LOCUS       NM_001005337            5326 bp    mRNA    linear   PRI 01-FEB-2025
DEFINITION  Homo sapiens plakophilin 1 (PKP1), transcript variant 1a, mRNA.
ACCESSION   NM_001005337
VERSION     NM_001005337.3
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 5326)
  AUTHORS   Araujo-Abad,S., Rizzuti,B., Vidal,M., Abian,O., Farez-Vidal,M.E.,
            Velazquez-Campoy,A., de Juan Romero,C. and Neira,J.L.
  TITLE     Unveiling the Binding between the Armadillo-Repeat Domain of
            Plakophilin 1 and the Intrinsically Disordered Transcriptional
            Repressor RYBP
  JOURNAL   Biomolecules 14 (5), 561 (2024)
   PUBMED   38785968
  REMARK    GeneRIF: Unveiling the Binding between the Armadillo-Repeat Domain
            of Plakophilin 1 and the Intrinsically Disordered Transcriptional
            Repressor RYBP.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5326)
  AUTHORS   Kim,M., Reidenbach,S., Schlechter,T., Rothmann,A.C., Will,R. and
            Hofmann,I.
  TITLE     Plakophilin 1 deficiency in prostatic tumours is correlated with
            immune cell recruitment and controls the up-regulation of cytokine
            expression post-transcriptionally
  JOURNAL   FEBS J 290 (7), 1907-1919 (2023)
   PUBMED   36380691
  REMARK    GeneRIF: Plakophilin 1 deficiency in prostatic tumours is
            correlated with immune cell recruitment and controls the
            up-regulation of cytokine expression post-transcriptionally.
REFERENCE   3  (bases 1 to 5326)
  AUTHORS   Neira,J.L., Rizzuti,B., Araujo-Abad,S., Abian,O., Farez-Vidal,M.E.,
            Velazquez-Campoy,A. and de Juan Romero,C.
  TITLE     The armadillo-repeat domain of Plakophilin 1 binds to human enzyme
            PADI4
  JOURNAL   Biochim Biophys Acta Proteins Proteom 1871 (2), 140868 (2023)
   PUBMED   36372391
  REMARK    GeneRIF: The armadillo-repeat domain of Plakophilin 1 binds to
            human enzyme PADI4.
REFERENCE   4  (bases 1 to 5326)
  AUTHORS   Pandey,P., Khan,F., Chauhan,P., Upadhyay,T.K., Bardakci,F.,
            Alam,M.J., Almuzaini,N., Abdalla,R.A.H., Singh,S.K. and Saeed,M.
  TITLE     Elucidation of the inhibitory potential of flavonoids against PKP1
            protein in non-small cell lung cancer
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 68 (11), 90-96 (2022)
   PUBMED   37114302
  REMARK    GeneRIF: Elucidation of the inhibitory potential of flavonoids
            against PKP1 protein in non-small cell lung cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5326)
  AUTHORS   Boyero,L., Martin-Padron,J., Farez-Vidal,M.E., Rodriguez,M.I.,
            Andrades,A., Peinado,P., Arenas,A.M., Ritore-Salazar,F.,
            Alvarez-Perez,J.C., Cuadros,M. and Medina,P.P.
  TITLE     PKP1 and MYC create a feedforward loop linking transcription and
            translation in squamous cell lung cancer
  JOURNAL   Cell Oncol (Dordr) 45 (2), 323-332 (2022)
   PUBMED   35182388
  REMARK    GeneRIF: PKP1 and MYC create a feedforward loop linking
            transcription and translation in squamous cell lung cancer.
REFERENCE   6  (bases 1 to 5326)
  AUTHORS   Schmidt,A., Langbein,L., Rode,M., Pratzel,S., Zimbelmann,R. and
            Franke,W.W.
  TITLE     Plakophilins 1a and 1b: widespread nuclear proteins recruited in
            specific epithelial cells as desmosomal plaque components
  JOURNAL   Cell Tissue Res 290 (3), 481-499 (1997)
   PUBMED   9369526
REFERENCE   7  (bases 1 to 5326)
  AUTHORS   McGrath,J.A., McMillan,J.R., Shemanko,C.S., Runswick,S.K.,
            Leigh,I.M., Lane,E.B., Garrod,D.R. and Eady,R.A.
