LOCUS       NM_002230               3505 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens junction plakoglobin (JUP), transcript variant 1,
            mRNA.
ACCESSION   NM_002230
VERSION     NM_002230.4
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 3505)
  AUTHORS   Khoroshkin,M., Buyan,A., Dodel,M., Navickas,A., Yu,J., Trejo,F.,
            Doty,A., Baratam,R., Zhou,S., Lee,S.B., Joshi,T., Garcia,K.,
            Choi,B., Miglani,S., Subramanyam,V., Modi,H., Carpenter,C.,
            Markett,D., Corces,M.R., Mardakheh,F.K., Kulakovskiy,I.V. and
            Goodarzi,H.
  TITLE     Systematic identification of post-transcriptional regulatory
            modules
  JOURNAL   Nat Commun 15 (1), 7872 (2024)
   PUBMED   39251607
  REMARK    Erratum:[Nat Commun. 2024 Oct 28;15(1):9277. doi:
            10.1038/s41467-024-52903-4.. PMID: 39468017]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3505)
  AUTHORS   Abou Azar,F., Mugabo,Y., Yuen,S., Del Veliz,S., Pare,F., Rial,S.A.,
            Lavoie,G., Roux,P.P. and Lim,G.E.
  TITLE     Plakoglobin regulates adipocyte differentiation independently of
            the Wnt/beta-catenin signaling pathway
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1871 (4), 119690 (2024)
   PUBMED   38367915
  REMARK    GeneRIF: Plakoglobin regulates adipocyte differentiation
            independently of the Wnt/beta-catenin signaling pathway.
REFERENCE   3  (bases 1 to 3505)
  AUTHORS   Hu,J., Huang,R., Liang,C., Wang,Y., Wang,M., Chen,Y., Wu,C.,
            Zhang,J., Liu,Z., Zhao,Q., Liu,Z., Wang,F. and Yuan,S.
  TITLE     TRIM50 Inhibits Gastric Cancer Progression by Regulating the
            Ubiquitination and Nuclear Translocation of JUP
  JOURNAL   Mol Cancer Res 21 (10), 1107-1119 (2023)
   PUBMED   37409971
  REMARK    GeneRIF: TRIM50 Inhibits Gastric Cancer Progression by Regulating
            the Ubiquitination and Nuclear Translocation of JUP.
REFERENCE   4  (bases 1 to 3505)
  AUTHORS   Li,Y., Xu,W., Ren,Y., Cheung,H.C., Huang,P., Kaur,G., Kuo,C.J.,
            McDonough,S.P., Fubini,S.L., Lipkin,S.M., Deng,X., Chang,Y.F. and
            Huang,L.
  TITLE     Plakoglobin and High-Mobility Group Box 1 Mediate Intestinal
            Epithelial Cell Apoptosis Induced by Clostridioides difficile TcdB
  JOURNAL   mBio 13 (5), e0184922 (2022)
   PUBMED   36043787
  REMARK    GeneRIF: Plakoglobin and High-Mobility Group Box 1 Mediate
            Intestinal Epithelial Cell Apoptosis Induced by Clostridioides
            difficile TcdB.
REFERENCE   5  (bases 1 to 3505)
  AUTHORS   Wang,Z., Hu,J., Chen,J., Zhang,J., Li,W., Tian,Y., Liu,H. and
            Yang,X.
  TITLE     ICAT promotes colorectal cancer metastasis via binding to JUP and
            activating the NF-kappaB signaling pathway
  JOURNAL   J Clin Lab Anal 36 (10), e24678 (2022)
   PUBMED   36036768
  REMARK    GeneRIF: ICAT promotes colorectal cancer metastasis via binding to
            JUP and activating the NF-kappaB signaling pathway.
REFERENCE   6  (bases 1 to 3505)
  AUTHORS   Aberle,H., Bierkamp,C., Torchard,D., Serova,O., Wagner,T., Natt,E.,
            Wirsching,J., Heidkamper,C., Montagna,M., Lynch,H.T. et al.
  TITLE     The human plakoglobin gene localizes on chromosome 17q21 and is
            subjected to loss of heterozygosity in breast and ovarian cancers
  JOURNAL   Proc Natl Acad Sci U S A 92 (14), 6384-6388 (1995)
   PUBMED   7604000
REFERENCE   7  (bases 1 to 3505)
  AUTHORS   McNally,E., MacLeod,H. and Dellefave-Castillo,L.
