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    JUP junction plakoglobin [ Homo sapiens (human) ]

    Gene ID: 3728, updated on 17-Jun-2019

    Summary

    Official Symbol
    JUPprovided by HGNC
    Official Full Name
    junction plakoglobinprovided by HGNC
    Primary source
    HGNC:HGNC:6207
    See related
    Ensembl:ENSG00000173801 MIM:173325
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DP3; PDGB; PKGB; CTNNG; DPIII
    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]
    Expression
    Broad expression in skin (RPKM 236.9), esophagus (RPKM 189.1) and 16 other tissues See more
    Orthologs

    Genomic context

    See JUP in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (41754607..41786768, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39910859..39942964, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 442 Neighboring gene huntingtin associated protein 1 Neighboring gene RNA, 7SL, cytoplasmic 399, pseudogene Neighboring gene prolyl 3-hydroxylase family member 4 (non-enzymatic) Neighboring gene FKBP prolyl isomerase 10

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-catenin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    alpha-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cadherin binding HDA PubMed 
    cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cadherin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cell adhesion molecule binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication IC
    Inferred by Curator
    more info
    PubMed 
    nuclear hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphatase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of cell wall IC
    Inferred by Curator
    more info
    PubMed 
    structural molecule activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    adherens junction organization TAS
    Traceable Author Statement
    more info
     
    bundle of His cell-Purkinje myocyte adhesion involved in cell communication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to indole-3-methanol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cornification TAS
    Traceable Author Statement
    more info
     
    cytoskeletal anchoring at plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    desmosome assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    desmosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    detection of mechanical stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endothelial cell-cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    keratinization TAS
    Traceable Author Statement
    more info
     
    negative regulation of blood vessel endothelial cell migration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of angiogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of canonical Wnt signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of cell-matrix adhesion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein heterooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    apicolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    catenin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    catenin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-cell adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cornified envelope TAS
    Traceable Author Statement
    more info
     
    cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytoplasmic side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    desmosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    fascia adherens IEA
    Inferred from Electronic Annotation
    more info
     
    ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    focal adhesion HDA PubMed 
    gamma-catenin-TCF7L2 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT hemidesmosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intercalated disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intermediate filament IEA
    Inferred from Electronic Annotation
    more info
     
    lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    protein-DNA complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    specific granule lumen TAS
    Traceable Author Statement
    more info
     
    zonula adherens ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    junction plakoglobin
    Names
    catenin (cadherin-associated protein), gamma 80kDa
    desmoplakin III
    desmoplakin-3

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009090.2 RefSeqGene

      Range
      5001..37106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_401

    mRNA and Protein(s)

    1. NM_001352773.1NP_001339702.1  junction plakoglobin

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC109319
      Consensus CDS
      CCDS11407.1
      Conserved Domains (3) summary
      smart00185
      Location:341381
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:393418
      ARM; armadillo repeat [structural motif]
      cl27106
      Location:328658
      PLN03200; cellulose synthase-interactive protein; Provisional
    2. NM_001352774.1NP_001339703.1  junction plakoglobin

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks alternate segments in the 5' and 3' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC109319
      Consensus CDS
      CCDS11407.1
      Conserved Domains (3) summary
      smart00185
      Location:341381
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:393418
      ARM; armadillo repeat [structural motif]
      cl27106
      Location:328658
      PLN03200; cellulose synthase-interactive protein; Provisional
    3. NM_001352775.1NP_001339704.1  junction plakoglobin

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks alternate segments in the 5' and 3' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC109319
      Consensus CDS
      CCDS11407.1
      Conserved Domains (3) summary
      smart00185
      Location:341381
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:393418
      ARM; armadillo repeat [structural motif]
      cl27106
      Location:328658
      PLN03200; cellulose synthase-interactive protein; Provisional
    4. NM_001352776.1NP_001339705.1  junction plakoglobin

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences in the 5' and 3' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC109319
      Consensus CDS
      CCDS11407.1
      Conserved Domains (3) summary
      smart00185
      Location:341381
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:393418
      ARM; armadillo repeat [structural motif]
      cl27106
      Location:328658
      PLN03200; cellulose synthase-interactive protein; Provisional
    5. NM_001352777.1NP_001339706.1  junction plakoglobin

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has a novel exon in the 5' UTR and lacks an alternate segment in the 3' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC109319
      Consensus CDS
      CCDS11407.1
      Conserved Domains (3) summary
      smart00185
      Location:341381
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:393418
      ARM; armadillo repeat [structural motif]
      cl27106
      Location:328658
      PLN03200; cellulose synthase-interactive protein; Provisional
    6. NM_002230.4NP_002221.1  junction plakoglobin