  TITLE     Mutations in the plakophilin 1 gene result in ectodermal
            dysplasia/skin fragility syndrome
  JOURNAL   Nat Genet 17 (2), 240-244 (1997)
   PUBMED   9326952
REFERENCE   8  (bases 1 to 5326)
  AUTHORS   Cowley,C.M., Simrak,D., Spurr,N.K., Arnemann,J. and Buxton,R.S.
  TITLE     The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human
            chromosomes 1q and 17, respectively
  JOURNAL   Hum Genet 100 (3-4), 486-488 (1997)
   PUBMED   9272178
REFERENCE   9  (bases 1 to 5326)
  AUTHORS   Heid,H.W., Schmidt,A., Zimbelmann,R., Schafer,S.,
            Winter-Simanowski,S., Stumpp,S., Keith,M., Figge,U., Schnolzer,M.
            and Franke,W.W.
  TITLE     Cell type-specific desmosomal plaque proteins of the plakoglobin
            family: plakophilin 1 (band 6 protein)
  JOURNAL   Differentiation 58 (2), 113-131 (1994)
   PUBMED   7890138
REFERENCE   10 (bases 1 to 5326)
  AUTHORS   Hatzfeld,M., Kristjansson,G.I., Plessmann,U. and Weber,K.
  TITLE     Band 6 protein, a major constituent of desmosomes from stratified
            epithelia, is a novel member of the armadillo multigene family
  JOURNAL   J Cell Sci 107 (Pt 8), 2259-2270 (1994)
   PUBMED   7527055
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC119427.3 and KF459531.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001005337.2.
            
            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 be involved in molecular
            recruitment and stabilization during desmosome formation. Mutations
            in this gene have been associated with the ectodermal
            dysplasia/skin fragility syndrome. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2010].
            
            Transcript Variant: This variant (1a) represents the shorter
            transcript variant as compared to variant 1b.  It encodes the
            shorter protein (isoform 1a), compared to isoform 1b.
            
            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.
            
            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 :: SRR14038194.1283979.1,
                                           SRR18074969.2120016.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367324.8/ ENSP00000356293.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-399               AC119427.3         36524-36922
            400-503             AC119427.3         46960-47063
            504-898             AC119427.3         66184-66578
            899-1043            KF459531.1         88-232
            1044-1251           AC119427.3         70590-70797
            1252-1429           AC119427.3         71636-71813
            1430-1544           AC119427.3         73285-73399
            1545-1700           AC119427.3         74996-75151
            1701-1877           AC119427.3         76031-76207
            1878-2031           AC119427.3         77446-77599
            2032-2218           AC119427.3         77959-78145
            2219-2303           AC119427.3         78772-78856
            2304-2410           AC119427.3         81780-81886
            2411-5326           AC119427.3         83092-86007
FEATURES             Location/Qualifiers
     source          1..5326
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..5326
