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JUP junction plakoglobin [ Homo sapiens (human) ]

Gene ID: 3728, updated on 12-Aug-2018

Summary

Official Symbol
JUPprovided by HGNC
Official Full Name
junction plakoglobinprovided by HGNC
Primary source
HGNC:HGNC:6207
See related
Ensembl:ENSG00000173801 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
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 current GRCh38.p12 (GCF_000001405.38) 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 FK506 binding protein 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 Jun 15 11:32:44 2016

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 nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
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_002230.3NP_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, OTTHUMP00000164738, ENST00000393931.7
    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, OTTHUMP00000164732, 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 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 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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