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PKP3 plakophilin 3 [ Homo sapiens (human) ]

Gene ID: 11187, updated on 5-Sep-2021

Summary

Official Symbol
PKP3provided by HGNC
Official Full Name
plakophilin 3provided by HGNC
Primary source
HGNC:HGNC:9025
See related
Ensembl:ENSG00000184363 MIM:605561
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
Summary
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
Expression
Biased expression in skin (RPKM 51.4), esophagus (RPKM 46.7) and 11 other tissues See more
Orthologs
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Genomic context

See PKP3 in Genome Data Viewer
Location:
11p15.5
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (392596..404908)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (392596..404908)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr11.30 Neighboring gene beta-1,4-N-acetyl-galactosaminyltransferase 4 Neighboring gene single Ig and TIR domain containing Neighboring gene anoctamin 9 Neighboring gene uncharacterized LOC105376506 Neighboring gene RNA, 7SL, cytoplasmic 838, pseudogene

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables alpha-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cadherin binding involved in cell-cell adhesion HDA PubMed 
enables cell adhesion molecule binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT enables translation regulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in desmosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of mRNA catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT involved_in regulation of translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in adherens junction HDA PubMed 
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cell junction IDA
Inferred from Direct Assay
more info
 
located_in cell-cell junction TAS
Traceable Author Statement
more info
PubMed 
located_in cornified envelope TAS
Traceable Author Statement
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in desmosome IEA
Inferred from Electronic Annotation
more info
 
part_of messenger ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
plakophilin-3
Names
plakophilin 3b

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)

  1. NM_001303029.2NP_001289958.1  plakophilin-3 isoform PKP3b

    See identical proteins and their annotated locations for NP_001289958.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longer isoform (PKP3b).
    Source sequence(s)
    AC138230, AK025067, BC000081, CA947983, FN421477
    UniProtKB/Swiss-Prot
    Q9Y446
    Conserved Domains (2) summary
    cd00020
    Location:336447
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    sd00043
    Location:336361
    ARM; armadillo repeat [structural motif]
  2. NM_007183.4NP_009114.1  plakophilin-3 isoform PKP3a

    See identical proteins and their annotated locations for NP_009114.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate 5' exon structure and differs in the 5' UTR and coding region, compared to variant 2. The resulting isoform (PKP3a) has a shorter and distinct N-terminus compared to isoform PKP3b.
    Source sequence(s)
    AK025067, BC000081, CA947983, DB139782, FN421477
    Consensus CDS
    CCDS7695.1
    UniProtKB/Swiss-Prot
    Q9Y446
    Related
    ENSP00000331678.2, ENST00000331563.7
    Conserved Domains (2) summary
    smart00185
    Location:350390
    ARM; Armadillo/beta-catenin-like repeats
    sd00043
    Location:321346
    ARM; armadillo repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    392596..404908
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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