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2024-03-29 02:12:44, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_021991               3211 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens junction plakoglobin (JUP), transcript variant 2,
            mRNA.
ACCESSION   NM_021991
VERSION     NM_021991.2  GI:213972606
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 3211)
  AUTHORS   Morgan,R.G., Pearn,L., Liddiard,K., Pumford,S.L., Burnett,A.K.,
            Tonks,A. and Darley,R.L.
  TITLE     gamma-Catenin is overexpressed in acute myeloid leukemia and
            promotes the stabilization and nuclear localization of beta-catenin
  JOURNAL   Leukemia 27 (2), 336-343 (2013)
   PUBMED   22858986
  REMARK    GeneRIF: Overexpression of gamma-catenin is associated with
            stabilization and nuclear localization of beta-catenin resulting in
            acute myeloid leukemia.
REFERENCE   2  (bases 1 to 3211)
  AUTHORS   Koyama-Nasu,R., Takahashi,R., Yanagida,S., Nasu-Nishimura,Y.,
            Oyama,M., Kozuka-Hata,H., Haruta,R., Manabe,E., Hoshino-Okubo,A.,
            Omi,H., Yanaihara,N., Okamoto,A., Tanaka,T. and Akiyama,T.
  TITLE     The cancer stem cell marker CD133 interacts with plakoglobin and
            controls desmoglein-2 protein levels
  JOURNAL   PLoS ONE 8 (1), E53710 (2013)
   PUBMED   23326490
  REMARK    GeneRIF: CD133 interacts with plakoglobin and knockdown of CD133 by
            RNA interference (RNAi) results in the downregulation of
            desmoglein-2.
REFERENCE   3  (bases 1 to 3211)
  AUTHORS   Wex,T., Kuester,D., Monkemuller,K., Stahr,A., Fry,L.C.,
            Kandulski,A., Kropf,S., Roessner,A. and Malfertheiner,P.
  TITLE     Assessment of desmosomal components (desmoglein 1-3, plakoglobin)
            in cardia mucosa in relation to gastroesophageal reflux disease and
            Helicobacter pylori infection
  JOURNAL   Hum. Pathol. 43 (10), 1745-1754 (2012)
   PUBMED   22521077
  REMARK    GeneRIF: Gastroesophageal reflux disease was specifically
            associated with elevated transcript levels of desmoglein 2 and
            plakoglobin
REFERENCE   4  (bases 1 to 3211)
  AUTHORS   Cooksley-Decasper,S., Reiser,H., Thommen,D.S., Biedermann,B.,
            Neidhart,M., Gawinecka,J., Cathomas,G., Franzeck,F.C., Wyss,C.,
            Klingenberg,R., Nanni,P., Roschitzki,B., Matter,C., Wolint,P.,
            Emmert,M.Y., Husmann,M., Amann-Vesti,B., Maier,W., Gay,S.,
            Luscher,T.F., von Eckardstein,A. and Hof,D.
  TITLE     Antibody phage display assisted identification of junction
            plakoglobin as a potential biomarker for atherosclerosis
  JOURNAL   PLoS ONE 7 (10), E47985 (2012)
   PUBMED   23110151
  REMARK    GeneRIF: Data indicate that plakoglobin and isoforms were present
            in atherosclerotic plaques and their secretomes.
REFERENCE   5  (bases 1 to 3211)
  AUTHORS   Franzen,C.A., Todorovic,V., Desai,B.V., Mirzoeva,S., Yang,X.J.,
            Green,K.J. and Pelling,J.C.
  TITLE     The desmosomal armadillo protein plakoglobin regulates prostate
            cancer cell adhesion and motility through vitronectin-dependent Src
            signaling
  JOURNAL   PLoS ONE 7 (7), E42132 (2012)
   PUBMED   22860065
  REMARK    GeneRIF: PG may inhibit Src by keeping VN low. Our results suggest
            that loss of intercellular adhesion due to reduced PG expression
            might be exacerbated by activation of Src through a PG-dependent
            mechanism
REFERENCE   6  (bases 1 to 3211)
  AUTHORS   Sacco,P.A., McGranahan,T.M., Wheelock,M.J. and Johnson,K.R.
  TITLE     Identification of plakoglobin domains required for association with
            N-cadherin and alpha-catenin
  JOURNAL   J. Biol. Chem. 270 (34), 20201-20206 (1995)
   PUBMED   7650039
REFERENCE   7  (bases 1 to 3211)
  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   8  (bases 1 to 3211)
  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 3211)
  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 3211)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2008 this sequence version replaced gi:12056467.
