We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

JUP junction plakoglobin [ Homo sapiens (human) ]

Gene ID: 3728, updated on 15-Jun-2013

Summary

Go to the top of the page Help

Official Symbol: JUPprovided by HGNC
Official Full Name: junction plakoglobinprovided by HGNC
Primary source: HGNC:6207
See related: Ensembl:ENSG00000173801; HPRD:01414; MIM:173325; Vega:OTTHUMG00000133494
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: DP3; PDGB; PKGB; CTNNG; DPIII; ARVD12
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]

Genomic context

Go to the top of the page Help

Location :: 17q21

Sequence :: Chromosome: 17; NC_000017.10 (39910859..39942964, complement)

See JUP in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Data indicate that plakoglobin and isoforms were present in atherosclerotic plaques and their secretomes.
Title: Antibody phage display assisted identification of junction plakoglobin as a potential biomarker for atherosclerosis.
Overexpression of gamma-catenin is associated with stabilization and nuclear localization of beta-catenin resulting in acute myeloid leukemia.
Title: γ-Catenin is overexpressed in acute myeloid leukemia and promotes the stabilization and nuclear localization of β-catenin.
Data show that E-cadherin and alpha-catenin were predominantly expressed in the cell membranes, whereas beta- and gamma-catenin were found both in the cell membrane and cytoplasm.
Title: Altered expression of cell adhesion molecules leads to differential uptake of hypericin in urothelial cancer.
The presence of beta and gamma catenin, particularly in osteoblasts, demonstrates a significant role of catenins in functions such as signaling and activation of transcription factors during differentiation of bone tissues
Title: Expression of β-catenin and γ-catenin in maxillary bone regeneration.
PG may inhibit Src by keeping VN low. Our results suggest that loss of intercellular adhesion due to reduced PG expression might be exacerbated by activation of Src through a PG-dependent mechanism
Title: The desmosomal armadillo protein plakoglobin regulates prostate cancer cell adhesion and motility through vitronectin-dependent Src signaling.
Rnd3 regulates desmosome function and keratinocyte cell death via a plakoglobin-dependent mechanism.
Title: Plakoglobin-dependent regulation of keratinocyte apoptosis by Rnd3.
Gastroesophageal reflux disease was specifically associated with elevated transcript levels of desmoglein 2 and plakoglobin
Title: Assessment of desmosomal components (desmoglein 1-3, plakoglobin) in cardia mucosa in relation to gastroesophageal reflux disease and Helicobacter pylori infection.
This study thus implicates SLUG-induced repression of plakoglobin as a motility determinant in highly disseminating breast cancer.
Title: High motility of triple-negative breast cancer cells is due to repression of plakoglobin gene by metastasis modulator protein SLUG.
Induced gene expression levels of plakoglobin, desmoglein-1 and desmoglein-2 correlated significantly with dilatation of intercellular spaces and basal cell hyperplasia in esophageal mucosa of patients with gastro-oesophageal reflux disease.
Title: Gastro-oesophageal reflux disease is associated with up-regulation of desmosomal components in oesophageal mucosa.
Lack of plakoglobin in epidermis leads to keratoderma.
Title: Lack of plakoglobin in epidermis leads to keratoderma.

Submit: New GeneRIF Correction See all (49)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Arrhythmogenic right ventricular cardiomyopathy, type 12

MIM: 611528

Genetic Testing Registry

Summary from GeneReviews: Arrhythmogenic Right Ventricular Dysplasia / Cardiomyopathy, Autosomal Dominant

Autosomal dominant arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle; with time, it may also involve the left ventricle. The presentation of disease is highly variable even within families, and affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (+/-13; range: 4-64 years).

Diagnosis Testing

The diagnosis of autosomal dominant ARVD/C is made using a combination of noninvasive and invasive tests to detect abnormalities in cardiac structure and rhythm. The eight genes known to be associated with autosomal dominant ARVD/C are: TGFB3 (locus name: ARVD1; protein: transforming growth factor beta-3), RYR2 (locus name ARVD2; protein: ryanodine receptor 2), TMEM43 (locus name ARVD5; protein: transmembrane protein 43), DSP (locus name ARVD8; protein: desmoplakin), PKP2 (locus name ARVD9; protein: plakophilin-2), DSG2 (locus name: ARVD10; protein: desmoglein-2), DSC2 (locus name: ARVD11; protein: desmocollin-2), and JUP (locus name: ARVD12; protein: junction plakoglobin). Four additional genes associated with autosomal dominant ARVD/C have been mapped but not identified (locus names ARVD3, ARVD4, ARVD6, and ARVD7). Additional loci remain undetermined.

