Homo sapiens Gene: JUP
Summary
InnateDB Gene IDBG-49784.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol JUP
Gene Name junction plakoglobin
Synonyms ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB;
Species Homo sapiens
Ensembl Gene ENSG00000173801
Encoded Proteins
junction plakoglobin
junction plakoglobin
junction plakoglobin
junction plakoglobin
junction plakoglobin
junction plakoglobin
junction plakoglobin
junction plakoglobin
junction plakoglobin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:41754604-41786931
Strand Reverse strand
Band q21.2
Transcripts
ENST00000310706 ENSP00000311113
ENST00000393931 ENSP00000377508
ENST00000393930 ENSP00000377507
ENST00000449889 ENSP00000389886
ENST00000437187 ENSP00000394146
ENST00000420370 ENSP00000411449
ENST00000424457 ENSP00000401034
ENST00000437369 ENSP00000409948
ENST00000465293 ENSP00000467065
ENST00000540235 ENSP00000441751
ENST00000585793
ENST00000591690 ENSP00000468347
ENST00000589036
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 129 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
Experimentally validated
Total 129 [view]
Protein-Protein 128 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 11 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003713 transcription coactivator activity
GO:0005198 structural molecule activity
GO:0005199 structural constituent of cell wall
GO:0005488 binding
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0019903 protein phosphatase binding
GO:0042803 protein homodimerization activity
GO:0045294 alpha-catenin binding
GO:0045296 cadherin binding
Biological Process
GO:0000902 cell morphogenesis
GO:0002159 desmosome assembly
GO:0003136 negative regulation of heart induction by canonical Wnt receptor signaling pathway
GO:0003181 atrioventricular valve morphogenesis
GO:0003308 negative regulation of Wnt receptor signaling pathway involved in heart development
GO:0007016 cytoskeletal anchoring at plasma membrane
GO:0007155 cell adhesion
GO:0007369 gastrulation
GO:0007398 ectoderm development
GO:0007399 nervous system development
GO:0016331 morphogenesis of embryonic epithelium
GO:0016337 single organismal cell-cell adhesion
GO:0016477 cell migration
GO:0034329 cell junction assembly
GO:0034332 adherens junction organization
GO:0042127 regulation of cell proliferation
GO:0042307 positive regulation of protein import into nucleus
GO:0043588 skin development
GO:0045216 cell-cell junction organization
GO:0048599 oocyte development
GO:0050982 detection of mechanical stimulus
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0051291 protein heterooligomerization
GO:0071603 endothelial cell-cell adhesion
GO:0071681 cellular response to indole-3-methanol
GO:0086005 ventricular cardiac muscle cell action potential
GO:0086069 bundle of His cell to Purkinje myocyte communication
GO:0086091 regulation of heart rate by cardiac conduction
GO:0090002 establishment of protein localization to plasma membrane
GO:0090263 positive regulation of canonical Wnt signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005882 intermediate filament
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005913 cell-cell adherens junction
GO:0005915 zonula adherens
GO:0005916 fascia adherens
GO:0009898 cytoplasmic side of plasma membrane
GO:0014704 intercalated disc
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0016327 apicolateral plasma membrane
GO:0016328 lateral plasma membrane
GO:0016342 catenin complex
GO:0030018 Z disc
GO:0030057 desmosome
GO:0032993 protein-DNA complex
GO:0070062 extracellular vesicular exosome
GO:0071665 gamma-catenin-TCF7L2 complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
EGFR1 pathway
Wnt pathway
REACTOME
Cell-Cell communication pathway
Cell junction organization pathway
Signaling by VEGF pathway
VEGFR2 mediated vascular permeability pathway
Signal Transduction pathway
VEGFA-VEGFR2 Pathway pathway
Cell-cell junction organization pathway
Adherens junctions interactions pathway
KEGG
Pathways in cancer pathway
Acute myeloid leukemia pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
INOH
PID BIOCARTA
PID NCI
E-cadherin signaling in the nascent adherens junction
Posttranslational regulation of adherens junction stability and dissassembly
Cross-References
SwissProt
TrEMBL C9J826 C9JK18 C9JPI2 C9JTX4 K7ERP3
UniProt Splice Variant
Entrez Gene 3728
UniGene
RefSeq NM_021991 NM_002230 XM_006721877 XM_006721876 XM_006721875 XM_006721874 XM_006721873 XM_006721872 XM_005257313 XM_006721878 XM_006721871 NM_000422
HUGO HGNC:6207
OMIM 173325
CCDS CCDS11407 CCDS11402
HPRD 01414
IMGT
EMBL AC109319 AC130686
GenPept
RNA Seq Atlas 3728