            
            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 (2) lacks an alternate segment in
            the 3' UTR, compared to transcript variant 1. Variants 1 and 2
            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 :: BC000441.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-125               AC109319.17        81552-81676         c
            126-341             AC109319.17        66611-66826         c
            342-601             AC109319.17        64382-64641         c
            602-840             AC109319.17        63933-64171         c
            841-1042            AC109319.17        62343-62544         c
            1043-1187           AC109319.17        59887-60031         c
            1188-1291           AC109319.17        59677-59780         c
            1292-1630           AC109319.17        57947-58285         c
            1631-1786           AC109319.17        53679-53834         c
            1787-1906           AC109319.17        53363-53482         c
            1907-2057           AC109319.17        52598-52748         c
            2058-2179           AC109319.17        52379-52500         c
            2180-2219           AC109319.17        51139-51178         c
            2220-2385           AC109319.17        50694-50859         c
            2386-3211           AC109319.17        49571-50396         c
FEATURES             Location/Qualifiers
     source          1..3211
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21"
     gene            1..3211
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /note="junction plakoglobin"
                     /db_xref="GeneID:3728"
                     /db_xref="HGNC:6207"
                     /db_xref="MIM:173325"
     exon            1..125
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /inference="alignment:Splign:1.39.8"
     exon            126..341
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /inference="alignment:Splign:1.39.8"
     CDS             134..2371
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /note="catenin (cadherin-associated protein), gamma 80kDa;
                     desmoplakin-3; desmoplakin III"
                     /codon_start=1
                     /product="junction plakoglobin"
                     /protein_id="NP_068831.1"
                     /db_xref="GI:12056468"
                     /db_xref="CCDS:CCDS11407.1"
                     /db_xref="GeneID:3728"
                     /db_xref="HGNC:6207"
                     /db_xref="MIM:173325"
                     /translation="
MEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSSKGIMEEDEACGRQYTLKKTTTYTQGVPPSQGDLEYQMSTTARAKRVREAMCPGVSGEDSSLLLATQVEGQATNLQRLAEPSQLLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVTKAAMIVNQLSKKEASRRALMGSPQLVAAVVRTMQNTSDLDTARCTTSILHNLSHHREGLLAIFKSGGIPALVRMLSSPVESVLFYAITTLHNLLLYQEGAKMAVRLADGLQKMVPLLNKNNPKFLAITTDCLQLLAYGNQESKLIILANGGPQALVQIMRNYSYEKLLWTTSRVLKVLSVCPSNKPAIVEAGGMQALGKHLTSNSPRLVQNCLWTLRNLSDVATKQEGLESVLKILVNQLSVDDVNVLTCATGTLSNLTCNNSKNKTLVTQNSGVEALIHAILRAGDKDDITEPAVCALRHLTSRHPEAEMAQNSVRLNYGIPAIVKLLNQPNQWPLVKATIGLIRNLALCPANHAPLQEAAVIPRLVQLLVKAHQDAQRHVAAGTQQPYTDGVRMEEIVEGCTGALHILARDPMNRMEIFRLNTIPLFVQLLYSSVENIQRVAAGVLCELAQDKEAADAIDAEGASAPLMELLHSRNEGTATYAAAVLFRISEDKNPDYRKRVSVELTNSLFKHDPAAWEAAQSMIPINEPYGDDMDATYRPMYSSDVPLDPLEMHMDMDGDYPIDTYSDGLRPPYPTADHMLA
"
     misc_feature    134..136
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N-acetylmethionine; propagated from
                     UniProtKB/Swiss-Prot (P14923.3); acetylation site"
     misc_feature    191..193
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    350..>859
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /note="VATPase_H, regulatory vacuolar ATP synthase subunit
                     H (Vma13p); activation component of the peripheral V1
                     complex of V-ATPase, a heteromultimeric enzyme which uses
                     ATP to actively transport protons into organelles and
                     extracellular compartments. The...; Region: VATPase_H;
                     cd00256"
                     /db_xref="CDD:29331"
     misc_feature    order(458..505,509..538,557..580,587..628,638..661,
                     668..688,695..712,734..811,815..838,854..859)
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /note="armadillo-like superhelical repeats; other site"
                     /db_xref="CDD:29331"
     misc_feature    order(500..502,620..622,743..745,755..757)
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /note="putative peptide binding site; other site"
