LOCUS       NM_001354045            2337 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens WD repeat containing planar cell polarity effector
            (WDPCP), transcript variant 5, mRNA.
ACCESSION   NM_001354045 XM_011532886
VERSION     NM_001354045.2
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 2337)
  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 2337)
  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 2337)
  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 2337)
  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 2337)
  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 2337)
  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 2337)
  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 2337)
  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 2337)
  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 2337)
  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 AC016734.7, AK310290.1,
            AC079353.5 and BM997588.1.
            
            On May 31, 2019 this sequence version replaced NM_001354045.1.
            
            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 :: AK310290.1 [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
            1-77                AC016734.7         125325-125401       c
            78-328              AK310290.1         1-251
            329-329             AC016734.7         29817-29817         c
            330-749             AK310290.1         253-672
            750-750             AC079353.5         87567-87567         c
            751-1316            AK310290.1         674-1239
            1317-1317           AC079353.5         54430-54430         c
            1318-2249           AK310290.1         1241-2172
            2250-2336           AC079353.5         9753-9839           c
            2337-2337           BM997588.1         18-18               c
FEATURES             Location/Qualifiers
     source          1..2337
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p15"
     gene            1..2337
                     /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..281
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     CDS             207..2156
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /note="isoform 4 is encoded by transcript variant 5; 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 4"
                     /protein_id="NP_001340974.1"
                     /db_xref="GeneID:51057"
                     /db_xref="HGNC:HGNC:28027"
                     /db_xref="MIM:613580"
                     /translation="MRREFCWDAYSKAAGSRASSPLPRQDRDSFCHQMSFCLTELHLW
                     SLKNTLHIADRDIGIYQYYDKKDPPATEHGNLEKKQKLAESRDYPWTLKNRRPEKLRD
                     SLKELEELMQNSRCVLSKWKNKYVCQLLFGSGVLVSLSLSGPQLEKVVIDRSLVGKLI
                     SDTISDALLTDSFIILSFLAQNKLCFIQFTKKMESSDVNKRLEKLSALDYKIFYYEIP
                     GPINKTTERHLAINCVHDRVVCWWPLVNDDAWPWAPISSEKDRANLLLLGYAQGRLEV
                     LSSVRTEWDPLDVRFGTKQPYQVFTVEHSVSVDKEPMADSCIYECIRNKIQCVSVTRI
                     PLKSKAISCCRNVTEDKLILGCEDSSLILYETHRRVTLLAQTELLPSLISCHPSGAIL
                     LVGSNQGELQIFDMALSPINIQLLAEDRLPRETLQFSKLFDASSSLVQMQWIAPQVVS
                     QKGEGSDIYDLLFLRFERGPLGVLLFKLGVFTRGQLGLIDIIFQYIHCDEIYEAINIL
                     SSMNWDTLGHQCFISMSAIVNHLLRQKLTPEREAQLETSLGTFYAPTRPLLDSTILEY
                     RDQISKYARRFFHHLLRWSLALSPRLECSDVIAVHCHLHLLGSSDSSASASRVAGTTG
                     MCHHTQLIFVVFSRDGISPCWPGWS"
     exon            282..366
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            367..414
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            415..459
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            460..530
