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
//