LOCUS       NM_007183               2817 bp    mRNA    linear   PRI 11-DEC-2024
DEFINITION  Homo sapiens plakophilin 3 (PKP3), transcript variant 1, mRNA.
ACCESSION   NM_007183 XM_938487 XM_943685 XM_943689 XM_943697
VERSION     NM_007183.4
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 2817)
  AUTHORS   Zhang,Y., Chen,J., Tian,J., Zhou,Y. and Liu,Y.
  TITLE     Role and function of plakophilin 3 in cancer progression and skin
            disease
  JOURNAL   Cancer Sci 115 (1), 17-23 (2024)
   PUBMED   38048779
  REMARK    GeneRIF: Role and function of plakophilin 3 in cancer progression
            and skin disease.
            Review article
REFERENCE   2  (bases 1 to 2817)
  AUTHORS   Schamschula,E., Lahnsteiner,A., Assenov,Y., Hagmann,W.,
            Zaborsky,N., Wiederstein,M., Strobl,A., Stanke,F., Muley,T.,
            Plass,C., Tummler,B. and Risch,A.
  TITLE     Disease-related blood-based differential methylation in cystic
            fibrosis and its representation in lung cancer revealed a
            regulatory locus in PKP3 in lung epithelial cells
  JOURNAL   Epigenetics 17 (8), 837-860 (2022)
   PUBMED   34415821
  REMARK    GeneRIF: Disease-related blood-based differential methylation in
            cystic fibrosis and its representation in lung cancer revealed a
            regulatory locus in PKP3 in lung epithelial cells.
REFERENCE   3  (bases 1 to 2817)
  AUTHORS   Indra,I., Troyanovsky,R.B., Green,K.J. and Troyanovsky,S.M.
  TITLE     Plakophilin 3 and Par3 facilitate desmosomes' association with the
            apical junctional complex
  JOURNAL   Mol Biol Cell 32 (19), 1824-1837 (2021)
   PUBMED   34260281
  REMARK    GeneRIF: Plakophilin 3 and Par3 facilitate desmosomes' association
            with the apical junctional complex.
REFERENCE   4  (bases 1 to 2817)
  AUTHORS   Hong,J.Y., Zapata,J., Blackburn,A., Baumert,R., Bae,S.M., Ji,H.,
            Nam,H.J., Miller,R.K. and McCrea,P.D.
  TITLE     A catenin of the plakophilin-subfamily, Pkp3, responds to
            canonical-Wnt pathway components and signals
  JOURNAL   Biochem Biophys Res Commun 563, 31-39 (2021)
   PUBMED   34058472
  REMARK    GeneRIF: A catenin of the plakophilin-subfamily, Pkp3, responds to
            canonical-Wnt pathway components and signals.
REFERENCE   5  (bases 1 to 2817)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 2817)
  AUTHORS   Papagerakis,S., Shabana,A.H., Depondt,J., Gehanno,P. and Forest,N.
  TITLE     Immunohistochemical localization of plakophilins (PKP1, PKP2, PKP3,
            and p0071) in primary oropharyngeal tumors: correlation with
            clinical parameters
  JOURNAL   Hum Pathol 34 (6), 565-572 (2003)
   PUBMED   12827610
REFERENCE   7  (bases 1 to 2817)
  AUTHORS   Bonne,S., Gilbert,B., Hatzfeld,M., Chen,X., Green,K.J. and van
            Roy,F.
  TITLE     Defining desmosomal plakophilin-3 interactions
  JOURNAL   J Cell Biol 161 (2), 403-416 (2003)
   PUBMED   12707304
  REMARK    GeneRIF: PKP3, whose desmosomal expression and protein interactions
            are broader than those of PKP1 and -2, is a unique multiprotein
            binding element in many epithelial desmosomes.
REFERENCE   8  (bases 1 to 2817)
  AUTHORS   Hofmann,I., Mertens,C., Brettel,M., Nimmrich,V., Schnolzer,M. and
            Herrmann,H.
  TITLE     Interaction of plakophilins with desmoplakin and intermediate
            filament proteins: an in vitro analysis
  JOURNAL   J Cell Sci 113 (Pt 13), 2471-2483 (2000)
   PUBMED   10852826
REFERENCE   9  (bases 1 to 2817)
  AUTHORS   Bonne,S., van Hengel,J., Nollet,F., Kools,P. and van Roy,F.
  TITLE     Plakophilin-3, a novel armadillo-like protein present in nuclei and
            desmosomes of epithelial cells
  JOURNAL   J Cell Sci 112 (Pt 14), 2265-2276 (1999)
   PUBMED   10381383
REFERENCE   10 (bases 1 to 2817)
  AUTHORS   Schmidt,A., Langbein,L., Pratzel,S., Rode,M., Rackwitz,H.R. and
            Franke,W.W.
  TITLE     Plakophilin 3--a novel cell-type-specific desmosomal plaque protein
  JOURNAL   Differentiation 64 (5), 291-306 (1999)
   PUBMED   10374265
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB139782.1, AK025067.1,
            CA947983.1, FN421477.1 and BC000081.2.
