Jup junction plakoglobin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Jupprovided by MGI
Official Full Name: junction plakoglobinprovided by MGI
Primary source: MGI:MGI:96650
See related: Ensembl:ENSMUSG00000001552 AllianceGenome:MGI:96650
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PG; Ctnng; D930025P04Rik
Summary: Enables alpha-catenin binding activity. Acts upstream of or within cell-cell adhesion; desmosome assembly; and skin development. Located in several cellular components, including Z disc; adherens junction; and intermediate filament. Part of catenin complex. Is expressed in several structures, including alimentary system; musculature; nervous system; reproductive system; and sensory organ. Used to study arrhythmogenic right ventricular dysplasia 12 and epidermolytic hyperkeratosis. Human ortholog(s) of this gene implicated in cardiomyopathy (multiple); palmoplantar keratosis (multiple); renal cell carcinoma; and reproductive organ cancer (multiple). Orthologous to human JUP (junction plakoglobin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in lung adult (RPKM 160.5), stomach adult (RPKM 151.6) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 63.47 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (100259682..100288639, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (100368856..100397839, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CYLD deubiquitinates plakoglobin to promote Cx43 membrane targeting and gap junction assembly in the heart.
Title: CYLD deubiquitinates plakoglobin to promote Cx43 membrane targeting and gap junction assembly in the heart.
Premature Termination Codon in 5' Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation.
Title: Premature Termination Codon in 5' Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation.
beta-catenin and gamma-catenin are dispensable for T lymphocytes and AML leukemic stem cells.
Title: β-catenin and γ-catenin are dispensable for T lymphocytes and AML leukemic stem cells.
FLG and DST support melanoma cell growth in vitro and in vivo. Growth effects of JUP were only evident in vivo, and may be mediated, in part, by enhancing angiogenesis. In addition, growth-promoting effects of FLG and DST in vitro suggest that these genes may also support melanoma cell proliferation through angiogenesis-independent pathways.
Title: The Barrier Molecules Junction Plakoglobin, Filaggrin, and Dystonin Play Roles in Melanoma Growth and Angiogenesis.
gamma-catenin signaling is involved in the initiation and maintenance of BCR-ABL1(+) B-cell acute lymphoblastic leukemia.
Title: γ-Catenin-Dependent Signals Maintain BCR-ABL1(+) B Cell Acute Lymphoblastic Leukemia.
essential to the maintenance of the structure of the corneal epithelium and its wound healing
Title: Lack of plakoglobin impairs integrity and wound healing in corneal epithelium in mice.
Reduced plakoglobin staining in intercalated discs of heart tissue from human arrhythmogenic right ventricular cardiomyopathy (ARVC) patients and in a murine ARVC model is caused by alterations in epitope accessibility and not by protein relocalization
Title: Loss of plakoglobin immunoreactivity in intercalated discs in arrhythmogenic right ventricular cardiomyopathy: protein mislocalization versus epitope masking.
Mice with hepatic loss of the desmosomal protein gamma-Catenin are prone to cholestatic injury and chemical carcinogenesis.
Title: Mice with Hepatic Loss of the Desmosomal Protein γ-Catenin Are Prone to Cholestatic Injury and Chemical Carcinogenesis.
EMMPRIN ensures proper actomyosin-driven maturation of competent endothelial junctions by forming a molecular complex with gamma-catenin (also known as junction plakoglobin) and Nm23 (also known as NME1), a nucleoside diphosphate kinase
Title: An EMMPRIN-γ-catenin-Nm23 complex drives ATP production and actomyosin contractility at endothelial junctions.
In 2 knockin mouse models, endogenous Jup was engineered to express the Naxos-associated form of plakoglobin. Insufficiency of the truncated Naxos plakoglobin, rather than gain of function, accounted for cardiac disease manifestations.
Title: Normalization of Naxos plakoglobin levels restores cardiac function in mice.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (10) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