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /note="plakophilin 1"
                     /db_xref="GeneID:5317"
                     /db_xref="HGNC:HGNC:9023"
                     /db_xref="MIM:601975"
     exon            1..399
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /inference="alignment:Splign:2.1.0"
     CDS             198..2378
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /note="isoform 1a is encoded by transcript variant 1a;
                     band 6 protein"
                     /codon_start=1
                     /product="plakophilin-1 isoform 1a"
                     /protein_id="NP_001005337.1"
                     /db_xref="CCDS:CCDS30967.1"
                     /db_xref="GeneID:5317"
                     /db_xref="HGNC:HGNC:9023"
                     /db_xref="MIM:601975"
                     /translation="MNHSPLKTALAYECFQDQDNSTLALPSDQKMKTGTSGRQRVQEQ
                     VMMTVKRQKSKSSQSSTLSHSNRGSMYDGLADNYNYGTTSRSSYYSKFQAGNGSWGYP
                     IYNGTLKREPDNRRFSSYSQMENWSRHYPRGSCNTTGAGSDICFMQKIKASRSEPDLY
                     CDPRGTLRKGTLGSKGQKTTQNRYSFYSTCSGQKAIKKCPVRPPSCASKQDPVYIPPI
                     SCNKDLSFGHSRASSKICSEDIECSGLTIPKAVQYLSSQDEKYQAIGAYYIQHTCFQD
                     ESAKQQVYQLGGICKLVDLLRSPNQNVQQAAAGALRNLVFRSTTNKLETRRQNGIREA
                     VSLLRRTGNAEIQKQLTGLLWNLSSTDELKEELIADALPVLADRVIIPFSGWCDGNSN
                     MSREVVDPEVFFNATGCLRNLSSADAGRQTMRNYSGLIDSLMAYVQNCVAASRCDDKS
                     VENCMCVLHNLSYRLDAEVPTRYRQLEYNARNAYTEKSSTGCFSNKSDKMMNNNYDCP
                     LPEEETNPKGSGWLYHSDAIRTYLNLMGKSKKDATLEACAGALQNLTASKGLMSSGMS
                     QLIGLKEKGLPQIARLLQSGNSDVVRSGASLLSNMSRHPLLHRVMGNQVFPEVTRLLT
                     SHTGNTSNSEDILSSACYTVRNLMASQPQLAKQYFSSSMLNNIINLCRSSASPKAAEA
                     ARLLLSDMWSSKELQGVLRQQGFDRNMLGTLAGANSLRNFTSRF"
     exon            400..503
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /inference="alignment:Splign:2.1.0"
     exon            504..898
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /inference="alignment:Splign:2.1.0"
     exon            899..1043
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1044..1251
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1252..1429
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1430..1544
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1545..1700
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1701..1877
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1878..2031
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /inference="alignment:Splign:2.1.0"
     exon            2032..2218
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /inference="alignment:Splign:2.1.0"
     exon            2219..2303
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /inference="alignment:Splign:2.1.0"
     exon            2304..2410
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /inference="alignment:Splign:2.1.0"
     exon            2411..5326
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5302..5307
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /note="hexamer: AATAAA"
     polyA_site      5326
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /note="major polyA site"
ORIGIN      
        1 agtgccagag agggacgaac cagggtggaa gcgccaggag cagctgcagg gagccctcac
