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JUP junction plakoglobin [ Homo sapiens (human) ]

Gene ID: 3728, updated on 10-Dec-2024

Summary

Official Symbol
JUPprovided by HGNC
Official Full Name
junction plakoglobinprovided by HGNC
Primary source
HGNC:HGNC:6207
See related
Ensembl:ENSG00000173801 MIM:173325; AllianceGenome:HGNC:6207
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
PG; DP3; PDGB; PKGB; CTNNG; DPIII
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]
Expression
Broad expression in skin (RPKM 236.9), esophagus (RPKM 189.1) and 16 other tissues See more
Orthologs
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Genomic context

See JUP in Genome Data Viewer
Location:
17q21.2
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41754609..41786711, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42611153..42643244, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39910861..39942963, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39881045-39881584 Neighboring gene huntingtin associated protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39889784-39890326 Neighboring gene RNA, 7SL, cytoplasmic 399, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39927459-39927963 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39927964-39928467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39932003-39932506 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:39942255-39942467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39947785-39948448 Neighboring gene CRISPRi-validated cis-regulatory element chr17.2540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39956106-39956612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39956613-39957119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12172 Neighboring gene prolyl 3-hydroxylase family member 4 (inactive) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39971057-39971558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39971559-39972058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39974907-39975818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39975819-39976730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39977650-39978248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39978249-39978845 Neighboring gene FKBP prolyl isomerase 10

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-catenin binding  
enables alpha-catenin binding PubMed 
enables cadherin binding PubMed 
enables cadherin binding  
enables cadherin binding PubMed 
enables cell adhesion molecule binding PubMed 
enables cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication PubMed 
enables cytoskeletal protein-membrane anchor activity PubMed 
enables nuclear receptor binding  
enables protein binding PubMed 
enables protein homodimerization activity  
enables protein phosphatase binding  
enables protein phosphatase binding PubMed 
enables structural molecule activity PubMed 
enables transcription coactivator activity  
enables transcription coactivator activity PubMed 
Process Evidence Code Pubs
involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication PubMed 
involved_in canonical Wnt signaling pathway  
involved_in cell migration PubMed 
involved_in cell-cell adhesion  
involved_in cell-cell adhesion PubMed 
involved_in cell-cell adhesion PubMed 
involved_in cellular response to indole-3-methanol PubMed 
involved_in desmosome assembly PubMed 
involved_in desmosome assembly PubMed 
involved_in detection of mechanical stimulus PubMed 
involved_in endothelial cell-cell adhesion  
involved_in negative regulation of blood vessel endothelial cell migration PubMed 
involved_in positive regulation of DNA-binding transcription factor activity PubMed 
involved_in positive regulation of angiogenesis PubMed 
involved_in positive regulation of canonical Wnt signaling pathway PubMed 
involved_in positive regulation of cell-matrix adhesion PubMed 
involved_in positive regulation of protein import into nucleus PubMed 
involved_in positive regulation of transcription by RNA polymerase II  
involved_in protein localization to plasma membrane PubMed 
involved_in regulation of cell population proliferation PubMed 
involved_in regulation of heart rate by cardiac conduction PubMed 
involved_in regulation of ventricular cardiac muscle cell action potential PubMed 
involved_in skin development  
Items 1 - 20 of 28
Component Evidence Code Pubs
located_in Z disc  
is_active_in adherens junction  
located_in adherens junction PubMed 
part_of catenin complex  
part_of catenin complex PubMed 
located_in cell-cell junction PubMed 
located_in cornified envelope  
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytoplasmic side of plasma membrane  
located_in cytoskeleton  
located_in cytosol  
located_in desmosome PubMed 
located_in extracellular exosome PubMed 
located_in extracellular region  
located_in ficolin-1-rich granule lumen  
located_in focal adhesion PubMed 
part_of gamma-catenin-TCF7L2 complex PubMed 
NOT located_in hemidesmosome  
located_in intercalated disc PubMed 
located_in intermediate filament  
is_active_in nucleus  
located_in nucleus PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane  
part_of protein-DNA complex PubMed 
located_in specific granule lumen  
located_in zonula adherens  
Items 1 - 20 of 28

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_009090.2 RefSeqGene

    Range
    5001..37106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_401

mRNA and Protein(s)

  1. NM_001352773.2NP_001339702.1  junction plakoglobin

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript. Variants 1-7 encode the same protein.
    Source sequence(s)
    AC109319
    Consensus CDS
    CCDS11407.1
    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
    Conserved Domains (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  2. NM_001352774.2NP_001339703.1  junction plakoglobin