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            531..590
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            591..705
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            706..839
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            840..1031
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1641
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1642..1830
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1831..1954
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1955..2337
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2311..2316
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /note="hexamer: AATAAA"
     polyA_site      2337
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /note="major polyA site"
ORIGIN      
        1 gataagttgg gacgaccgga cagcttctca ggttgctaag cgacgaggcg ggagcgcacg
       61 cacaccctgg ctgctttgta gcacctgagg aaactgtggc ggcggcggcg gcgtcctgga
      121 gacccaagag accaagcgag cgtgtcgctc cctctcgggt ccgaggacct agcctaggaa
      181 ccttctgccc ggggtagtgt ctggtgatga ggcgagagtt ttgctgggac gcctactcca
      241 aagcggccgg gagtcgcgct tcttccccac tcccgagaca ggatagagat tccttctgcc
      301 atcagatgtc tttctgcttg actgaactgc acctgtggtc tttgaagaat accttacaca
      361 ttgcggatag agacattggg atctaccagt attatgacaa gaaagatcca ccagcgacag
      421 agcatggtaa cttagaaaag aagcagaagc tggcagagtc acgagattat ccttggacgc
      481 tcaaaaacag acgcccagaa aaactccgag actcgctcaa agagttggag gagctgatgc
      541 aaaacagtcg gtgtgtgctg agcaaatgga agaacaaata tgtctgtcag ctcctttttg
      601 gttcaggtgt gctggtgtct ctaagccttt ctgggccgca gctggagaaa gtggtgattg
      661 acagaagcct ggtggggaag ctcatctcag acaccatcag tgatgctctt ctcacagaca
      721 gttttatcat cttatcattt ttggcacaaa acaaactatg ttttattcag tttaccaaga
      781 agatggagtc ttctgatgta aacaaaagac tggaaaaact ctcagccttg gattataaga
      841 ttttctatta tgaaataccc ggcccaataa acaagacaac agagcgacat ctagctatca
      901 actgtgttca tgatagagtt gtttgctggt ggccactggt caacgatgat gcttggcctt
      961 gggcccccat ttcttctgag aaggacagag ccaatctact cctcctgggt tatgctcaag
     1021 gaagactaga ggttctgagt tctgtccgca cagaatggga cccactggat gttcgctttg
     1081 gcaccaaaca gccttatcag gtgttcacag tggagcactc cgtaagtgta gacaaagagc
     1141 ccatggctga cagctgcatc tatgaatgca ttcggaataa aatccagtgt gtgtcagtca
     1201 ccagaatacc actaaagtca aaggccatca gctgctgcag gaatgttact gaagacaaac
     1261 tgattctggg ctgtgaagat tcttcgctaa ttctttatga aactcaccgt agagtgactc
     1321 tcttagcaca gactgaactt ttgccttcat taataagctg ccacccaagt ggtgccattc
     1381 tgctagttgg cagcaaccaa ggggagttgc aaatttttga tatggctcta tcccctatta
     1441 acatccaact gttggctgaa gaccgcttac ccagggagac tctgcaattc agtaaattat
     1501 ttgatgcctc cagcagtctt gttcaaatgc aatggatagc tcctcaggtt gtttctcaga
     1561 agggtgaagg tagtgatatc tatgatctcc tcttcctcag gtttgaaaga ggacctttgg
     1621 gtgtgctgtt gtttaaacta ggcgtcttca ctcgaggaca gctgggcctg atagacatca
     1681 tcttccagta cattcactgt gatgagatct atgaggcaat aaacatcctg agcagcatga
     1741 actgggacac tctgggccac cagtgcttta tcagcatgag cgccattgta aaccatcttc
     1801 ttagacagaa gctcactcca gagagagaag cacagcttga gacaagcctt ggaaccttct
     1861 atgctccaac aagaccactt ctggattcca ctatattgga atatagagat caaatcagca
     1921 aatatgcaag gagattcttc catcacttgc tcagatggag tcttgccttg tcgcccaggc
     1981 tggagtgcag tgatgtgatc gcggttcatt gccacctcca tctcctgggt tcaagcgatt
     2041 cttctgcctc agcctcccga gtagctggga ccactggcat gtgccaccac acccagctaa
     2101 tttttgttgt ttttagtaga gatgggattt caccatgttg gccaggctgg tcttgaactc
     2161 cttaccttgt gatccacccg cctcagcctc ccaaagtgct gggattacag gcataagcca
     2221 ccgtgcccgg ccataaagta caatttttaa aaatcatgga attcacttct cagggggtat
     2281 tttggttgtg gccagtttgg ggctattaca aataaaactt ccatgaacat tcatgta
//
