JUP (junction plakoglobin)

Gene

• Entrez ID: 3728
• Gene name: Junction plakoglobin
• Gene symbol: JUP
• Synonyms: CTNNG, DP3, DPIII, PDGB, PG, PKGB
• Chromosome: 17
• Chromosome location: 17q21.2
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113994176	CTG>-,CTGCTG	Pathogenic, uncertain-significance	Inframe insertion, coding sequence variant, inframe deletion
rs113994177	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs193922705	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign-likely-benign, benign	Intron variant
rs199826380	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs200740462	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs373761090	C>T	Likely-pathogenic	Splice donor variant
rs555499592	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs781900856	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs782058451	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs782392706	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs782440692	C>T	Pathogenic	Missense variant, coding sequence variant
rs782460555	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs782702266	C>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794729052	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs797046139	G>A	Pathogenic	Coding sequence variant, stop gained
rs886037753	C>A,T	Pathogenic	Coding sequence variant, synonymous variant
rs897549158	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1555606936	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597781765	C>T	Likely-pathogenic	Splice donor variant
rs1597782553	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597801392	GCTTCACG>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016884	hsa-miR-335-5p	Microarray	18185580
MIRT020514	hsa-miR-155-5p	Proteomics	18668040
MIRT022247	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT023549	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT028441	hsa-miR-30a-5p	Proteomics	18668040
MIRT039967	hsa-miR-615-3p	CLASH	23622248
MIRT047927	hsa-miR-30c-5p	CLASH	23622248

Transcription factors

Transcription factor	Regulation	Reference
DNMT3A	Unknown	17998942

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	TAS
GO:0001954	Process	Positive regulation of cell-matrix adhesion	IGI	28115160
GO:0002159	Process	Desmosome assembly	IDA	9049256
GO:0002159	Process	Desmosome assembly	IMP	20859650
GO:0003713	Function	Transcription coactivator activity	IBA	21873635
GO:0003713	Function	Transcription coactivator activity	IDA	14661054
GO:0005198	Function	Structural molecule activity	NAS	22889254
GO:0005515	Function	Protein binding	IPI	7650039, 7890674, 7983064, 10801826, 12370829, 14661054, 16189514, 16917092, 17098867, 17510365, 17924338, 19060904, 19136012, 20859650, 20936779, 24965446, 25241761, 25416956, 26496610, 26871637, 31515488, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IMP	14661054
GO:0005737	Component	Cytoplasm	IMP	14661054
GO:0005829	Component	Cytosol	ISS
GO:0005856	Component	Cytoskeleton	ISS
GO:0005882	Component	Intermediate filament	IEA
GO:0005886	Component	Plasma membrane	IDA	14661054, 20859650
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	1639850, 7650039, 7983064, 10460003, 14661054
GO:0005912	Component	Adherens junction	IBA	21873635
GO:0005912	Component	Adherens junction	IDA	10403777
GO:0005915	Component	Zonula adherens	ISS
GO:0005916	Component	Fascia adherens	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0009898	Component	Cytoplasmic side of plasma membrane	ISS
GO:0014704	Component	Intercalated disc	IDA	22781308, 22889254, 23381804
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0016327	Component	Apicolateral plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016342	Component	Catenin complex	IBA	21873635
GO:0016342	Component	Catenin complex	IDA	7650039
GO:0016477	Process	Cell migration	IMP	18937352
GO:0019901	Function	Protein kinase binding	IEA
GO:0019903	Function	Protein phosphatase binding	IBA	21873635
GO:0019903	Function	Protein phosphatase binding	IPI	8663237
GO:0030018	Component	Z disc	IEA
GO:0030056	Component	Hemidesmosome	ISS
GO:0030057	Component	Desmosome	IDA	1639850, 2726765
GO:0031424	Process	Keratinization	TAS
GO:0032993	Component	Protein-DNA complex	IDA	14661054
GO:0034332	Process	Adherens junction organization	TAS
GO:0035257	Function	Nuclear hormone receptor binding	IBA	21873635
GO:0035580	Component	Specific granule lumen	TAS
GO:0042127	Process	Regulation of cell population proliferation	IDA	17924338
GO:0042307	Process	Positive regulation of protein import into nucleus	IDA	10825188, 14661054
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0043537	Process	Negative regulation of blood vessel endothelial cell migration	IGI	28115160
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045294	Function	Alpha-catenin binding	IBA	21873635
GO:0045294	Function	Alpha-catenin binding	IPI	7650039, 7890674, 23136403
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045296	Function	Cadherin binding	IBA	21873635
GO:0045296	Function	Cadherin binding	IPI	1639850, 7650039
GO:0045766	Process	Positive regulation of angiogenesis	IGI	28115160
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0050839	Function	Cell adhesion molecule binding	IPI	17559062
GO:0050982	Process	Detection of mechanical stimulus	IDA	18937352
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IDA	14661054
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070268	Process	Cornification	TAS
GO:0071603	Process	Endothelial cell-cell adhesion	ISS
GO:0071665	Component	Gamma-catenin-TCF7L2 complex	IDA	14661054
GO:0071681	Process	Cellular response to indole-3-methanol	IDA	10868478
GO:0072659	Process	Protein localization to plasma membrane	IMP	20859650
GO:0086073	Process	Bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	17924338
GO:0086083	Function	Cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC	17924338
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	17924338
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IC	14661054
GO:0098609	Process	Cell-cell adhesion	IDA	18937352
GO:0098609	Process	Cell-cell adhesion	IMP	20859650
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	17924338
GO:0106006	Function	Cytoskeletal protein-membrane anchor activity	IDA	9049256
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 173325
• HGNC: 6207
• e!Ensembl: ENSG00000173801

