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Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), transcript variant 3, non-coding RNA

NCBI Reference Sequence: NR_122106.2

FASTA Graphics 

LOCUS       NR_122106               4347 bp    RNA     linear   PRI 04-DEC-2023
DEFINITION  Homo sapiens WD repeat containing planar cell polarity effector
            (WDPCP), transcript variant 3, non-coding RNA.
ACCESSION   NR_122106 XR_244936
VERSION     NR_122106.2
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 4347)
  AUTHORS   O'Farrell F, Aleyakpo B, Mustafa R, Jiang X, Pinto RC, Elliott P,
            Tzoulaki I, Dehghan A, Loh SHY, Barclay JW, Martins LM 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 4347)
  AUTHORS   Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E,
            Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, 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 SR, Cormier-Daire V, Eguether T, Pazour GJ,
            Herranz-Perez V, Goldstein JS, Pasquier L, Loget P, Saunier S,
            Megarbane A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE,
            Nachury MV, Attie-Bitach T, Riviere JB, 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 4347)
  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 4347)
  AUTHORS   Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler
            JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver
            A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung
            Y, Choi YJ, Duffourd Y, Faivre L, Riviere JB, Chen J, Liu KJ,
            Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK
            and Wallingford JB.
  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. PMID: 27463398]
REFERENCE   5  (bases 1 to 4347)
  AUTHORS   Aliferis K, Helle S, Gyapay G, Duchatelet S, Stoetzel C, Mandel JL
            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 4347)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA
            and Butte NF.
  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 4347)
  AUTHORS   Chen J, Smaoui N, Hammer MB, Jiao X, Riazuddin SA, Harper S,
            Katsanis N, Riazuddin S, Chaabouni H, Berson EL and Hejtmancik JF.
  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 4347)
  AUTHORS   Kim SK, Shindo A, Park TJ, Oh EC, Ghosh S, Gray RS, Lewis RA,
            Johnson CA, Attie-Bittach T, Katsanis N and Wallingford JB.
  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 4347)
  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 4347)
  AUTHORS   Forsyth,R. and Gunay-Aygun,M.
  TITLE     Bardet-Biedl Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
            Gripp KW 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, BC143426.1,
            AL833623.1, AC009501.4 and BM991121.1.
            
            On Aug 4, 2017 this sequence version replaced NR_122106.1.
            