                     /db_xref="CDD:29331"
     misc_feature    527..1024
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P14923.3);
                     Region: Interaction with DSC1 and DSG1"
     misc_feature    530..532
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:00655"
     misc_feature    677..679
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P14923.3); phosphorylation site"
     misc_feature    677..679
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    791..1150
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /note="Armadillo/beta-catenin-like repeats. An
                     approximately 40 amino acid long tandemly repeated
                     sequence motif first identified in the Drosophila segment
                     polarity gene armadillo; these repeats were also found in
                     the mammalian armadillo homolog beta-catenin; Region: ARM;
                     cd00020"
                     /db_xref="CDD:28904"
     misc_feature    order(863..865,875..877,887..889,980..982,992..994,
                     1001..1003,1013..1015,1121..1123,1130..1132,1139..1144)
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /note="protein binding surface [polypeptide binding];
                     other site"
                     /db_xref="CDD:28904"
     misc_feature    1025..1156
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P14923.3);
                     Region: ARM 5"
     misc_feature    1049..1390
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /note="Armadillo/beta-catenin-like repeats. An
                     approximately 40 amino acid long tandemly repeated
                     sequence motif first identified in the Drosophila segment
                     polarity gene armadillo; these repeats were also found in
                     the mammalian armadillo homolog beta-catenin; Region: ARM;
                     cd00020"
                     /db_xref="CDD:28904"
     misc_feature    order(1118..1120,1130..1132,1142..1144,1232..1234,
                     1244..1246,1253..1255,1265..1267,1361..1363,1370..1372,
                     1379..1384)
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /note="protein binding surface [polypeptide binding];
                     other site"
                     /db_xref="CDD:28904"
     misc_feature    1157..1276
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P14923.3);
                     Region: ARM 6"
     misc_feature    1280..1393
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P14923.3);
                     Region: ARM 7"
     misc_feature    1301..1660
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /note="Armadillo/beta-catenin-like repeats. An
                     approximately 40 amino acid long tandemly repeated
                     sequence motif first identified in the Drosophila segment
                     polarity gene armadillo; these repeats were also found in
                     the mammalian armadillo homolog beta-catenin; Region: ARM;
                     cd00020"
                     /db_xref="CDD:28904"
     misc_feature    order(1358..1360,1370..1372,1382..1384,1481..1483,
                     1493..1495,1502..1504,1514..1516,1631..1633,1640..1642,
                     1649..1654)
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /note="protein binding surface [polypeptide binding];
                     other site"
                     /db_xref="CDD:28904"
     misc_feature    1400..1525
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P14923.3);
                     Region: ARM 8"
     misc_feature    1541..1663
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P14923.3);
                     Region: ARM 9"
     misc_feature    1559..1966
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /note="Armadillo/beta-catenin-like repeats. An
                     approximately 40 amino acid long tandemly repeated
                     sequence motif first identified in the Drosophila segment
                     polarity gene armadillo; these repeats were also found in
                     the mammalian armadillo homolog beta-catenin; Region: ARM;
                     cd00020"
                     /db_xref="CDD:28904"
     misc_feature    order(1628..1630,1640..1642,1652..1654,1805..1807,
                     1817..1819,1826..1828,1838..1840,1940..1942,1949..1951,
                     1958..1963)
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /note="protein binding surface [polypeptide binding];