      See identical proteins and their annotated locations for NP_002221.1

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AC109319
      Consensus CDS
      CCDS11407.1
      UniProtKB/Swiss-Prot
      P14923
      UniProtKB/TrEMBL
      A0A0S2Z487
      Related
      ENSP00000377508.3, ENST00000393931.8
      Conserved Domains (3) summary
      smart00185
      Location:341381
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:393418
      ARM; armadillo repeat [structural motif]
      cl27106
      Location:328658
      PLN03200; cellulose synthase-interactive protein; Provisional
    7. NM_021991.3NP_068831.1  junction plakoglobin

      See identical proteins and their annotated locations for NP_068831.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment in the 3' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.
      Source sequence(s)
      AC109319
      Consensus CDS
      CCDS11407.1
      UniProtKB/Swiss-Prot
      P14923
      UniProtKB/TrEMBL
      A0A0S2Z487
      Related
      ENSP00000311113.5, ENST00000310706.9
      Conserved Domains (3) summary
      smart00185
      Location:341381
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:393418
      ARM; armadillo repeat [structural motif]
      cl27106
      Location:328658
      PLN03200; cellulose synthase-interactive protein; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      41754607..41786768 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721875.1XP_006721938.1  junction plakoglobin isoform X2

      See identical proteins and their annotated locations for XP_006721938.1

      UniProtKB/Swiss-Prot
      P14923
      UniProtKB/TrEMBL
      A0A0S2Z487
      Conserved Domains (3) summary
      smart00185
      Location:341381
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:393418
      ARM; armadillo repeat [structural motif]
      cl27106
      Location:328658
      PLN03200; cellulose synthase-interactive protein; Provisional
    2. XM_006721874.3XP_006721937.1  junction plakoglobin isoform X2

      See identical proteins and their annotated locations for XP_006721937.1

      UniProtKB/Swiss-Prot
      P14923
      UniProtKB/TrEMBL
      A0A0S2Z487
      Related
      ENSP00000377507.1, ENST00000393930.5
      Conserved Domains (3) summary
      smart00185
      Location:341381
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:393418
      ARM; armadillo repeat [structural motif]
      cl27106
      Location:328658
      PLN03200; cellulose synthase-interactive protein; Provisional
    3. XM_011524753.2XP_011523055.1  junction plakoglobin isoform X2

      See identical proteins and their annotated locations for XP_011523055.1

      UniProtKB/Swiss-Prot
      P14923
      UniProtKB/TrEMBL
      A0A0S2Z487
      Conserved Domains (3) summary
      smart00185
      Location:341381
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:393418
      ARM; armadillo repeat [structural motif]
      cl27106
      Location:328658
      PLN03200; cellulose synthase-interactive protein; Provisional
    4. XM_011524758.1XP_011523060.1  junction plakoglobin isoform X2

      See identical proteins and their annotated locations for XP_011523060.1

      UniProtKB/Swiss-Prot
      P14923
      UniProtKB/TrEMBL
      A0A0S2Z487
      Conserved Domains (3) summary
      smart00185
      Location:341381
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:393418
      ARM; armadillo repeat [structural motif]
      cl27106
      Location:328658
      PLN03200; cellulose synthase-interactive protein; Provisional
    5. XM_011524756.1XP_011523058.1  junction plakoglobin isoform X2

      See identical proteins and their annotated locations for XP_011523058.1

      UniProtKB/Swiss-Prot
      P14923
      UniProtKB/TrEMBL
      A0A0S2Z487
      Conserved Domains (3) summary
      smart00185
      Location:341381
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:393418
      ARM; armadillo repeat [structural motif]
      cl27106
      Location:328658
      PLN03200; cellulose synthase-interactive protein; Provisional
    6. XM_017024590.1XP_016880079.1  junction plakoglobin isoform X2

      UniProtKB/Swiss-Prot
      P14923
      UniProtKB/TrEMBL
      A0A0S2Z487
      Conserved Domains (3) summary
      smart00185
      Location:341381
      ARM; Armadillo/beta-catenin-like repeats
      sd00043
      Location:393418
      ARM; armadillo repeat [structural motif]
      cl27106
      Location:328658
      PLN03200; cellulose synthase-interactive protein; Provisional
    7. XM_017024588.2XP_016880077.1  junction plakoglobin isoform X1

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