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JUP junction plakoglobin [ Homo sapiens (human) ]

Gene ID: 3728, updated on 22-May-2015
Official Symbol
JUPprovided by HGNC
Official Full Name
junction plakoglobinprovided by HGNC
Primary source
HGNC: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]
Orthologs
See JUP in MapViewer
Location:
17q21
Exon count:
19
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 prolyl 3-hydroxylase family member 4 (non-enzymatic) 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 
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 
NOT nuclear hormone receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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 IPI
Inferred from Physical Interaction
more info
PubMed 
signal transducer activity IEA
Inferred from Electronic Annotation
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
adherens junction assembly IEA
Inferred from Electronic Annotation
more info
 
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 junction assembly TAS
Traceable Author Statement
more info
 
cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 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
 
establishment of protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
NOT positive regulation of transcription from RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
 
protein heterooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of cell fate specification IBA
Inferred from Biological aspect of Ancestor
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 
regulation of ventricular cardiac muscle cell action potential 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
PubMed 
skin development IEA
Inferred from Electronic Annotation
more info
 
vascular endothelial growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
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 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 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 IDA
Inferred from Direct Assay
more info
PubMed 
fascia adherens IEA
Inferred from Electronic Annotation
more info
 
focal adhesion IDA
Inferred from Direct Assay
more info
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 
zonula adherens ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
junction plakoglobin
Names
junction plakoglobin
catenin (cadherin-associated protein), gamma 80kDa
desmoplakin III
desmoplakin-3

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_002230.2NP_002221.1  junction plakoglobin

    See identical proteins and their annotated locations for 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
    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 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 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
    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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006721873.1XP_006721936.1  

    See identical proteins and their annotated locations for XP_006721936.1

    UniProtKB/Swiss-Prot
    P14923
    Conserved Domains (1) summary
    cd00020
    Location:476613
    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_011524755.1XP_011523057.1  

    See identical proteins and their annotated locations for XP_011523057.1

    Conserved Domains (1) summary
    cd00020
    Location:476613
    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_006721875.1XP_006721938.1  

    See identical proteins and their annotated locations for XP_006721938.1

    UniProtKB/Swiss-Prot
    P14923
    Conserved Domains (1) summary
    cd00020
    Location:476613
    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_006721874.1XP_006721937.1  

    See identical proteins and their annotated locations for XP_006721937.1

    UniProtKB/Swiss-Prot
    P14923
    Conserved Domains (1) summary
    cd00020
    Location:476613
    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_011524757.1XP_011523059.1  

    See identical proteins and their annotated locations for XP_011523059.1

    Conserved Domains (1) summary
    cd00020
    Location:476613
    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_011524753.1XP_011523055.1  

    See identical proteins and their annotated locations for XP_011523055.1

    Conserved Domains (1) summary
    cd00020
    Location:476613
    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_006721878.1XP_006721941.1  

    See identical proteins and their annotated locations for XP_006721941.1

    UniProtKB/Swiss-Prot
    P14923
    Conserved Domains (1) summary
    cd00020
    Location:476613
    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_011524758.1XP_011523060.1  

    See identical proteins and their annotated locations for XP_011523060.1

    Conserved Domains (1) summary
    cd00020
    Location:476613
    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_011524754.1XP_011523056.1  

    See identical proteins and their annotated locations for XP_011523056.1

    Related
    ENSP00000377507, OTTHUMP00000164735, ENST00000393930, OTTHUMT00000257402
    Conserved Domains (1) summary
    cd00020
    Location:476613
    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, ...
  10. XM_011524756.1XP_011523058.1  

    See identical proteins and their annotated locations for XP_011523058.1

    Conserved Domains (1) summary
    cd00020
    Location:476613
    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 CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

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