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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]
JUP (Junction Plakoglobin) is a Protein Coding gene. Diseases associated with JUP include Naxos Disease and Arrhythmogenic Right Ventricular Dysplasia, Familial, 12. Among its related pathways are Transcriptional misregulation in cancer and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase binding. An important paralog of this gene is CTNNB1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003713 | transcription coactivator activity | IDA | 14661054 |
GO:0005198 | structural molecule activity | IEA,NAS | 22889254 |
GO:0005515 | protein binding | IEA,IPI | 7650039 |
GO:0019901 | protein kinase binding | IEA | -- |
GO:0019903 | protein phosphatase binding | IBA,IPI | 8663237 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001533 | cornified envelope | TAS | -- |
GO:0005576 | extracellular region | TAS | -- |
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IMP | 14661054 |
GO:0005737 | cytoplasm | IEA,IMP | 14661054 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell junction organization | ||
2 | Innate Immune System |
.61
|
|
3 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) | ||
4 | Sertoli-Sertoli Cell Junction Dynamics |
Germ Cell-Sertoli Cell Junction Dynamics
.38
|
Sertoli-Sertoli Cell Junction Dynamics
.38
|
5 | Keratinization |
.33
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001954 | positive regulation of cell-matrix adhesion | IGI | 28115160 |
GO:0002159 | desmosome assembly | IEA,IMP | 20859650 |
GO:0007016 | cytoskeletal anchoring at plasma membrane | NAS | -- |
GO:0007155 | cell adhesion | IEA | -- |
GO:0016477 | cell migration | IMP | 18937352 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | · | 2f | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | - | - |
ExUns: | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||
SP2: | |||||||||||||||||
SP3: | |||||||||||||||||
SP4: | |||||||||||||||||
SP5: | |||||||||||||||||
SP6: | |||||||||||||||||
SP7: | |||||||||||||||||
SP8: | |||||||||||||||||
SP9: | |||||||||||||||||
SP10: | |||||||||||||||||
SP11: | |||||||||||||||||
SP12: | |||||||||||||||||
SP13: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | JUP 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | JUP 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | JUP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | JUP 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Jup 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Jup 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | JUP 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | JUP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | jup 30 |
|
||
MGC75867 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2844 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100330886 30 |
|
||
jupb 31 |
|
OneToMany | |||
jupa 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9217 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | arm 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | hmp-2 31 32 |
|
OneToMany | |
bar-1 31 32 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636540 | Uncertain Significance: not provided | 41,769,104(-) | C/G | MISSENSE_VARIANT | |
640516 | Uncertain Significance: Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 | 41,769,483(-) | C/G | MISSENSE_VARIANT | |
641014 | Likely Pathogenic: Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 | 41,757,633(-) | C/T | SPLICE_DONOR_VARIANT | |
641938 | Pathogenic: Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 | 41,757,750(-) | AC/A | FRAMESHIFT_VARIANT | |
643312 | Uncertain Significance: Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 | 41,769,024(-) | C/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3174n100 | CNV | gain | 25217958 |
nsv1060502 | CNV | gain | 25217958 |
nsv1146669 | OTHER | inversion | 26484159 |
nsv575041 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
naxos disease |
|
|
arrhythmogenic right ventricular dysplasia, familial, 12 |
|
|
epidermolysis bullosa, lethal acantholytic |
|
|
familial isolated arrhythmogenic ventricular dysplasia, right dominant form |
|
|
familial isolated arrhythmogenic ventricular dysplasia, biventricular form |
|
|