Genetic Counseling

Autosomal dominant ARVD/C is inherited in an autosomal dominant manner. A proband with autosomal dominant ARVD/C may have the disorder as a result of a new gene mutation. The proportion of cases caused by de novo mutations is unknown. Each child of an individual with autosomal dominant ARVD/C has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation has been identified in the family. Such testing may be available through laboratories that offer either testing for the gene of interest or custom testing.

References

PMID: 20301310

Naxos disease

MIM: 601214

Genetic Testing Registry

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Source	Pubs	Description
P14923	P25054	APC	HPRD	PubMed
P14923	P52565	ARHGDIA	HPRD	PubMed
P14923	O15169	AXIN1	HPRD	PubMed
P14923	Q13489	BIRC3	HPRD	PubMed
P14923	Q9Y297	BTRC	HPRD	PubMed
P14923	P12830	CDH1	HPRD	PubMed
P14923	P55291	CDH15	HPRD	PubMed
P14923	P19022	CDH2	HPRD	PubMed
P14923	P33151	CDH5	HPRD	PubMed
P14923	P35221	CTNNA1	HPRD	PubMed
P14923	Q9NSA3	CTNNBIP1	HPRD	PubMed
P14923	O60716	CTNND1	HPRD	PubMed
P14923	Q08554	DSC1	HPRD	PubMed
P14923	Q02487	DSC2	HPRD	PubMed
P14923	Q14574	DSC3	HPRD	PubMed
P14923	Q02413	DSG1	HPRD	PubMed
P14923	Q14126	DSG2	HPRD	PubMed
P14923	P32926	DSG3	HPRD	PubMed
P14923	P15924	DSP	HPRD	PubMed
P14923	P04626	ERBB2	HPRD	PubMed
P14923	P16591	FER	HPRD	PubMed
P14923	P06241	FYN	HPRD	PubMed
P14923	P15941	MUC1	HPRD	PubMed
P14923	O00221	NFKBIE	HPRD	PubMed
P14923	P16284	PECAM1	HPRD	PubMed
P14923	P98161	PKD1	HPRD	PubMed
P14923	Q99959	PKP2	HPRD	PubMed
P14923	P49768	PSEN1	HPRD	PubMed
P14923	Q15678	PTPN14	HPRD	PubMed
P14923	P10586	PTPRF	HPRD	PubMed
P14923	Q12913	PTPRJ	HPRD	PubMed
P14923	Q15262	PTPRK	HPRD	PubMed
P14923	Q9H4K1	RIBC2	HPRD	PubMed
P14923	P12931	SRC	HPRD	PubMed
P14923	P15884	TCF4	HPRD	PubMed
P14923	Q9NQB0	TCF7L2	HPRD	PubMed
P14923	Q96HA8	WDYHV1	HPRD	PubMed
P14923	O95405	ZFYVE9	HPRD	PubMed
BioGRID:109931	BioGRID:107647	ABCC2	BioGRID	PubMed	Co-fractionation
BioGRID:109931	BioGRID:106821	APC	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:109931	BioGRID:106889	ARHGDIA	BioGRID	PubMed	Two-hybrid
BioGRID:109931	BioGRID:107009	ATP6V1B2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:108950	B4GALT1	BioGRID	PubMed	Co-fractionation
BioGRID:109931	BioGRID:106826	BIRC2	BioGRID	PubMed	Two-hybrid
BioGRID:109931	BioGRID:107140	BRCA1	BioGRID	PubMed	Two-hybrid
BioGRID:109931	BioGRID:114457	BTRC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109931	BioGRID:107169	C1QBP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:123536	CCDC130	BioGRID	PubMed	Two-hybrid
BioGRID:109931	BioGRID:107434	CDH1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109931	BioGRID:107435	CDH2	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Co-fractionation
BioGRID:109931	BioGRID:107436	CDH3	BioGRID	PubMed	Affinity Capture-Western; Co-purification
BioGRID:109931	BioGRID:107438	CDH5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109931	BioGRID:107452	CDK2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:116183	COPS5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:113583	CSDE1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:107876	CTNNA1	BioGRID	PubMed	Affinity Capture-Western; Co-fractionation; Reconstituted Complex; Two-hybrid
BioGRID:109931	BioGRID:107880	CTNNB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109931	BioGRID:121313	CTNNBIP1	BioGRID	PubMed	Affinity Capture-MS; Two-hybrid
BioGRID:109931	BioGRID:114031	CUL2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:114028	CUL4B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:198631	Cdh1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109931	BioGRID:107995	DBN1	BioGRID	PubMed	Co-fractionation
BioGRID:109931	BioGRID:108038	DES	BioGRID	PubMed	Co-fractionation
BioGRID:109931	BioGRID:108143	DPYSL3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:108157	DSC1	BioGRID	PubMed	Two-hybrid
