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JUP junction plakoglobin [ Homo sapiens (human) ]

Gene ID: 3728, updated on 11-Aug-2014
Official Symbol
JUPprovided by HGNC
Official Full Name
junction plakoglobinprovided by HGNC
Primary source
HGNC:6207
See related
Ensembl:ENSG00000173801; HPRD:01414; MIM:173325; Vega:OTTHUMG00000133494
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; ARVD12
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]
Location:
17q21
Exon count:
20
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (41754607..41786712, 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 gastrin Neighboring gene huntingtin-associated protein 1 Neighboring gene leprecan-like 4 Neighboring gene FK506 binding protein 10, 65 kDa Neighboring gene 5'-nucleotidase, cytosolic IIIB

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
cadherin binding IPI
Inferred from Physical Interaction
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 IBA
Inferred from Biological aspect of Ancestor
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
 
structural molecule activity NAS
Non-traceable Author Statement
more info
 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
adherens junction organization TAS
Traceable Author Statement
more info
 
atrioventricular valve morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
bundle of His cell to Purkinje myocyte communication IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell junction assembly TAS
Traceable Author Statement
more info
 
cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
cell-cell junction organization TAS
Traceable Author Statement
more info
 
cellular response to indole-3-methanol IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeletal anchoring at plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
cytoskeletal anchoring at plasma membrane NAS
Non-traceable Author Statement
more info
 
desmosome assembly IDA
Inferred from Direct Assay
more info
 
desmosome assembly IMP
Inferred from Mutant Phenotype
more info
 
detection of mechanical stimulus IDA
Inferred from Direct Assay
more info
PubMed 
ectoderm development IBA
Inferred from Biological aspect of Ancestor
more info
 
endothelial cell-cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
establishment of protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
 
gastrulation IBA
Inferred from Biological aspect of Ancestor
more info
 
morphogenesis of embryonic epithelium IBA
Inferred from Biological aspect of Ancestor
more info
 
negative regulation of Wnt signaling pathway involved in heart development IBA
Inferred from Biological aspect of Ancestor
more info
 
negative regulation of heart induction by canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
NOT negative regulation of transcription from RNA polymerase II promoter IKR
Inferred from Key Residues
more info
 
nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
 
oocyte development IBA
Inferred from Biological aspect of Ancestor
more info
 
positive regulation of canonical Wnt signaling pathway IC
Inferred by Curator
more info
PubMed 
positive regulation of protein import into nucleus IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein heterooligomerization IEA
Inferred from Electronic Annotation
more info
 
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 
single organismal cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
single organismal cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
 
skin development IBA
Inferred from Biological aspect of Ancestor
more info
 
ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
 
actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
apicolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
catenin complex IDA
Inferred from Direct Assay
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 
cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasmic side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
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 vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
fascia adherens IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
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 
NOT transcription factor complex IKR
Inferred from Key Residues
more info
 
zonula adherens IBA
Inferred from Biological aspect of Ancestor
more info
 
zonula adherens ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
junction plakoglobin
Names
junction plakoglobin
desmoplakin-3
desmoplakin III
catenin (cadherin-associated protein), gamma 80kDa

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 

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

mRNA and Protein(s)

  1. NM_002230.2NP_002221.1  junction plakoglobin

    See proteins identical to NP_002221.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC109319
    Consensus CDS
    CCDS11407.1
    UniProtKB/Swiss-Prot
    P14923
    Related
    ENSP00000377508, OTTHUMP00000164738, ENST00000393931, OTTHUMT00000257406
    Conserved Domains (1) summary
    cd00020
    Location:476613
    Blast Score: 187
    ARM; 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, ...
  2. NM_021991.2NP_068831.1  junction plakoglobin

    See proteins identical to NP_068831.1

    Status: REVIEWED

    Description
    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.
    Source sequence(s)
    AC109319
    Consensus CDS
    CCDS11407.1
    UniProtKB/Swiss-Prot
    P14923
    Related
    ENSP00000311113, OTTHUMP00000164732, ENST00000310706, OTTHUMT00000257399
    Conserved Domains (1) summary
    cd00020
    Location:476613
    Blast Score: 187
    ARM; 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, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    41754607..41786712
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721873.1XP_006721936.1  

    See proteins identical to XP_006721936.1

    UniProtKB/Swiss-Prot
    P14923
    Conserved Domains (1) summary
    cd00020
    Location:476613
    Blast Score: 187
    ARM; 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, ...
  2. XM_006721875.1XP_006721938.1  

    See proteins identical to XP_006721938.1

    UniProtKB/Swiss-Prot
    P14923
    Conserved Domains (1) summary
    cd00020
    Location:476613
    Blast Score: 187
    ARM; 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, ...
  3. XM_006721874.1XP_006721937.1  

    See proteins identical to XP_006721937.1

    UniProtKB/Swiss-Prot
    P14923
    Conserved Domains (1) summary
    cd00020
    Location:476613
    Blast Score: 187
    ARM; 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, ...
  4. XM_006721878.1XP_006721941.1  

    See proteins identical to XP_006721941.1

    UniProtKB/Swiss-Prot
    P14923
    Conserved Domains (1) summary
    cd00020
    Location:476613
    Blast Score: 187
    ARM; 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, ...
  5. XM_006721877.1XP_006721940.1  

    See proteins identical to XP_006721940.1

    UniProtKB/Swiss-Prot
    P14923
    Conserved Domains (1) summary
    cd00020
    Location:476613
    Blast Score: 187
    ARM; 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, ...
  6. XM_005257313.1XP_005257370.1  

    See proteins identical to XP_005257370.1

    Conserved Domains (1) summary
    cd00020
    Location:514651
    Blast Score: 187
    ARM; 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, ...
  7. XM_006721871.1XP_006721934.1  

    See proteins identical to XP_006721934.1

    Conserved Domains (1) summary
    cd00020
    Location:514651
    Blast Score: 187
    ARM; 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, ...
  8. XM_006721876.1XP_006721939.1  

    See proteins identical to XP_006721939.1

    UniProtKB/Swiss-Prot
    P14923
    Conserved Domains (1) summary
    cd00020
    Location:476613
    Blast Score: 187
    ARM; 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, ...
  9. XM_006721872.1XP_006721935.1  

    Conserved Domains (1) summary
    cd00020
    Location:493630
    Blast Score: 188
    ARM; 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, ...

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    35672969..35704921
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    40146477..40178584
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)