Gene

jupa

ID
ZDB-GENE-991207-22
Name
junction plakoglobin a
Symbol
jupa Nomenclature History
Previous Names
  • jup
  • cb80 (1)
  • danPG
  • fb11b06
  • gamma-catenin (1)
  • plakoglobin (1)
  • wu:fb11b06 (1)
Type
protein_coding_gene
Location
Chr: 11 Mapping Details/Browsers
Description
Predicted to enable several functions, including alpha-catenin binding activity; cadherin binding activity; and transcription coactivator activity. Involved in Kupffer's vesicle development; adherens junction maintenance; and desmosome maintenance. Acts upstream of or within atrioventricular valve morphogenesis and negative regulation of Wnt signaling pathway. Located in several cellular components, including adherens junction; desmosome; and intercalated disc. Part of catenin complex. Is expressed in several structures, including EVL; ectoderm; forerunner cell group; sensory system; and solid lens vesicle. 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).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
18 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
8 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
ct520aGtTransgenic insertionUnknownUnknownDNA
ihb860Allele with one deletionExon 9UnknownCRISPR
ihb861Allele with one delinsUnknownUnknownnot specified
la011634TgTransgenic insertionUnknownUnknownDNA
sa12692Allele with one point mutationUnknownSplice SiteENU
sa12961Allele with one point mutationUnknownSplice SiteENU
sa14171Allele with one point mutationUnknownSplice SiteENU
sa31818Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
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Human Disease
Associated With jupa Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
arrhythmogenic right ventricular dysplasia 12 Alliance ?Arrhythmogenic right ventricular dysplasia 12 611528
Naxos disease Alliance Naxos disease 601214
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Associated With jupa Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR013284 Beta-catenin
Homologous_superfamily IPR011989 Armadillo-like helical
Homologous_superfamily IPR016024 Armadillo-type fold
Repeat IPR000225 Armadillo
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Domain Details Per Protein
Protein Additional Resources Length Armadillo Armadillo-like helical Armadillo-type fold Beta-catenin
UniProtKB:Q9PVF7 InterPro 729
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 11
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA jupa-201 (1) Ensembl 3,272 nt
mRNA jupa-202 (1) Ensembl 3,830 nt
mRNA jupa-204 (1) Ensembl 6,556 nt
ncRNA jupa-002 (1) Ensembl 771 nt
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Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-jup monoclonal IgG2a Mouse
  • IHC
  • WB
BD Biosciences
6
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Plasmids
No data available
Constructs
Construct Regulatory Region Coding Sequence Species Tg Lines Citations
Tg(her4.1:jupa-EGFP)
  • Danio rerio
1 (2)
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Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-8O15ZFIN Curated Data
EncodesESTcb80Thisse et al., 2001
EncodesESTfb11b06ZFIN Curated Data
EncodescDNAMGC:55216ZFIN Curated Data
EncodescDNAMGC:65740ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanJUP17
Conserved genome location (synteny) (1)
Amino acid sequence comparison (2)
Other (1)
MouseJup11
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
Citations
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