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PKP3 plakophilin 3 [ Homo sapiens (human) ]

Gene ID: 11187, updated on 26-May-2016
Official Symbol
PKP3provided by HGNC
Official Full Name
plakophilin 3provided by HGNC
Primary source
HGNC:HGNC:9025
See related
Ensembl:ENSG00000184363 HPRD:05711; MIM:605561; Vega:OTTHUMG00000119068
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]
Orthologs
Location:
11p15
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (392599..404908)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (392614..404908)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376505 Neighboring gene beta-1,4-N-acetyl-galactosaminyltransferase 4 Neighboring gene single immunoglobulin and toll-interleukin 1 receptor (TIR) domain Neighboring gene anoctamin 9 Neighboring gene uncharacterized LOC105376506

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
cell adhesion molecule binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
desmosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
single organismal cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell-cell junction TAS
Traceable Author Statement
more info
PubMed 
desmosome IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
plakophilin-3
Names
plakophilin 3b

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_001303029.1NP_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)
    AK025067, BC000081, CA947983, FN421477
    UniProtKB/Swiss-Prot
    Q9Y446
    Conserved Domains (1) 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, ...
  2. NM_007183.3NP_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, OTTHUMP00000147609, ENST00000331563, OTTHUMT00000239281
    Conserved Domains (1) summary
    cd00020
    Location:321432
    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, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    392599..404908
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    390167..403830
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)