BioGRID:109931	BioGRID:108158	DSC2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109931	BioGRID:108159	DSC3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109931	BioGRID:108162	DSG1	BioGRID	PubMed	Reconstituted Complex
BioGRID:109931	BioGRID:108163	DSG2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109931	BioGRID:108164	DSG3	BioGRID	PubMed	Affinity Capture-Western
	NP_004406.1	DSP	BIND	PubMed	Plakoglobin interacts with desmoplakin.
BioGRID:109931	BioGRID:108166	DSP	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:109931	BioGRID:199318	Dsc1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109931	BioGRID:199323	Dsg1a	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109931	BioGRID:108276	EGFR	BioGRID	PubMed	Reconstituted Complex
BioGRID:109931	BioGRID:108376	ERBB2	BioGRID	PubMed	Far Western
BioGRID:109931	BioGRID:108403	ESR1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:116802	GANAB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:108971	GJB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109931	BioGRID:118966	GMPPB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:109127	GRK5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:109540	HSPA4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:120824	IARS2	BioGRID	PubMed	Co-fractionation
BioGRID:109931	BioGRID:109821	ILF2	BioGRID	PubMed	Co-fractionation
BioGRID:109931	BioGRID:109822	ILF3	BioGRID	PubMed	Co-fractionation
BioGRID:109931	BioGRID:119325	INSIG2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:109897	ITGB4	BioGRID	PubMed	Co-fractionation
BioGRID:109931	BioGRID:115114	KIAA0101	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:110156	LGALS9	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:110573	MSH2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:110669	MUC1	BioGRID	PubMed	Affinity Capture-Western; Co-localization
BioGRID:109931	BioGRID:110758	NARS	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:118976	NENF	BioGRID	PubMed	Co-fractionation
BioGRID:109931	BioGRID:110849	NFATC4	BioGRID	PubMed	Two-hybrid
BioGRID:109931	BioGRID:110861	NFKBIE	BioGRID	PubMed	Two-hybrid
BioGRID:109931	BioGRID:115252	PAN2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:111165	PDE3A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:111201	PECAM1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109931	BioGRID:116459	PHB2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:111335	PKP2	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
	NP_009114.1	PKP3	BIND	PubMed	PKP3 interacts with JUP(Pg)
BioGRID:109931	BioGRID:116357	PKP3	BioGRID	PubMed	Two-hybrid
BioGRID:109931	BioGRID:111355	PLEC	BioGRID	PubMed	Co-fractionation
BioGRID:109931	BioGRID:111367	PLOD2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:111748	PTPN14	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:111756	PTPRF	BioGRID	PubMed	Reconstituted Complex
BioGRID:109931	BioGRID:111760	PTPRK	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109931	BioGRID:119659	PTRH2	BioGRID	PubMed	Co-fractionation
BioGRID:109931	BioGRID:119719	RAB8B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109931	BioGRID:117581	RIBC2	BioGRID	PubMed	Two-hybrid
BioGRID:109931	BioGRID:112064	RPL21	BioGRID	PubMed	Co-fractionation
BioGRID:109931	BioGRID:117436	SAMHD1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:115028	SLC25A44	BioGRID	PubMed	Co-fractionation
BioGRID:109931	BioGRID:112644	ST13	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:112795	TCF7L2	BioGRID	PubMed	Reconstituted Complex
BioGRID:109931	BioGRID:120760	TRMT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:115791	UBD	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:113241	USP1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:120405	WDYHV1	BioGRID	PubMed	Two-hybrid
BioGRID:109931	BioGRID:113353	XRCC5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:108822	XRCC6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109931	BioGRID:114773	ZFYVE9	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

Go to the top of the page Help

Acute myeloid leukemia, organism-specific biosystem (from KEGG)
Acute myeloid leukemia, organism-specific biosystemAcute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation...
Acute myeloid leukemia, conserved biosystem (from KEGG)
Acute myeloid leukemia, conserved biosystemAcute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation...
Adherens junctions interactions, organism-specific biosystem (from REACTOME)
Adherens junctions interactions, organism-specific biosystemThe adherens junctions (AJ) are multiprotein complexes that promote homotypic cell adhesion in nearly all types of tissue by linking membrane and cytoskeletal components at discrete contact regions (...
Arf6 trafficking events, organism-specific biosystem (from Pathway Interaction Database)
Arf6 trafficking events, organism-specific biosystem
Arf6 trafficking events
Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
Cell junction organization, organism-specific biosystem (from REACTOME)
Cell junction organization, organism-specific biosystem
Cell junction organization
Cell-Cell communication, organism-specific biosystem (from REACTOME)
Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
Cell-cell junction organization, organism-specific biosystem (from REACTOME)
Cell-cell junction organization, organism-specific biosystemEpithelial cell-cell contacts consist of three major adhesion systems: adherens junctions (AJs), tight junctions (TJs), and desmosomes. These adhesion systems differ in their function and compositio...
E-cadherin signaling in the nascent adherens junction, organism-specific biosystem (from Pathway Interaction Database)
E-cadherin signaling in the nascent adherens junction, organism-specific biosystem
E-cadherin signaling in the nascent adherens junction
Pathways in cancer, organism-specific biosystem (from KEGG)
Pathways in cancer, organism-specific biosystem
Pathways in cancer
Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
Transcriptional misregulation in cancer, organism-specific biosystem
Transcriptional misregulation in cancer
Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
Transcriptional misregulation in cancer, conserved biosystem
Transcriptional misregulation in cancer
Wnt Signaling Pathway NetPath, organism-specific biosystem (from WikiPathways)
Wnt Signaling Pathway NetPath, organism-specific biosystemWnt family of proteins are a large family of cysteine-rich secreted glycoproteins that regulate cell-cell interactions. They bind to members of the Frizzled family of 7 transmembrane receptors. Bindi...

General gene information

Go to the top of the page Help

Markers

Jup (e-PCR), detects polymorphism
- UniSTS:143648

RH17679 (e-PCR)
- UniSTS:54645

G07167 (e-PCR)
- UniSTS:55163

JUP (e-PCR)
- UniSTS:44727

SHGC-30259 (e-PCR)
- UniSTS:80066

Genotypes

See JUP SNP Geneview Report
See JUP SNP Genotype Report
See JUP SNP Variation Viewer Report