                     other site"
                     /db_xref="CDD:28904"
     misc_feature    1667..1786
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P14923.3);
                     Region: ARM 10"
     misc_feature    1781..1783
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:01491"
     misc_feature    1781..1783
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:00655"
     misc_feature    1853..2116
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P14923.3);
                     Region: Interaction with DSC1"
     misc_feature    2063..2065
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:01819"
     misc_feature    2111..2113
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    2126..2128
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P14923.3); phosphorylation site"
     misc_feature    2126..2128
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     exon            342..601
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /inference="alignment:Splign:1.39.8"
     exon            602..840
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /inference="alignment:Splign:1.39.8"
     STS             650..902
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /standard_name="JUP"
                     /db_xref="UniSTS:44727"
     exon            841..1042
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /inference="alignment:Splign:1.39.8"
     exon            1043..1187
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /inference="alignment:Splign:1.39.8"
     exon            1188..1291
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /inference="alignment:Splign:1.39.8"
     exon            1292..1630
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /inference="alignment:Splign:1.39.8"
     variation       1357
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2230408"
     exon            1631..1786
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /inference="alignment:Splign:1.39.8"
     exon            1787..1906
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /inference="alignment:Splign:1.39.8"
     exon            1907..2057
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /inference="alignment:Splign:1.39.8"
     exon            2058..2179
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /inference="alignment:Splign:1.39.8"
     exon            2180..2219
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /inference="alignment:Splign:1.39.8"
     STS             2218..2365
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /standard_name="Jup"
                     /db_xref="UniSTS:143648"
     exon            2220..2385
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /inference="alignment:Splign:1.39.8"
     exon            2386..3211
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /inference="alignment:Splign:1.39.8"
     STS             2497..2614
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /standard_name="G07167"
                     /db_xref="UniSTS:55163"
     STS             2716..2841
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /standard_name="RH17679"
                     /db_xref="UniSTS:54645"
     variation       3031
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1126985"
     STS             3048..3186
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /standard_name="SHGC-30259"
                     /db_xref="UniSTS:80066"
     variation       3074
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1801501"
     polyA_signal    3191..3196
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
     polyA_site      3211
                     /gene="JUP"
                     /gene_synonym="ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB"
ORIGIN      
tgagttgctgccttggccagagtccggagcagccgccgcccgaccacgccgagctcagttcgctgtccgcgccggctcccaccccggcccgaccccgacccggcccggtcaggccccatactcagtagccacgatggaggtgatgaacctgatggagcagcctatcaaggtgactgagtggcagcagacatacacctacgactcgggtatccactcgggcgccaacacctgcgtgccctccgtcagcagcaagggcatcatggaggaggatgaggcctgcgggcgccagtacacgctcaagaaaaccaccacttacacccagggggtgccccccagccaaggtgatctggagtaccagatgtccacaacagccagggccaaacgggtgcgggaggccatgtgccctggtgtgtcaggcgaggacagctcgcttctgctggccacccaggtggaggggcaggccaccaacctgcagcgactggccgagccgtcccagctgctcaagtcggccattgtgcatctcatcaactaccaggacgatgccgagctggccactcgcgccctgcccgagctcaccaaactgctcaacgacgaggacccggtggtggtgaccaaggcggccatgattgtgaaccagctgtcgaagaaggaggcgtcgcggcgggccctgatgggctcgccccagctggtggccgctgtcgtgcgtaccatgcagaataccagcgacctggacacagcccgctgcaccaccagcatcctgcacaacctctcccaccaccgggaggggctgctcgccatcttcaagtcgggtggcatccctgctctggtccgcatgctcagctcccctgtggagtcggtcctgttctatgccatcaccacgctgcacaacctgctcctgtaccaggagggcgccaagatggccgtgcgcctggccgacgggctgcaaaagatggtgcccctgctcaacaagaacaaccccaagttcctggccatcaccaccgactgcctgcagctcctggcctacggcaaccaggagagcaagctgatcatcctggccaatggtgggccccaggccctcgtgcagatcatgcgtaactacagttatgaaaagctgctctggaccaccagtcgtgtgctcaaggtgctatccgtgtgtcccagcaataagcctgccattgtggaggctggtgggatgcaggccctgggcaagcacctgaccagcaacagcccccgcctggtgcagaactgcctgtggaccctgcgcaacctctcagatgtggccaccaagcaggagggcctggagagtgtgctgaagattctggtgaatcagctgagtgtggatgacgtcaacgtcctcacctgtgccacgggcacactctccaacctgacatgcaacaacagcaagaacaagacgctggtgacacagaacagcggtgtggaggctctcatccatgccatcctgcgtgctggtgacaaggacgacatcacggagcctgccgtctgcgctctgcgccacctcactagccgccaccctgaggccgagatggcccagaactctgtgcgtctcaactatggcatcccagccatcgtgaagctgctcaaccagcccaaccagtggccactggtcaaggcaaccatcggcttgatcaggaatctggccctgtgcccagccaaccatgccccgctgcaggaggcagcggtcatcccccgcctcgtccaactgctggtgaaggcccaccaggatgcccagcgccacgtagctgcaggcacacagcagccctacacggatggtgtgaggatggaggagattgtggagggctgcaccggagcactgcacatcctcgcccgggaccccatgaaccgcatggagatcttccggctcaacaccattcccctgtttgtgcagctcctgtactcgtcggtggagaacatccagcgcgtggctgccggggtgctgtgtgagctggcccaggacaaggaggcggccgacgccattgatgcagagggggcctcggccccactcatggagttgctgcactcccgcaacgagggcactgccacctacgctgctgccgtcctgttccgcatctccgaggacaagaacccagactaccggaagcgcgtgtccgtggagctcaccaactccctcttcaagcatgacccggctgcctgggaggctgcccagagcatgattcccatcaatgagccctatggagatgacatggatgccacctaccgccccatgtactccagcgatgtgccccttgacccgctggagatgcacatggacatggatggagactaccccatcgacacctacagcgacggcctcaggcccccgtaccccactgcagaccacatgctggcctaggcggcctggccccagtgcggttcctcatctgagaggctctccgtgcaggcgatggggcaagacagaaaagtgcctgagctggggaagccggggtgtaacttcctgctgcaccctgcgcctccagaggtcctccgtagggtctttcttgggatagtgttctgctcctgcttttctgtcctgggcatgggtccagggcctgacaccccctccccgcccctgtggccctggccactaaagcttcagactcaagtacccattctgttttcccccagcaacgcccctccaaacctccagcctccctgtctccagctgcctgggcccggaagggctttggttccttctctgggtctgattttctcactgaactccaccgaccaactgccctaagcccccagggcctccagggcccaggttcgagacccaaacccccaaaatccaaaacttctcttgaaaagttcagggaccgtccaggggagatggggaggagatatggagtgagtcacctgctccagaagatgccagcttctctctccagggtgcttagttggctttgcccacccctcactccccagggagctctggggacagcttcctcacacccctgtcccacccacacagctgccctagctgaccccgagaagtgctcttggctgacccctctggtgtgtggtgaggggctttctcttccccttcctgtttcagacccccccatttcccgcacatggtgtggggggctgggggaggtccaagcagagtgttttattattatcgctttatgtttttggttattggtttttttgtatagaccaaagcaaagaaaataaaaataacacagatgcg
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:3728 -> Molecular function: GO:0003713 [transcription coactivator activity] evidence: IDA
            GeneID:3728 -> Molecular function: GO:0005198 [structural molecule activity] evidence: IBA
            GeneID:3728 -> Molecular function: GO:0005198 [structural molecule activity] evidence: NAS
            GeneID:3728 -> Molecular function: GO:0005199 [structural constituent of cell wall] evidence: IC
            GeneID:3728 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:3728 -> Molecular function: GO:0019901 [protein kinase binding] evidence: IBA
            GeneID:3728 -> Molecular function: GO:0019903 [protein phosphatase binding] evidence: IPI
            GeneID:3728 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: ISS
            GeneID:3728 -> Molecular function: GO:0045294 [alpha-catenin binding] evidence: IPI
            GeneID:3728 -> Molecular function: GO:0045296 [cadherin binding] evidence: IPI
            GeneID:3728 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IKR
            GeneID:3728 -> Biological process: GO:0000902 [cell morphogenesis] evidence: IBA
            GeneID:3728 -> Biological process: GO:0002159 [desmosome assembly] evidence: IDA
            GeneID:3728 -> Biological process: GO:0003136 [negative regulation of heart induction by canonical Wnt receptor signaling pathway] evidence: IBA
            GeneID:3728 -> Biological process: GO:0003181 [atrioventricular valve morphogenesis] evidence: IBA
            GeneID:3728 -> Biological process: GO:0003308 [negative regulation of Wnt receptor signaling pathway involved in heart development] evidence: IBA
            GeneID:3728 -> Biological process: GO:0007016 [cytoskeletal anchoring at plasma membrane] evidence: IBA
            GeneID:3728 -> Biological process: GO:0007016 [cytoskeletal anchoring at plasma membrane] evidence: NAS
            GeneID:3728 -> Biological process: GO:0007369 [gastrulation] evidence: IBA
            GeneID:3728 -> Biological process: GO:0007398 [ectoderm development] evidence: IBA
            GeneID:3728 -> Biological process: GO:0007399 [nervous system development] evidence: IBA