       61 gcggaccacg cactctatgg ccgtagggag ccgctgagag cgagaagagc acgctcctgc
      121 ccgcccgctg caccgcacct cgcctcgcct ctctgctctc ctaggccccg gccgcgcgcc
      181 acccgcctcc cgccaccatg aaccactcgc cgctcaagac cgccttggcg tacgaatgct
      241 tccaggacca ggacaactcc acgttggctt tgccgtcgga ccaaaagatg aaaacaggca
      301 cgtctggcag gcagcgcgtg caggagcagg tgatgatgac cgtcaagcgg cagaagtcca
      361 agtcttccca gtcgtccacc ctgagccact ccaatcgagg ttccatgtat gatggcttgg
      421 ctgacaatta caactatggg accaccagca ggagcagcta ctactccaag ttccaggcag
      481 ggaatggctc atggggatat ccgatctaca atggaaccct caagcgggag cctgacaaca
      541 ggcgcttcag ctcctacagc cagatggaga actggagccg gcactacccc cggggcagct
      601 gtaacaccac cggcgcaggc agcgacatct gcttcatgca gaaaatcaag gcgagccgca
      661 gtgagcccga cctctactgt gacccacggg gcaccctgcg caagggcacg ctgggcagca
      721 agggccagaa gaccacccag aaccgctaca gcttttacag cacctgcagt ggtcagaagg
      781 ccataaagaa gtgccctgtg cgcccgccct cttgtgcctc caagcaggac cctgtgtata
      841 tcccgcccat ctcctgcaac aaggacctgt cctttggcca ctctagggcc agctccaaga
      901 tctgcagtga ggacatcgag tgcagtgggc tgaccatccc caaggctgtg cagtacctga
      961 gctcccagga tgagaagtac caggccattg gggcctatta catccagcat acctgcttcc
     1021 aggatgaatc tgccaagcaa caggtctatc agctgggagg catctgcaag ctggtggacc
     1081 tcctccgcag ccccaaccag aacgtccagc aggccgcggc aggggccctg cgcaacctgg
     1141 tgttcaggag caccaccaac aagctggaga cccggaggca gaatgggatc cgcgaggcag
     1201 tcagcctcct gaggagaacc gggaacgccg agatccagaa gcagctgact gggctgctct
     1261 ggaacctgtc ttccactgac gagctgaagg aggaactcat tgccgacgcc ctgcctgttc
     1321 tggccgaccg cgtcatcatt cccttctctg gctggtgcga tggcaatagc aacatgtccc
     1381 gggaagtggt ggaccctgag gtcttcttca atgccacagg ctgcttgagg aacctgagct
     1441 cggccgatgc aggccgccag accatgcgta actactcagg gctcattgat tccctcatgg
     1501 cctatgtcca gaactgtgta gcggccagcc gctgtgacga caagtctgtg gaaaactgca
     1561 tgtgtgttct gcacaacctc tcctaccgcc tggacgccga ggtgcccacc cgctaccgcc
     1621 agctggagta taacgcccgc aacgcctaca ccgagaagtc ctccactggc tgcttcagca
     1681 acaagagcga caagatgatg aacaacaact atgactgccc cctgcctgag gaagagacca
     1741 accccaaggg cagcggctgg ttgtaccatt cagatgccat ccgcacctac ctgaacctca
     1801 tgggcaagag caagaaagat gctaccctgg aggcctgtgc tggtgccctg cagaacctga
     1861 cagccagcaa ggggctgatg tccagtggca tgagccagtt gattgggctg aaggaaaagg
     1921 gcctgccaca aattgcccgc ctcctgcaat ctggcaactc tgatgtggtg cggtccggag
     1981 cctccctcct gagcaacatg tcccgccacc ctctgctgca cagagtgatg gggaaccagg
     2041 tgttcccgga ggtgaccagg ctcctcacca gccacactgg caataccagc aactccgaag
     2101 acatcttgtc ctcggcctgc tacactgtga ggaacctgat ggcctcgcag ccacaactgg
     2161 ccaagcagta cttctccagc agcatgctca acaacatcat caacctgtgc cgaagcagtg
     2221 cctcacccaa ggccgcagaa gctgcccggc ttctcctgtc tgacatgtgg tccagcaagg
     2281 aactgcaggg tgtcctcaga cagcaaggtt tcgataggaa catgctggga accttagctg
     2341 gggccaacag cctcaggaac ttcacctccc gattctaaga agagactgtc caagcaagtt
     2401 aggcttgcag gaagatatga cccagctgag aagccctcag gcctcgctgg atggggtttt
     2461 ctgtccatcc tatgcagtat ttgggaaagt tcacaagaaa ctgagaagaa acctaaaaac
     2521 tgtggatagt ggaaagattt ttagattttt tttttccttg gggaaactgg caggcaatgg
     2581 gggttaggga ggttggggcg gtgggggctt tcttgagtta aaggggctta tatgtgatgt
     2641 caatatttct tcctctgaga aatggtatat atatgtgtat aatgtaagtg tgtgcatgca
