841 tacataatga taataataat gaaaatgttt gccagttatg taggtgaaaa ttaaacaaat
     3901 catagttctt aaagtaccca ttttccccac ttcacatacc tctagaaaag ttaaatgtac
     3961 agaaaaccaa gtttagatag taagaatata ttatgaatga tctttgataa tgtccatgat
     4021 ttataaatgc tgttatttcc cagatgttgt aaatctgaga atattaatta aattgatatt
     4081 cctcctctgc tagaacctga aaggattatg aaggggctac catagctcta aagtaagaag
     4141 agtggtatag gcaggaacag ctaggtagta tctgtcctag cactgacagg ttcacaggtt
     4201 gtcctttagg aatagaccca tgagcttttt caactatttt ccagatttct cagatctgag
     4261 gtaatttcca cagtaattta tattagctgt cacattgtgt cttattgcta gaataaactt
     4321 tgcttggaat gctaaaaaaa aaaaaaaaaa a
//