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks alternate segments in the 5' and 3' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.
    Source sequence(s)
    AC109319
    Consensus CDS
    CCDS11407.1
    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
    Conserved Domains (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  3. NM_001352775.2NP_001339704.1  junction plakoglobin

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks alternate segments in the 5' and 3' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.
    Source sequence(s)
    AC109319
    Consensus CDS
    CCDS11407.1
    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
    Conserved Domains (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  4. NM_001352776.2NP_001339705.1  junction plakoglobin

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has multiple differences in the 5' and 3' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.
    Source sequence(s)
    AC109319
    Consensus CDS
    CCDS11407.1
    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
    Conserved Domains (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  5. NM_001352777.2NP_001339706.1  junction plakoglobin

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has a novel exon in the 5' UTR and lacks an alternate segment in the 3' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.
    Source sequence(s)
    AC109319
    Consensus CDS
    CCDS11407.1
    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
    Conserved Domains (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  6. NM_002230.4NP_002221.1  junction plakoglobin

    See identical proteins and their annotated locations for NP_002221.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate segment in the 5' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.
    Source sequence(s)
    AC109319
    Consensus CDS
    CCDS11407.1
    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
    Related
    ENSP00000377508.3, ENST00000393931.8
    Conserved Domains (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  7. NM_021991.4NP_068831.1  junction plakoglobin

    See identical proteins and their annotated locations for NP_068831.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment in the 3' UTR, compared to transcript variant 3. Variants 1-7 encode the same protein.
    Source sequence(s)
    AC109319
    Consensus CDS
    CCDS11407.1
    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
    Related
    ENSP00000311113.5, ENST00000310706.9
    Conserved Domains (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    41754609..41786711 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435939.1XP_047291895.1  junction plakoglobin isoform X2

    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
  2. XM_047435934.1XP_047291890.1  junction plakoglobin isoform X1

  3. XM_006721874.4XP_006721937.1  junction plakoglobin isoform X2

    See identical proteins and their annotated locations for XP_006721937.1

    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
    Conserved Domains (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  4. XM_047435935.1XP_047291891.1  junction plakoglobin isoform X1

  5. XM_006721875.2XP_006721938.1  junction plakoglobin isoform X2

    See identical proteins and their annotated locations for XP_006721938.1

    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
    Conserved Domains (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  6. XM_047435942.1XP_047291898.1  junction plakoglobin isoform X2

    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
  7. XM_011524758.2XP_011523060.1  junction plakoglobin isoform X2

    See identical proteins and their annotated locations for XP_011523060.1

    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
    Conserved Domains (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  8. XM_047435937.1XP_047291893.1  junction plakoglobin isoform X1

  9. XM_047435941.1XP_047291897.1  junction plakoglobin isoform X2

    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
  10. XM_017024590.2XP_016880079.1  junction plakoglobin isoform X2

    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
    Conserved Domains (4) summary
    smart00185
    Location:341381
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:328658
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:393418
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:221253
    Arm; Armadillo/beta-catenin-like repeat
  11. XM_047435940.1XP_047291896.1  junction plakoglobin isoform X2

    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
  12. XM_047435938.1XP_047291894.1  junction plakoglobin isoform X2

    UniProtKB/Swiss-Prot
    P14923, Q15093, Q15151, Q7L3S5, Q86W21, Q9BWC4, Q9HCX9
    UniProtKB/TrEMBL
    A0A0S2Z487
    Related
    ENSP00000377507.1, ENST00000393930.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    42611153..42643244 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315984.1XP_054171959.1  junction plakoglobin isoform X1

  2. XM_054315986.1XP_054171961.1  junction plakoglobin isoform X2

  3. XM_054315989.1XP_054171964.1  junction plakoglobin isoform X2

  4. XM_054315988.1XP_054171963.1  junction plakoglobin isoform X2

  5. XM_054315983.1XP_054171958.1  junction plakoglobin isoform X1

  6. XM_054315992.1XP_054171967.1  junction plakoglobin isoform X2

  7. XM_054315987.1XP_054171962.1  junction plakoglobin isoform X2

  8. XM_054315985.1XP_054171960.1  junction plakoglobin isoform X1

  9. XM_054315993.1XP_054171968.1  junction plakoglobin isoform X2

  10. XM_054315991.1XP_054171966.1  junction plakoglobin isoform X2

  11. XM_054315990.1XP_054171965.1  junction plakoglobin isoform X2

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