  TITLE     Arrhythmogenic Right Ventricular Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301310
REFERENCE   8  (bases 1 to 3505)
  AUTHORS   Knudsen,K.A. and Wheelock,M.J.
  TITLE     Plakoglobin, or an 83-kD homologue distinct from beta-catenin,
            interacts with E-cadherin and N-cadherin
  JOURNAL   J Cell Biol 118 (3), 671-679 (1992)
   PUBMED   1639850
REFERENCE   9  (bases 1 to 3505)
  AUTHORS   Arnemann,J., Spurr,N.K., Wheeler,G.N., Parker,A.E. and Buxton,R.S.
  TITLE     Chromosomal assignment of the human genes coding for the major
            proteins of the desmosome junction, desmoglein DGI (DSG),
            desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and
            plakoglobin DPIII (JUP)
  JOURNAL   Genomics 10 (3), 640-645 (1991)
   PUBMED   1889810
REFERENCE   10 (bases 1 to 3505)
  AUTHORS   Franke,W.W., Goldschmidt,M.D., Zimbelmann,R., Mueller,H.M.,
            Schiller,D.L. and Cowin,P.
  TITLE     Molecular cloning and amino acid sequence of human plakoglobin, the
            common junctional plaque protein
  JOURNAL   Proc Natl Acad Sci U S A 86 (11), 4027-4031 (1989)
   PUBMED   2726765
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC109319.17.
            
            On Nov 22, 2018 this sequence version replaced NM_002230.3.
            
            Summary: This gene encodes a major cytoplasmic protein which is the
            only known constituent common to submembranous plaques of both
            desmosomes and intermediate junctions. This protein forms distinct
            complexes with cadherins and desmosomal cadherins and is a member
            of the catenin family since it contains a distinct repeating amino
            acid motif called the armadillo repeat. Mutation in this gene has
            been associated with Naxos disease. Alternative splicing occurs in
            this gene; however, not all transcripts have been fully described.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) lacks an alternate segment in
            the 5' UTR, compared to transcript variant 3. Variants 1-7 encode
            the same protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: AK226051.1, Z68228.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393931.8/ ENSP00000377508.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-124               AC109319.17        81552-81675         c
            125-340             AC109319.17        66611-66826         c
            341-600             AC109319.17        64382-64641         c
            601-839             AC109319.17        63933-64171         c
            840-1041            AC109319.17        62343-62544         c
            1042-1186           AC109319.17        59887-60031         c
            1187-1290           AC109319.17        59677-59780         c
            1291-1629           AC109319.17        57947-58285         c
            1630-1785           AC109319.17        53679-53834         c
            1786-1905           AC109319.17        53363-53482         c
            1906-2056           AC109319.17        52598-52748         c
            2057-2178           AC109319.17        52379-52500         c
            2179-2218           AC109319.17        51139-51178         c
            2219-3505           AC109319.17        49573-50859         c
FEATURES             Location/Qualifiers
     source          1..3505
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..3505
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /note="junction plakoglobin"
                     /db_xref="GeneID:3728"
                     /db_xref="HGNC:HGNC:6207"
                     /db_xref="MIM:173325"
     exon            1..124
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /inference="alignment:Splign:2.1.0"
     exon            125..340
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /inference="alignment:Splign:2.1.0"