Protein

• UniProt ID: P14923
• Protein name: Junction plakoglobin (Catenin gamma) (Desmoplakin III) (Desmoplakin-3)
• Protein function: Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity).
• PDB: 3IFQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00514	Arm	215 → 254	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	341 → 381	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	573 → 613	Armadillo/beta-catenin-like repeat	Repeat

• Sequence:

  MEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSSKGIMEEDEACGRQYTLKKTTT
  YTQGVPPSQGDLEYQMSTTARAKRVREAMCPGVSGEDSSLLLATQVEGQATNLQRLAEPS
  QLLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVTKAAMIVNQLSKKEASRRALM
  GSPQLVAAVVRTMQNTSDLDTARCTTSILHNLSHHREGLLAIFKSGGIPALVRMLSSPVE
  SVLFYAITTLHNLLLYQEGAKMAVRLADGLQKMVPLLNKNNPKFLAITTDCLQLLAYGNQ
  ESKLIILANGGPQALVQIMRNYSYEKLLWTTSRVLKVLSVCPSNKPAIVEAGGMQALGKH
  LTSNSPRLVQNCLWTLRNLSDVATKQEGLESVLKILVNQLSVDDVNVLTCATGTLSNLTC
  NNSKNKTLVTQNSGVEALIHAILRAGDKDDITEPAVCALRHLTSRHPEAEMAQNSVRLNY
  GIPAIVKLLNQPNQWPLVKATIGLIRNLALCPANHAPLQEAAVIPRLVQLLVKAHQDAQR
  HVAAGTQQPYTDGVRMEEIVEGCTGALHILARDPMNRMEIFRLNTIPLFVQLLYSSVENI
  QRVAAGVLCELAQDKEAADAIDAEGASAPLMELLHSRNEGTATYAAAVLFRISEDKNPDY
  RKRVSVELTNSLFKHDPAAWEAAQSMIPINEPYGDDMDATYRPMYSSDVPLDPLEMHMDM
  DGDYPIDTYSDGLRPPYPTADHMLA

• Sequence length: 745