            GeneID:3728 -> Biological process: GO:0016331 [morphogenesis of embryonic epithelium] evidence: IBA
            GeneID:3728 -> Biological process: GO:0016337 [cell-cell adhesion] evidence: IDA
            GeneID:3728 -> Biological process: GO:0016477 [cell migration] evidence: IMP
            GeneID:3728 -> Biological process: GO:0034329 [cell junction assembly] evidence: TAS
            GeneID:3728 -> Biological process: GO:0034332 [adherens junction organization] evidence: TAS
            GeneID:3728 -> Biological process: GO:0042127 [regulation of cell proliferation] evidence: IDA
            GeneID:3728 -> Biological process: GO:0042307 [positive regulation of protein import into nucleus] evidence: IDA
            GeneID:3728 -> Biological process: GO:0043588 [skin development] evidence: IBA
            GeneID:3728 -> Biological process: GO:0045216 [cell-cell junction organization] evidence: TAS
            GeneID:3728 -> Biological process: GO:0048599 [oocyte development] evidence: IBA
            GeneID:3728 -> Biological process: GO:0050982 [detection of mechanical stimulus] evidence: IDA
            GeneID:3728 -> Biological process: GO:0051091 [positive regulation of sequence-specific DNA binding transcription factor activity] evidence: IDA
            GeneID:3728 -> Biological process: GO:0051291 [protein heterooligomerization] evidence: IEA
            GeneID:3728 -> Biological process: GO:0071603 [endothelial cell-cell adhesion] evidence: ISS
            GeneID:3728 -> Biological process: GO:0071681 [cellular response to indole-3-methanol] evidence: IDA
            GeneID:3728 -> Biological process: GO:0086005 [regulation of ventricular cardiac muscle cell action potential] evidence: IMP
            GeneID:3728 -> Biological process: GO:0086069 [bundle of His cell to Purkinje myocyte communication] evidence: IMP
            GeneID:3728 -> Biological process: GO:0086091 [regulation of heart rate by cardiac conduction] evidence: IMP
            GeneID:3728 -> Biological process: GO:0090263 [positive regulation of canonical Wnt receptor signaling pathway] evidence: IC
            GeneID:3728 -> Cellular component: GO:0005634 [nucleus] evidence: IMP
            GeneID:3728 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IKR
            GeneID:3728 -> Cellular component: GO:0005737 [cytoplasm] evidence: IMP
            GeneID:3728 -> Cellular component: GO:0005829 [cytosol] evidence: ISS
            GeneID:3728 -> Cellular component: GO:0005856 [cytoskeleton] evidence: ISS
            GeneID:3728 -> Cellular component: GO:0005882 [intermediate filament] evidence: IEA
            GeneID:3728 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
            GeneID:3728 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
            GeneID:3728 -> Cellular component: GO:0005911 [cell-cell junction] evidence: IDA
            GeneID:3728 -> Cellular component: GO:0005913 [cell-cell adherens junction] evidence: IDA
            GeneID:3728 -> Cellular component: GO:0005915 [zonula adherens] evidence: IBA
            GeneID:3728 -> Cellular component: GO:0005915 [zonula adherens] evidence: ISS
            GeneID:3728 -> Cellular component: GO:0005916 [fascia adherens] evidence: IBA
            GeneID:3728 -> Cellular component: GO:0009898 [internal side of plasma membrane] evidence: IBA
            GeneID:3728 -> Cellular component: GO:0009898 [internal side of plasma membrane] evidence: ISS
            GeneID:3728 -> Cellular component: GO:0014704 [intercalated disc] evidence: IDA
            GeneID:3728 -> Cellular component: GO:0015629 [actin cytoskeleton] evidence: IBA
            GeneID:3728 -> Cellular component: GO:0016323 [basolateral plasma membrane] evidence: IBA
            GeneID:3728 -> Cellular component: GO:0016327 [apicolateral plasma membrane] evidence: IEA
            GeneID:3728 -> Cellular component: GO:0016328 [lateral plasma membrane] evidence: IEA
            GeneID:3728 -> Cellular component: GO:0016342 [catenin complex] evidence: IDA
            GeneID:3728 -> Cellular component: GO:0030018 [Z disc] evidence: IBA
            GeneID:3728 -> Cellular component: GO:0030056 [hemidesmosome] evidence: ISS
            GeneID:3728 -> Cellular component: GO:0030057 [desmosome] evidence: IDA
            GeneID:3728 -> Cellular component: GO:0032993 [protein-DNA complex] evidence: IDA
            GeneID:3728 -> Cellular component: GO:0071665 [gamma-catenin-TCF7L2 complex] evidence: IDA

by @meso_cacase at DBCLS
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