InnateDB Protein
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IDBP-49786.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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JUP
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Protein Name
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junction plakoglobin
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Synonyms
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ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000311113
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InnateDB Gene
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IDBG-49784 (JUP)
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Protein Structure
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Function |
Common junctional plaque protein. The membrane- associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE- cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity). {ECO:0000250}.
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Subcellular Localization |
Cell junction, adherens junction {ECO:0000269PubMed:22781308}. Cell junction, desmosome {ECO:0000269PubMed:22781308}. Cytoplasm, cytoskeleton {ECO:0000269PubMed:22781308}. Membrane {ECO:0000269PubMed:22781308}; Peripheral membrane protein {ECO:0000269PubMed:22781308}. Note=Cytoplasmic in a soluble and membrane-associated form.
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Disease Associations |
Naxos disease (NXD) [MIM:601214]: An autosomal recessive disorder characterized by the association of diffuse non- epidermolytic palmoplantar keratoderma with woolly hair and cardiac abnormalities such as dilated cardiomyopathy and arrhythmogenic right ventricular dysplasia. {ECO:0000269PubMed:10902626}. Note=The disease is caused by mutations affecting the gene represented in this entry.Arrhythmogenic right ventricular dysplasia, familial, 12 (ARVD12) [MIM:611528]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269PubMed:17924338, ECO:0000269PubMed:20031617}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
128
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
11 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000225
Armadillo
IPR013284
Beta-catenin
IPR016024
Armadillo-type fold
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PFAM |
PF00514
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PRINTS |
PR01869
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PIRSF |
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SMART |
SM00185
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TIGRFAMs |
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Modification |
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SwissProt |
P14923
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PhosphoSite |
PhosphoSite-P14923
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TrEMBL |
Q7KZ86
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UniProt Splice Variant |
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Entrez Gene |
3728
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UniGene |
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RefSeq |
NP_068831
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HUGO |
HGNC:6207
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OMIM |
173325
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CCDS |
CCDS11407
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HPRD |
01414
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IMGT |
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EMBL |
AC109319
AC130686
AF233882
AF306723
AJ249711
AY243535
BC000441
BC011865
CH471152
D50808
M23410
Z68228
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GenPept |
AAA64895
AAG16727
AAH00441
AAH11865
AAO85780
BAA09435
CAA92522
CAC04246
EAW60762
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