            
            On Nov 23, 2018 this sequence version replaced NM_007183.3.
            
            Summary: This gene encodes a member of the arm-repeat (armadillo)
            and plakophilin gene families. Plakophilin proteins contain
            numerous armadillo repeats, localize to cell desmosomes and nuclei,
            and participate in linking cadherins to intermediate filaments in
            the cytoskeleton. This protein may act in cellular
            desmosome-dependent adhesion and signaling pathways. Two transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2014].
            
            Transcript Variant: This variant (1) uses an alternate 5' exon
            structure and differs in the 5' UTR and coding region, compared to
            variant 2. The resulting isoform (PKP3a) has a shorter and distinct
            N-terminus compared to isoform PKP3b.
            
            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 :: BC000081.2, Z98265.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331563.7/ ENSP00000331678.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DB139782.1         27-40
            15-1499             AK025067.1         2-1486
            1500-1714           CA947983.1         1-215               c
            1715-2530           FN421477.1         1705-2520
            2531-2817           BC000081.2         2523-2809
FEATURES             Location/Qualifiers
     source          1..2817
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..2817
                     /gene="PKP3"
                     /note="plakophilin 3"
                     /db_xref="GeneID:11187"
                     /db_xref="HGNC:HGNC:9025"
                     /db_xref="MIM:605561"
     exon            1..316
                     /gene="PKP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             85..2478
                     /gene="PKP3"
                     /note="isoform PKP3a is encoded by transcript variant 1;
                     plakophilin 3b"
                     /codon_start=1
                     /product="plakophilin-3 isoform PKP3a"
                     /protein_id="NP_009114.1"
                     /db_xref="CCDS:CCDS7695.1"
                     /db_xref="GeneID:11187"
                     /db_xref="HGNC:HGNC:9025"
                     /db_xref="MIM:605561"
                     /translation="MQDGNFLLSALQPEAGVCSLALPSDLQLDRRGAEGPEAERLRAA
                     RVQEQVRARLLQLGQQPRHNGAAEPEPEAETARGTSRGQYHTLQAGFSSRSQGLSGDK
                     TSGFRPIAKPAYSPASWSSRSAVDLSCSRRLSSAHNGGSAFGAAGYGGAQPTPPMPTR
                     PVSFHERGGVGSRADYDTLSLRSLRLGPGGLDDRYSLVSEQLEPAATSTYRAFAYERQ
                     ASSSSSRAGGLDWPEATEVSPSRTIRAPAVRTLQRFQSSHRSRGVGGAVPGAVLEPVA
                     RAPSVRSLSLSLADSGHLPDVHGFNSYGSHRTLQRLSSGFDDIDLPSAVKYLMASDPN
                     LQVLGAAYIQHKCYSDAAAKKQARSLQAVPRLVKLFNHANQEVQRHATGAMRNLIYDN
                     ADNKLALVEENGIFELLRTLREQDDELRKNVTGILWNLSSSDHLKDRLARDTLEQLTD
                     LVLSPLSGAGGPPLIQQNASEAEIFYNATGFLRNLSSASQATRQKMRECHGLVDALVT
                     SINHALDAGKCEDKSVENAVCVLRNLSYRLYDEMPPSALQRLEGRGRRDLAGAPPGEV
                     VGCFTPQSRRLRELPLAADALTFAEVSKDPKGLEWLWSPQIVGLYNRLLQRCELNRHT
                     TEAAAGALQNITAGDRRWAGVLSRLALEQERILNPLLDRVRTADHHQLRSLTGLIRNL
                     SRNARNKDEMSTKVVSHLIEKLPGSVGEKSPPAEVLVNIIAVLNNLVVASPIAARDLL
                     YFDGLRKLIFIKKKRDSPDSEKSSRAASSLLANLWQYNKLHRDFRAKGYRKEDFLGP"
     exon            317..396
                     /gene="PKP3"
                     /inference="alignment:Splign:2.1.0"
     exon            397..1028
                     /gene="PKP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1029..1152
                     /gene="PKP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1357
                     /gene="PKP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1358..1532
                     /gene="PKP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1533..1650
                     /gene="PKP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1651..1821
                     /gene="PKP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1822..2007
                     /gene="PKP3"
                     /inference="alignment:Splign:2.1.0"