Homology

Homologs of the JUP gene: The JUP gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
alpha-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
cadherin binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
protein phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed
structural constituent of cell wall	IC Inferred by Curator more info	PubMed
structural molecule activity	IBA Inferred from Biological aspect of Ancestor more info
structural molecule activity	NAS Non-traceable Author Statement more info
transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
adherens junction organization	TAS Traceable Author Statement more info
atrioventricular valve morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
bundle of His cell to Purkinje myocyte communication	IMP Inferred from Mutant Phenotype more info	PubMed
cell junction assembly	TAS Traceable Author Statement more info
cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
cell morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
cell-cell junction organization	TAS Traceable Author Statement more info
cellular response to indole-3-methanol	IDA Inferred from Direct Assay more info	PubMed
cytoskeletal anchoring at plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
cytoskeletal anchoring at plasma membrane	NAS Non-traceable Author Statement more info
desmosome assembly	IDA Inferred from Direct Assay more info
detection of mechanical stimulus	IDA Inferred from Direct Assay more info	PubMed
ectoderm development	IBA Inferred from Biological aspect of Ancestor more info
endothelial cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
gastrulation	IBA Inferred from Biological aspect of Ancestor more info
morphogenesis of embryonic epithelium	IBA Inferred from Biological aspect of Ancestor more info
negative regulation of Wnt receptor signaling pathway involved in heart development	IBA Inferred from Biological aspect of Ancestor more info
negative regulation of heart induction by canonical Wnt receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
NOT negative regulation of transcription from RNA polymerase II promoter	IKR Inferred from Key Residues more info
nervous system development	IBA Inferred from Biological aspect of Ancestor more info
oocyte development	IBA Inferred from Biological aspect of Ancestor more info
positive regulation of canonical Wnt receptor signaling pathway	IC Inferred by Curator more info	PubMed
positive regulation of protein import into nucleus	IDA Inferred from Direct Assay more info	PubMed
positive regulation of sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
protein heterooligomerization	IEA Inferred from Electronic Annotation more info
regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
regulation of heart rate by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of ventricular cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
skin development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
Z disc	IBA Inferred from Biological aspect of Ancestor more info
actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
apicolateral plasma membrane	IEA Inferred from Electronic Annotation more info
basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
catenin complex	IDA Inferred from Direct Assay more info	PubMed
cell-cell adherens junction	IDA Inferred from Direct Assay more info	PubMed
cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
cytosol	ISS Inferred from Sequence or Structural Similarity more info
desmosome	IDA Inferred from Direct Assay more info	PubMed
fascia adherens	IBA Inferred from Biological aspect of Ancestor more info
gamma-catenin-TCF7L2 complex	IDA Inferred from Direct Assay more info	PubMed
NOT hemidesmosome	ISS Inferred from Sequence or Structural Similarity more info
intercalated disc	IDA Inferred from Direct Assay more info
intermediate filament	IEA Inferred from Electronic Annotation more info
internal side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
internal side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
lateral plasma membrane	IEA Inferred from Electronic Annotation more info
nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
protein-DNA complex	IDA Inferred from Direct Assay more info	PubMed
NOT transcription factor complex	IKR Inferred from Key Residues more info
zonula adherens	IBA Inferred from Biological aspect of Ancestor more info
zonula adherens	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Go to the top of the page Help

Preferred Names: junction plakoglobin

Names: junction plakoglobin; desmoplakin-3; desmoplakin III; catenin (cadherin-associated protein), gamma 80kDa

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_009090.2 RefSeqGene

Range

5001..37106

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002230.2 → NP_002221.1 junction plakoglobin

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC109319

Consensus CDS

CCDS11407.1

UniProtKB/Swiss-Prot

P14923

Related

ENSP00000377508, OTTHUMP00000164738, ENST00000393931, OTTHUMT00000257406

Conserved Domains (2) summary

cd00020
Location:220 – 339
Blast Score: 165

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

cd00256
Location:73 – 242
Blast Score: 89

VATPase_H; VATPase_H, regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The ...
NM_021991.2 → NP_068831.1 junction plakoglobin

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate segment in the 3' UTR, compared to transcript variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC109319

Consensus CDS

CCDS11407.1

UniProtKB/Swiss-Prot

P14923

Related

ENSP00000311113, OTTHUMP00000164732, ENST00000310706, OTTHUMT00000257399

Conserved Domains (2) summary

cd00020
Location:220 – 339
Blast Score: 165

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

cd00256
Location:73 – 242
Blast Score: 89

VATPase_H; VATPase_H, regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 PATCHES

Genomic

NW_003571052.1 Reference GRCh37.p10 PATCHES

Range

41249..73354, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p10 Primary Assembly

Range

39910859..39942964, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

35672969..35704921, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018928.1 Alternate CHM1_1.0

Range

40699668..40731777, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01006451.1 (17648..20698)	None
genomic	ABBA01006452.1	None
genomic	AC109319.17 (49571..81676)	None
genomic	AF233882.1	AAG16727.1
genomic	AF306723.1	AAG16727.1
genomic	AJ249711.1	CAC04246.1
genomic	AMYH01008387.1 (480131..512240)	None
genomic	CH471152.1	EAW60762.1
		EAW60763.1
		EAW60764.1
		EAW60765.1
genomic	CS673474.1	CAP07504.1
genomic	CS690857.1	CAP11472.1
genomic	D50808.1	BAA09435.1
genomic	FB665610.1	CAR97086.1
genomic	GM706822.1	CAT82323.1
mRNA	AK226051.1	None
mRNA	AY243535.1	AAO85780.1
mRNA	BC000441.2	AAH00441.2
mRNA	BC011865.2	AAH11865.1
mRNA	M23410.1	AAA64895.1
mRNA	Z68228.1	CAA92522.1
other-genetic	DQ891420.2	ABM82346.1
other-genetic	DQ894594.2	ABM85520.1