JUP
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| junction plakoglobin | MIM:173325 | Ensembl:ENSG00000173801 | HGNC:HGNC:6207 | PA30009 | 17q21.2 |
GO terms in JUP
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0003713 | transcription coactivator activity |
| MF | IDA | GO:0003713 | transcription coactivator activity |
| MF | NAS | GO:0005198 | structural molecule activity |
| MF | IC | GO:0005199 | structural constituent of cell wall |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0019901 | protein kinase binding |
| MF | IBA | GO:0019903 | protein phosphatase binding |
| MF | IPI | GO:0019903 | protein phosphatase binding |
| MF | IBA | GO:0035257 | nuclear hormone receptor binding |
| MF | ISS | GO:0042803 | protein homodimerization activity |
| MF | IBA | GO:0045294 | alpha-catenin binding |
| MF | IPI | GO:0045294 | alpha-catenin binding |
| MF | HDA | GO:0045296 | cadherin binding |
| MF | IBA | GO:0045296 | cadherin binding |
| MF | IPI | GO:0045296 | cadherin binding |
| MF | IPI | GO:0050839 | cell adhesion molecule binding |
| MF | IC | GO:0086083 | cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication |
| CC | TAS | GO:0001533 | cornified envelope |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IMP | GO:0005634 | nucleus |
| CC | IMP | GO:0005737 | cytoplasm |
| CC | ISS | GO:0005829 | cytosol |
| CC | ISS | GO:0005856 | cytoskeleton |
| CC | IEA | GO:0005882 | intermediate filament |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005911 | cell-cell junction |
| CC | IBA | GO:0005913 | cell-cell adherens junction |
| CC | IDA | GO:0005913 | cell-cell adherens junction |
| CC | ISS | GO:0005915 | zonula adherens |
| CC | IEA | GO:0005916 | fascia adherens |
| CC | HDA | GO:0005925 | focal adhesion |
| CC | ISS | GO:0009898 | cytoplasmic side of plasma membrane |
| CC | IDA | GO:0014704 | intercalated disc |
| CC | IEA | GO:0015629 | actin cytoskeleton |
| CC | IEA | GO:0016327 | apicolateral plasma membrane |
| CC | IEA | GO:0016328 | lateral plasma membrane |
| CC | IBA | GO:0016342 | catenin complex |
| CC | IDA | GO:0016342 | catenin complex |
| CC | IEA | GO:0030018 | Z disc |
| CC | ISS | GO:0030056 | hemidesmosome |
| CC | IDA | GO:0030057 | desmosome |
| CC | IDA | GO:0032993 | protein-DNA complex |
| CC | TAS | GO:0035580 | specific granule lumen |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | IDA | GO:0071665 | gamma-catenin-TCF7L2 complex |
| CC | TAS | GO:1904813 | ficolin-1-rich granule lumen |
| BP | IGI | GO:0001954 | positive regulation of cell-matrix adhesion |
| BP | IDA | GO:0002159 | desmosome assembly |
| BP | IMP | GO:0002159 | desmosome assembly |
| BP | NAS | GO:0007016 | cytoskeletal anchoring at plasma membrane |
| BP | IMP | GO:0016477 | cell migration |
| BP | TAS | GO:0031424 | keratinization |
| BP | TAS | GO:0034332 | adherens junction organization |
| BP | IDA | GO:0042127 | regulation of cell proliferation |
| BP | IDA | GO:0042307 | positive regulation of protein import into nucleus |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | IGI | GO:0043537 | negative regulation of blood vessel endothelial cell migration |
| BP | IGI | GO:0045766 | positive regulation of angiogenesis |
| BP | IBA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IDA | GO:0050982 | detection of mechanical stimulus |
| BP | IDA | GO:0051091 | positive regulation of DNA-binding transcription factor activity |
| BP | IEA | GO:0051291 | protein heterooligomerization |
| BP | TAS | GO:0070268 | cornification |
| BP | ISS | GO:0071603 | endothelial cell-cell adhesion |
| BP | IDA | GO:0071681 | cellular response to indole-3-methanol |
| BP | IMP | GO:0072659 | protein localization to plasma membrane |
| BP | IMP | GO:0086073 | bundle of His cell-Purkinje myocyte adhesion involved in cell communication |
| BP | IMP | GO:0086091 | regulation of heart rate by cardiac conduction |
| BP | IC | GO:0090263 | positive regulation of canonical Wnt signaling pathway |
| BP | IDA | GO:0098609 | cell-cell adhesion |
| BP | IMP | GO:0098609 | cell-cell adhesion |
| BP | IMP | GO:0098911 | regulation of ventricular cardiac muscle cell action potential |
| BP | IEA | GO:1903508 | positive regulation of nucleic acid-templated transcription |
Gene expression in normal tissue: JUP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in JUP
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pharmgkb | PA2033 | Antiarrhythmic Pathway, Pharmacodynamics |
| pid | ajdiss_2pathway | Posttranslational regulation of adherens junction stability and dissassembly |
| pid | ecadherin_keratinocyte_pathway | E-cadherin signaling in keratinocytes |
| pid | ecadherin_nascentaj_pathway | E-cadherin signaling in the nascent adherens junction |
| pid | ncadherinpathway | N-cadherin signaling events |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| kegg | hsa05221 | Acute myeloid leukemia - Homo sapiens (human) |
| kegg | hsa05226 | Gastric cancer - Homo sapiens (human) |
| kegg | hsa05412 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) - Homo sapiens (human) |
| netpath | Pathway_EGFR1 | EGFR1 |
| netpath | Pathway_Wnt | Wnt |
| wikipathways | WP2118 | Arrhythmogenic Right Ventricular Cardiomyopathy |
| wikipathways | WP2355 | Corticotropin-releasing hormone signaling pathway |
| wikipathways | WP2858 | Ectoderm Differentiation |
| wikipathways | WP4239 | EMT transition in Colorectal Cancer |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1500931 | Cell-Cell communication |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-194138 | Signaling by VEGF |
| reactome | R-HSA-418990 | Adherens junctions interactions |
| reactome | R-HSA-421270 | Cell-cell junction organization |
| reactome | R-HSA-4420097 | VEGFA-VEGFR2 Pathway |
| reactome | R-HSA-446728 | Cell junction organization |
| reactome | R-HSA-5218920 | VEGFR2 mediated vascular permeability |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-6805567 | Keratinization |
| reactome | R-HSA-6809371 | Formation of the cornified envelope |
| reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in JUP
CLASSFICATION
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