     CDS             133..2370
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /note="catenin (cadherin-associated protein), gamma 80kDa;
                     desmoplakin-3; desmoplakin III; desmosomal protein 3"
                     /codon_start=1
                     /product="junction plakoglobin"
                     /protein_id="NP_002221.1"
                     /db_xref="CCDS:CCDS11407.1"
                     /db_xref="GeneID:3728"
                     /db_xref="HGNC:HGNC:6207"
                     /db_xref="MIM:173325"
                     /translation="MEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSSKGIME
                     EDEACGRQYTLKKTTTYTQGVPPSQGDLEYQMSTTARAKRVREAMCPGVSGEDSSLLL
                     ATQVEGQATNLQRLAEPSQLLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVT
                     KAAMIVNQLSKKEASRRALMGSPQLVAAVVRTMQNTSDLDTARCTTSILHNLSHHREG
                     LLAIFKSGGIPALVRMLSSPVESVLFYAITTLHNLLLYQEGAKMAVRLADGLQKMVPL
                     LNKNNPKFLAITTDCLQLLAYGNQESKLIILANGGPQALVQIMRNYSYEKLLWTTSRV
                     LKVLSVCPSNKPAIVEAGGMQALGKHLTSNSPRLVQNCLWTLRNLSDVATKQEGLESV
                     LKILVNQLSVDDVNVLTCATGTLSNLTCNNSKNKTLVTQNSGVEALIHAILRAGDKDD
                     ITEPAVCALRHLTSRHPEAEMAQNSVRLNYGIPAIVKLLNQPNQWPLVKATIGLIRNL
                     ALCPANHAPLQEAAVIPRLVQLLVKAHQDAQRHVAAGTQQPYTDGVRMEEIVEGCTGA
                     LHILARDPMNRMEIFRLNTIPLFVQLLYSSVENIQRVAAGVLCELAQDKEAADAIDAE
                     GASAPLMELLHSRNEGTATYAAAVLFRISEDKNPDYRKRVSVELTNSLFKHDPAAWEA
                     AQSMIPINEPYGDDMDATYRPMYSSDVPLDPLEMHMDMDGDYPIDTYSDGLRPPYPTA
                     DHMLA"
     exon            341..600
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /inference="alignment:Splign:2.1.0"
     exon            601..839
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /inference="alignment:Splign:2.1.0"
     exon            840..1041
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /inference="alignment:Splign:2.1.0"
     exon            1042..1186
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /inference="alignment:Splign:2.1.0"
     exon            1187..1290
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /inference="alignment:Splign:2.1.0"
     exon            1291..1629
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /inference="alignment:Splign:2.1.0"
     exon            1630..1785
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /inference="alignment:Splign:2.1.0"
     exon            1786..1905
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /inference="alignment:Splign:2.1.0"
     exon            1906..2056
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /inference="alignment:Splign:2.1.0"
     exon            2057..2178
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /inference="alignment:Splign:2.1.0"
     exon            2179..2218
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /inference="alignment:Splign:2.1.0"
     exon            2219..3505
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3487..3492
                     /regulatory_class="polyA_signal_sequence"
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /note="hexamer: AATAAA"
     polyA_site      3505
                     /gene="JUP"
                     /gene_synonym="CTNNG; DP3; DPIII; PDGB; PG; PKGB"
                     /note="major polyA site"
ORIGIN      
        1 gagttgctgc cttggccaga gtccggagca gccgccgccc gaccacgccg agctcagttc
       61 gctgtccgcg ccggctccca ccccggcccg accccgaccc ggcccggtca ggccccatac
      121 tcagtagcca cgatggaggt gatgaacctg atggagcagc ctatcaaggt gactgagtgg
      181 cagcagacat acacctacga ctcgggtatc cactcgggcg ccaacacctg cgtgccctcc
      241 gtcagcagca agggcatcat ggaggaggat gaggcctgcg ggcgccagta cacgctcaag
      301 aaaaccacca cttacaccca gggggtgccc cccagccaag gtgatctgga gtaccagatg
      361 tccacaacag ccagggccaa acgggtgcgg gaggccatgt gccctggtgt gtcaggcgag