     2701 tgtgcgcgtg catgtgtgtg tgtgtgagtg tcttaaagca taaccacaaa ctgcaaaaag
     2761 ctaggtaagc tattttgttg cagctcataa ggtggtgaaa aggactctcc tgtgtttctt
     2821 actcataggc aaggacaaca tgtgcttttt ggtgagctgc tcataattcc tgaaatgtgt
     2881 ggtgccaggg caagggggcc atcactgcag tcaggccctc agaggagtcc tgcaggcttc
     2941 ctaccagtgg tctccagggg tgcaggagta actggggctg ggccagcctc cccacttaca
     3001 aggctgcttt ccaggaaggg aggtctggtg tatctcatgg gagaatctgg ggtgtctgta
     3061 atgtcacccc tccagcagcg ccacaaggac tgaggttggg taggtgtggg gttccagagg
     3121 acagcaggac actctcgcat actttgccaa atgaggcctg ctcagaggag taggagctga
     3181 aagatggtgc cttccaccct cttgggctgt gtgcccatca gagcaggctc agcctgcaaa
     3241 ggccctgcat tcagaggtct tgtaatctac ttgttgcagg agaaagaagg taaaaaatga
     3301 tttttttaag aaaagctatt ttattgcagc tctttcccaa gagctgttct gggaatggct
     3361 ggtcttcata ttcccagtgg agaggggaac aagtggggct gggcatatac ctattccggc
     3421 ttctagtggg atggagttgg ggtatagaaa ttaaccagga agatgtttcc accaagcctg
     3481 ctgtgagtca attgagggag tgtttggggt cccaggagac ttggacgggg ggagtttggg
     3541 tagactagga aaggaaagtg ccatatcagg gtaccggtac cggcaagctc acatctcagc
     3601 caggggccat gccccacttc ccctgacccc agctgtcttg tctccactct gtgaaaccca
     3661 caggggatgt gataaacagg gctattaggg gtatcagcca cgtcgagccc ccagactctg
     3721 tgcacttcag accagcagca gcaggagggc tcccgagggc cttatgagaa aacctgtgtg
     3781 gacatccctt ggtgtacact aagacagagc agagcccagc gctcccaagc cttcctcctt
     3841 ccagcttcta cctccatgct agcattgctg gtgttagaga ggaattaact tcctggtctg
     3901 tgcccttctc tagaagaata taagatgctc ctcctcctca ccccttctca gcctcctccc
     3961 aagtcttcct cttctgcacc acccccgagt ccaaacccac ctcttgcccc agcattcagg
     4021 ctggaaaaca ctgatgtgga ctcagtatga taactgagat gggggacgcc agacatgtga
     4081 ggacgctgtc ctccgagagg tgtccccggc tgttagccag ctgtgctgtg gtgctgtggg
     4141 tctgtcatac cctcccttgc ttctgttcac actgggaggc ccactcctgg ctcacctctc
     4201 cctctcaggg acccacgtgg gagcctggat ccctggactg tcctgggcat aggtttcagg
     4261 ggcctccttt gttgtcatca gaacccagag gaattcttct cctaaaaaat acgtatggca
     4321 taccaatctg tgcggggcag tgtcctaagc acttagacta catcagggaa gaacacagac
     4381 cacatccctg tcctcatgcg gcttatgttt tctggaggaa agtggagaca caagtccttg
     4441 gctttagggc tcccccggct gggggctgtg cagtccggtc agggcgggag gggaaatgca
     4501 ccgctgcatg tgaaccttac cagcccaggc ggatgcccct tccccttagc actaccctgg
     4561 cctcctgcat cccctcgcct catgttcctc ccaccttcaa agaatgaaga gccccatggg
     4621 cccagcccct gccctgggaa ccaggcagcc ttccagacct caggggctga ggcagactat
     4681 tagggcaggg ctgactttgg tgacactgcc cattccctct caggccagct caggtcaccc
     4741 gggcctctga cccaggcctg tcactttgag aggggcaaaa ctgagagggg cttttcctag
     4801 agaaagagaa caaggagctt gccaggcttc atgtagccga cacacgtctc aggattttaa
     4861 gtccacattg gcctcacact accagggcca atgcccaaaa taaggagttc caatttgggg
     4921 ccaaatgagg aaggacacag actctgccct gggatctcct gtgctagcgg ccaatgacaa
     4981 atccagtcat tggccaccag ccacctctgc agtggggacc acactagcag ccctgactcc
     5041 acactcctcc tggggaccca agaggcagtg ttgctgtctg catgtccacc ttggaatctg
     5101 gctgaactgg ctggcaggac caagactgcg gctggggtgg gcagggaagg gaagccgggg
     5161 gctgctgtga gggatcttgg agcttccctg tagcccacct tccccttgct tcatgtttgt
     5221 agaggaacct tgtgccggcc aggcccagtt tccttgtgtg atacactaat gtatttgctt
     5281 tttttggaaa tagagaaaat caataaattg ctagtgtttc tttgaa
//
