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FLASH GENE

Symbol

JUP

contributors: mct - updated : 05-04-2016

HGNC name	junction plakoglobin
HGNC id	6207

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	32.11 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (CAAT box)
	Binding site   transcription factor
text structure	Sp1 and Ap2 binding site for transcription factor

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - D17S260 - THRA - KRT10 - [D17S800 - D17S846 -HSD17B1 - D17S855 - D17S858 - D17S78 - D17S579 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002230 14 - 3508 NP_002221 - 745 - 2001 11720882 NM_021991 15 - 3211 NP_068831 - 745 - 2001 11720882

EXPRESSION

Rna function	mRNAs were abundant in both dorsolateral prefrontal cortex and hippocampus, with a distinct neuronal localization^, without the distinct laminar patterns seen for CTNNA2 and CTNNB1 but distinctly localized in the granule cells of the dentate gyrus and pyramidal cells of Ammon horn
Type	ubiquitous

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       moderately Endocrine pancreas       highly Nervous brain limbic system hippocampus     Homo sapiens   brain forebrain cerebral cortex frontal cortex highly Homo sapiens Reproductive male system prostate     highly Respiratory respiratory tract larynx     highly Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal head domain including a potential coiled-coil forming alpha-helix segment
	13 imperfect armadillo repeats flanked by N- and C-terminus
	a C terminal tail domain

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to Drosophila Armadillo segment polarity gene

intraspecies

homolog to catenin beta 1

Homologene

FAMILY

beta catenin family

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	plasma membrane,junction,adherens
	plasma membrane,junction,desmosome
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus
text	component for both desmosomes and adherens junctions

basic FUNCTION	alpha cadherin and desmoglein, transducing wingless signals
	regulating cell adhesion
	signaling molecule with roles in desmosome assembly and development and in regulation of gene expression
	acting as a potent modulator of epithelial homeostasis via its role as a key suppressor of c-Myc
	also a structural constituent of desmosomes, where it binds to the cytoplasmic domains of the desmosomal cadherins, desmogleins and desmocollins
	required for correct maintenance of skin integrity, but have distinct roles in the epidermis and heart
	arterial intima-enriched (AIE) gene, with periplakin, SPRR3, envoplakin, galectin 7, and plakoglobin that are functionally related in that they contribute to the stress properties of stratified epithelium
	structural component of desmosomes, but also participates in the constitution of another cell–cell junction—the adherens junction

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	constituent of desmosomal plaque
	component of cell-cell adhesion complexes

INTERACTION

DNA

RNA

small molecule

protein	E cadherin
	interacts with the DPAGT1 promoter through a Wnt-dependent mechanism distinct from that of CTNNB1
	LEF1 acts as a switch activating DSC2 and repressing DSC3 in the presence of JUP
	SOX30 acts as a master switch of desmosomal genes (DSC3, DSP, JUP), inhibits lung adenocarcinoma cell proliferation, migration and invasion by activating the transcription of desmosomal genes

cell & other

REGULATION

Other

regulated by prolonged cyclic stress in vascular smooth muscle cells, which may have important implications to vascular disease

ASSOCIATED DISORDERS

corresponding disease(s)

ARVDPPK , ARVD12

related resource

Gene Connection for the Heart - Naxos disease database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       gain of function by somatic mutation in gastric tumors tumoral     --over   implicated in the promotion of genomic instability in cancer cells

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Jup mutant mice showed a biventricular cardiomyopathy with an early and severe hit on the RV, which seemingly contradicts the term ‘ARVC'