      421 gacagctcgc ttctgctggc cacccaggtg gaggggcagg ccaccaacct gcagcgactg
      481 gccgagccgt cccagctgct caagtcggcc attgtgcatc tcatcaacta ccaggacgat
      541 gccgagctgg ccactcgcgc cctgcccgag ctcaccaaac tgctcaacga cgaggacccg
      601 gtggtggtga ccaaggcggc catgattgtg aaccagctgt cgaagaagga ggcgtcgcgg
      661 cgggccctga tgggctcgcc ccagctggtg gccgctgtcg tgcgtaccat gcagaatacc
      721 agcgacctgg acacagcccg ctgcaccacc agcatcctgc acaacctctc ccaccaccgg
      781 gaggggctgc tcgccatctt caagtcgggt ggcatccctg ctctggtccg catgctcagc
      841 tcccctgtgg agtcggtcct gttctatgcc atcaccacgc tgcacaacct gctcctgtac
      901 caggagggcg ccaagatggc cgtgcgcctg gccgacgggc tgcaaaagat ggtgcccctg
      961 ctcaacaaga acaaccccaa gttcctggcc atcaccaccg actgcctgca gctcctggcc
     1021 tacggcaacc aggagagcaa gctgatcatc ctggccaatg gtgggcccca ggccctcgtg
     1081 cagatcatgc gtaactacag ttatgaaaag ctgctctgga ccaccagtcg tgtgctcaag
     1141 gtgctatccg tgtgtcccag caataagcct gccattgtgg aggctggtgg gatgcaggcc
     1201 ctgggcaagc acctgaccag caacagcccc cgcctggtgc agaactgcct gtggaccctg
     1261 cgcaacctct cagatgtggc caccaagcag gagggcctgg agagtgtgct gaagattctg
     1321 gtgaatcagc tgagtgtgga tgacgtcaac gtcctcacct gtgccacggg cacactctcc
     1381 aacctgacat gcaacaacag caagaacaag acgctggtga cacagaacag cggtgtggag
     1441 gctctcatcc atgccatcct gcgtgctggt gacaaggacg acatcacgga gcctgccgtc
     1501 tgcgctctgc gccacctcac tagccgccac cctgaggccg agatggccca gaactctgtg
     1561 cgtctcaact atggcatccc agccatcgtg aagctgctca accagcccaa ccagtggcca
     1621 ctggtcaagg caaccatcgg cttgatcagg aatctggccc tgtgcccagc caaccatgcc
     1681 ccgctgcagg aggcagcggt catcccccgc ctcgtccaac tgctggtgaa ggcccaccag
     1741 gatgcccagc gccacgtagc tgcaggcaca cagcagccct acacggatgg tgtgaggatg
     1801 gaggagattg tggagggctg caccggagca ctgcacatcc tcgcccggga ccccatgaac
     1861 cgcatggaga tcttccggct caacaccatt cccctgtttg tgcagctcct gtactcgtcg
     1921 gtggagaaca tccagcgcgt ggctgccggg gtgctgtgtg agctggccca ggacaaggag
     1981 gcggccgacg ccattgatgc agagggggcc tcggccccac tcatggagtt gctgcactcc
     2041 cgcaacgagg gcactgccac ctacgctgct gccgtcctgt tccgcatctc cgaggacaag
     2101 aacccagact accggaagcg cgtgtccgtg gagctcacca actccctctt caagcatgac
     2161 ccggctgcct gggaggctgc ccagagcatg attcccatca atgagcccta tggagatgac
     2221 atggatgcca cctaccgccc catgtactcc agcgatgtgc cccttgaccc gctggagatg
     2281 cacatggaca tggatggaga ctaccccatc gacacctaca gcgacggcct caggcccccg
     2341 taccccactg cagaccacat gctggcctag gcggcctggc cccagtacgg ccccctcttt
     2401 gcaggctttt cctcctctct agaacctcct tctgttggag gccctcccat ctccccgctg
     2461 aaacctgcgc tccttttttg gggggatcct ttgctgctga gcttccccaa gcacggtgtg
     2521 ccctggcctg ccttcttctt gtgtctttgg tggggatggg gaggcctatt cctgctggcc
     2581 ccttctgggg gtggtgggca ggtgacacgg agtggcttga gcttctgggg atgcaggtcc
     2641 accgagcccc tgacccctgt ctgtccccgc tcccctaaca ggtgcggttc ctcatctgag
     2701 aggctctccg tgcaggcgat ggggcaagac agaaaagtgc ctgagctggg gaagccgggg
     2761 tgtaacttcc tgctgcaccc tgcgcctcca gaggtcctcc gtagggtctt tcttgggata
     2821 gtgttctgct cctgcttttc tgtcctgggc atgggtccag ggcctgacac cccctccccg
     2881 cccctgtggc cctggccact aaagcttcag actcaagtac ccattctgtt ttcccccagc
     2941 aacgcccctc caaacctcca gcctccctgt ctccagctgc ctgggcccgg aagggctttg
     3001 gttccttctc tgggtctgat tttctcactg aactccaccg accaactgcc ctaagccccc
     3061 agggcctcca gggcccaggt tcgagaccca aacccccaaa atccaaaact tctcttgaaa
     3121 agttcaggga ccgtccaggg gagatgggga ggagatatgg agtgagtcac ctgctccaga
     3181 agatgccagc ttctctctcc agggtgctta gttggctttg cccacccctc actccccagg
     3241 gagctctggg gacagcttcc tcacacccct gtcccaccca cacagctgcc ctagctgacc
     3301 ccgagaagtg ctcttggctg acccctctgg tgtgtggtga ggggctttct cttccccttc
     3361 ctgtttcaga cccccccatt tcccgcacat ggtgtggggg gctgggggag gtccaagcag
     3421 agtgttttat tattatcgct ttatgttttt ggttattggt ttttttgtat agaccaaagc
     3481 aaagaaaata aaaataacac agatg
//