     exon            2008..2161
                     /gene="PKP3"
                     /inference="alignment:Splign:2.1.0"
     exon            2162..2354
                     /gene="PKP3"
                     /inference="alignment:Splign:2.1.0"
     exon            2355..2442
                     /gene="PKP3"
                     /inference="alignment:Splign:2.1.0"
     exon            2443..2817
                     /gene="PKP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2794..2799
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PKP3"
                     /note="hexamer: AATAAA"
     polyA_site      2817
                     /gene="PKP3"
                     /note="major polyA site"
ORIGIN      
        1 agggagaggg cctcgaggga caggacgtga agatagttgg gtttggaggc ggccgccagg
       61 cccaggcccg gtggacctgc cgccatgcag gacggtaact tcctgctgtc ggccctgcag
      121 cctgaggccg gcgtgtgctc cctggcgctg ccctctgacc tgcagctgga ccgccggggc
      181 gccgaggggc cggaggccga gcggctgcgg gcagcccgcg tccaggagca ggtccgcgcc
      241 cgcctcttgc agctgggaca gcagccgcgg cacaacgggg ccgctgagcc cgagcctgag
      301 gccgagactg ccagaggcac atccaggggg cagtaccaca ccctgcaggc tggcttcagc
      361 tctcgctctc agggcctgag tggggacaag acctcgggct tccggcccat cgccaagccg
      421 gcctacagcc cagcctcctg gtcctcccgc tccgccgtgg atctgagctg cagtcggagg
      481 ctgagttcag cccacaacgg gggcagcgcc tttggggccg ctgggtacgg gggtgcccag
      541 cccacccctc ccatgcccac caggcccgtg tccttccatg agcgcggtgg ggttgggagc
      601 cgggccgact atgacacact ctccctgcgc tcgctgcggc tggggcccgg gggcctggac
      661 gaccgctaca gcctggtgtc tgagcagctg gagcccgcgg ccacctccac ctacagggcc
      721 tttgcgtacg agcgccaggc cagctccagc tccagccggg caggggggct ggactggccc
      781 gaggccactg aggtttcccc gagccggacc atccgtgccc ctgccgtgcg gaccctgcag
      841 cgattccaga gcagccaccg gagccgcggg gtaggcgggg cagtgccggg ggccgtcctg
      901 gagccagtgg ctcgagcgcc atctgtgcgc agcctcagcc tcagcctggc tgactcgggc
      961 cacctgccgg acgtgcatgg gttcaacagc tacggtagcc accgaaccct gcagagactc
     1021 agcagcggtt ttgatgacat tgacctgccc tcagcagtca agtacctcat ggcttcagac
     1081 cccaacctgc aggtgctggg agcggcctac atccagcaca agtgctacag cgatgcagcc
     1141 gccaagaagc aggcccgcag ccttcaggcc gtgcctaggc tggtgaagct cttcaaccac
     1201 gccaaccagg aagtgcagcg ccatgccaca ggtgccatgc gcaacctcat ctacgacaac
     1261 gctgacaaca agctggccct ggtggaggag aacgggatct tcgagctgct gcggacactg
     1321 cgggagcagg atgatgagct tcgcaaaaat gtcacaggga tcctgtggaa cctttcatcc
     1381 agcgaccacc tgaaggaccg cctggccaga gacacgctgg agcagctcac agacctggtg
     1441 ttgagccccc tgtcgggggc tgggggtccc cccctcatcc agcagaacgc ctcggaggca
     1501 gagatcttct acaacgccac cggcttcctc aggaacctca gctcagcctc tcaggccact
     1561 cgccagaaga tgcgggagtg ccacgggctg gtggacgccc tggtcacctc tatcaaccac
     1621 gccctggacg cgggcaaatg cgaggacaag agcgtggaga acgcggtgtg cgtcctgcgg
     1681 aacctgtcct accgcctcta cgacgagatg ccgccgtccg cgctgcagcg gctggagggt
     1741 cgcggccgca gggacctggc gggggcgccg ccgggagagg tcgtgggctg cttcacgccg
     1801 cagagccggc ggctgcgcga gctgcccctc gccgccgatg cgctcacctt cgcggaggtg
     1861 tccaaggacc ccaagggcct cgagtggctg tggagccccc agatcgtggg gctgtacaac
     1921 cggctgctgc agcgctgcga gctcaaccgg cacacgacgg aggcggccgc cggggcgctg
     1981 cagaacatca cggcaggcga ccgcaggtgg gcgggggtgc tgagccgcct ggccctggag
     2041 caggagcgta ttctgaaccc cctgctagac cgtgtcagga ccgccgacca ccaccagctg
     2101 cgctcactga ctggcctcat ccgaaacctg tctcggaacg ctaggaacaa ggacgagatg
     2161 tccacgaagg tggtgagcca cctgatcgag aagctgccgg gcagcgtggg tgagaagtcg
     2221 cccccagccg aggtgctggt caacatcata gctgtgctca acaacctggt ggtggccagc
     2281 cccatcgctg cccgagacct gctgtatttt gacggactcc gaaagctcat cttcatcaag
     2341 aagaagcggg acagccccga cagtgagaag tcctcccggg cagcatccag cctcctggcc
     2401 aacctgtggc agtacaacaa gctccaccgt gacttccggg cgaagggcta tcggaaggag
     2461 gacttcctgg gcccataggt gaagccttct ggaggagaag gtgacgtggc ccagcgtcca
     2521 agggacagac tcagctccag gctgcttggc agcccagcct ggaggagaag gctaatgacg
     2581 gaggggcccc tcgctggggc ccctgtgtgc atctttgagg gtcctgggcc accaggaggg
     2641 gcagggtctt atagctgggg acttggcttc cgcagggcag ggggtggggc agggctcaag
     2701 gctgctctgg tgtatggggt ggtgacccag tcacattggc agaggtgggg gttggctgtg
     2761 gcctggcagt atcttgggat agccagcact gggaataaag atggccatga acagtca
//
