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JUP junction plakoglobin [ Homo sapiens (human) ]

Gene ID: 3728, updated on 23-Nov-2021

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
PG; 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
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Genomic context

See JUP in Genome Data Viewer
Location:
17q21.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (41754608..41786711, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39910861..39942963, 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 CRISPRi-validated cis-regulatory element chr17.2540 Neighboring gene prolyl 3-hydroxylase family member 4 (inactive)

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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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_001352773.2NP_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 (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  2. NM_001352774.2NP_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 (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  3. NM_001352775.2NP_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 (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  4. NM_001352776.2NP_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 (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  5. NM_001352777.2NP_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
    Related
    ENSP00000377507.1, ENST00000393930.5
    Conserved Domains (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  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 (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  7. NM_021991.4NP_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 (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    41754608..41786711 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 (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  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
    Conserved Domains (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  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 (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  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 (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  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 (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  6. XM_017024590.1XP_016880079.1  junction plakoglobin isoform X2

    UniProtKB/Swiss-Prot
    P14923
    UniProtKB/TrEMBL
    A0A0S2Z487
    Conserved Domains (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  7. XM_017024588.2XP_016880077.1  junction plakoglobin isoform X1

    Conserved Domains (3) summary
    smart00185
    Location:358398
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:345675
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:410435
    ARM; armadillo repeat [structural motif]
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