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

AW545708 (e-PCR)
- UniSTS:180317

RH125427 (e-PCR)
- UniSTS:162249

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables alpha-catenin binding	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables alpha-catenin binding	ISO Inferred from Sequence Orthology more info
enables cadherin binding	IBA Inferred from Biological aspect of Ancestor more info
enables cadherin binding	ISO Inferred from Sequence Orthology more info
enables cell adhesion molecule binding	ISO Inferred from Sequence Orthology more info
enables cytoskeletal protein-membrane anchor activity	ISO Inferred from Sequence Orthology more info
enables nuclear receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein phosphatase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein phosphatase binding	ISO Inferred from Sequence Orthology more info
enables protein tyrosine kinase binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication	ISO Inferred from Sequence Orthology more info
involved_in canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in cell migration	ISO Inferred from Sequence Orthology more info
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in cellular response to indole-3-methanol	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within desmosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in desmosome assembly	ISO Inferred from Sequence Orthology more info
involved_in detection of mechanical stimulus	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of blood vessel endothelial cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell-matrix adhesion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein import into nucleus	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in regulation of heart rate by cardiac conduction	ISO Inferred from Sequence Orthology more info
involved_in regulation of ventricular cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skin development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with actin cytoskeleton	ISO Inferred from Sequence Orthology more info
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in adherens junction	ISO Inferred from Sequence Orthology more info
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in apicolateral plasma membrane	ISO Inferred from Sequence Orthology more info
part_of catenin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of catenin complex	IDA Inferred from Direct Assay more info	PubMed
part_of catenin complex	ISO Inferred from Sequence Orthology more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	ISO Inferred from Sequence Orthology more info
is_active_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in desmosome	IDA Inferred from Direct Assay more info	PubMed
located_in desmosome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in desmosome	ISO Inferred from Sequence Orthology more info
located_in fascia adherens	ISO Inferred from Sequence Orthology more info
part_of gamma-catenin-TCF7L2 complex	ISO Inferred from Sequence Orthology more info
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
located_in intermediate filament	IDA Inferred from Direct Assay more info	PubMed
located_in lateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-DNA complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: junction plakoglobin

Names: desmoplakin III; desmoplakin-3; gamma-catenin

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_010593.2 → NP_034723.1 junction plakoglobin

See identical proteins and their annotated locations for NP_034723.1

Status: VALIDATED

Source sequence(s)

AK145895, AL590968, CD555608

Consensus CDS

CCDS25420.1

UniProtKB/Swiss-Prot

Q02257, Q8CGD3

Related

ENSMUSP00000001592.9, ENSMUST00000001592.15

Conserved Domains (4) summary

smart00185
Location:341 → 381

ARM; Armadillo/beta-catenin-like repeats

PLN03200
Location:328 → 658

PLN03200; cellulose synthase-interactive protein; Provisional

sd00043
Location:393 → 418

ARM; armadillo repeat [structural motif]

pfam01602
Location:120 → 289

Adaptin_N; Adaptin N terminal region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

100259682..100288639 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030245605.2 → XP_030101465.1 junction plakoglobin isoform X1

UniProtKB/Swiss-Prot

Q02257, Q8CGD3

Conserved Domains (4) summary

smart00185
Location:341 → 381

ARM; Armadillo/beta-catenin-like repeats

PLN03200
Location:328 → 658

PLN03200; cellulose synthase-interactive protein; Provisional

sd00043
Location:393 → 418

ARM; armadillo repeat [structural motif]

pfam01602
Location:120 → 289

Adaptin_N; Adaptin N terminal region
XM_006532315.5 → XP_006532378.1 junction plakoglobin isoform X1

See identical proteins and their annotated locations for XP_006532378.1

UniProtKB/Swiss-Prot

Q02257, Q8CGD3

Related

ENSMUSP00000103026.2, ENSMUST00000107403.2

Conserved Domains (4) summary

smart00185
Location:341 → 381

ARM; Armadillo/beta-catenin-like repeats

PLN03200
Location:328 → 658

PLN03200; cellulose synthase-interactive protein; Provisional

sd00043
Location:393 → 418

ARM; armadillo repeat [structural motif]

pfam01602
Location:120 → 289

Adaptin_N; Adaptin N terminal region
XM_006532316.1 → XP_006532379.1 junction plakoglobin isoform X1

See identical proteins and their annotated locations for XP_006532379.1

UniProtKB/Swiss-Prot

Q02257, Q8CGD3

Conserved Domains (4) summary

smart00185
Location:341 → 381

ARM; Armadillo/beta-catenin-like repeats

PLN03200
Location:328 → 658

PLN03200; cellulose synthase-interactive protein; Provisional

sd00043
Location:393 → 418

ARM; armadillo repeat [structural motif]

pfam01602
Location:120 → 289

Adaptin_N; Adaptin N terminal region