            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 :: BC143426.1 [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
            1-55                AF131737.1         1-55
            56-1959             BC143426.1         1-1904
            1960-2507           AL833623.1         2565-3112
            2508-4330           AC009501.4         115905-117727       c
            4331-4347           BM991121.1         1-17                c
FEATURES             Location/Qualifiers
     source          1..4347
                     /organism="Homo sapiens"
                     /mol_type="transcribed RNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p15"
     gene            1..4347
                     /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"
     misc_RNA        1..4347
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /product="WD repeat containing planar cell polarity
                     effector, transcript variant 3"
                     /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"
     misc_feature    125..1594
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="COORDINATES:
                     alignment:Blast2seq::RefSeq|NM_001042692.3"
                     /note="primary ORF has stop codon >50 nucleotides from the
                     terminal splice site; nonsense-mediated mRNA decay (NMD)
                     candidate"
                     /db_xref="GeneID:51057"
     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..1558
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1559..1721
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1722..1801
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1802..1833
                     /gene="WDPCP"
                     /gene_synonym="BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ;
                     FRTZ"
                     /inference="alignment:Splign:2.1.0"
     exon            1834..4331
                     /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 cctctgggaa
     1561 ctcctgggac ccttggacag aggggatatg ctaaatgaag catttattgg cctgtcttta
     1621 gcacctcaag gagaagactc atttccagat aacctccctc cctcttgccc aacccacaga
     1681 catattttac aacaaagaat actgaatggc tcttctaaca gacaaataat tgacagaagg
     1741 aatgaacttg aaaaagacat ctgttctgga tttttgatga ctaatacctg taatgcagaa
     1801 gacggagaac tgagagaaga cggcagagaa caggaaatca gagatggtgg ttctctcaaa
     1861 atgattcact ttggtctggt gtaaacatta agaaaaaaag aaaactgcct tcttcatatc
     1921 taaacttttc atggcctgat acagacttaa aatcccccgt gtggattttt aacaagagac
     1981 agtatgaatc atataaatta gttaagagtt ttgagttgag tgtttgtttt caaaataaag
     2041 ttttattatt tcaaaaacat gcagcataac agcaaagtga tcgtaagtaa aagtcttcaa
     2101 cctacttatt ttcaataatg taaaattttg aaagtgtctt aaattgtatg ttaattaggt
     2161 gctacaaaaa tagaatattt aaactttgtt ctcccaggta ctttaaaaaa ggggcagtag
     2221 ggggcaggca tagtgctcat gcctgtagtc ccagtgcttt aggaggccaa ggctgaagga
     2281 tcacttgagc ccaggagttc aagactagcc tgtgcaacat agtgaaacgc tgtctctaga
     2341 aaaaatttta aaaattagcc aggcatggtg gtacatgctt gtgaagctga ggcagaagaa
     2401 ttgcttgagc ccaggagttc aaggctacag tgagctgtga tcgcgccact gcactctaac
     2461 ctgggcaaca gagagtgacc ctgtctccaa aaaaaaaaaa aaaaaaaaag aaagaaaaga
     2521 aagaaagaaa gtcctcttct gctcttgttt acattattaa tttacattac aaatacagta
     2581 tttattatgc aaatttttca gcccagatcc attgttagaa gacaattctc catggttctc
     2641 tcgaattact gctatgagta atttgccctg actgcccctt agaacacaga tactgtttcc
     2701 ctctggagaa aggggcaggc atgcttatca acttttatat gagatttgag ttctttaaac
     2761 tcagaatgcc tctcctttac actgcccatt gagtgtgcag gtgtcatcta gccctcttaa
     2821 cattgctcta taggaatagg gctcagagaa tccatgaaga aaagaaaaaa atgccgatac
     2881 cctggttact atcatttgtc tctgactcag gagtctcatg tcttctaaca gcatccatga
     2941 aactatagtg tggtaacttg ttagctagta agtagggtaa aatctcatac ccttcacagt
     3001 tattgacacc cattctttag cagataactg atatttcaca attatagaca tctataggcc
     3061 aggcacggtg gctcacgcct gtaatcccag cactttggga ggccaaggcg ggcgaatcac
     3121 gaggtcagga gatggagacc atcctagaca acatggtgaa accccgtctc tactaaaaat
     3181 acaaaaaaaa aaaaaattag ccgggcgtgg tggcgtgcac ctgtagtccc aactacttgg
     3241 gaggctgaag caggagaatg gcgtgaaccc ggagggcgga ggctgcagtg agctgaggtc
     3301 gcaccattac gctccagcct gggtgacaaa gtaagactcc gttgcaaaaa aaaaaaaaaa
     3361 aaaaattata gacatctata ataataatca acattgttta atattagaca ataattacat
     3421 tatataatta aatcttagag ttcaaagtta atcagactga aggcttttat acttcaaatt
     3481 tttctttcta cttcccattt atctgtacct ctaccagagg gtatgacaaa aaaaggtgaa
     3541 actcaaatta gatttttcat tttgttattg ctctgaaaaa attttaataa tgcataacat
     3601 gtaagccaaa ctgagttacc agcaaatttt cattctccta ttcccaacct tctttatcac
     3661 acagataatc aaaagttaac taatttttag agaaaaaatt gtatttaaaa aaatagggtt
     3721 ttgtcaagat tgcagaattt tctccagatt ttccgggtaa atagtcatta acccaaaata
     3781 cctttcctgt gagatactaa agataaaata tggatattga tacatctatg tttttctaca
     3841 taatgataat aataatgaaa atgtttgcca gttatgtagg tgaaaattaa acaaatcata
     3901 gttcttaaag tacccatttt ccccacttca catacctcta gaaaagttaa atgtacagaa
     3961 aaccaagttt agatagtaag aatatattat gaatgatctt tgataatgtc catgatttat
     4021 aaatgctgtt atttcccaga tgttgtaaat ctgagaatat taattaaatt gatattcctc
     4081 ctctgctaga acctgaaagg attatgaagg ggctaccata gctctaaagt aagaagagtg
     4141 gtataggcag gaacagctag gtagtatctg tcctagcact gacaggttca caggttgtcc
     4201 tttaggaata gacccatgag ctttttcaac tattttccag atttctcaga tctgaggtaa
     4261 tttccacagt aatttatatt agctgtcaca ttgtgtctta ttgctagaat aaactttgct
     4321 tggaatgcta aaaaaaaaaa aaaaaaa
//
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