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PKP3 plakophilin 3 [ Homo sapiens (human) ]

Gene ID: 11187, updated on 10-Dec-2024

Summary

Official Symbol
PKP3provided by HGNC
Official Full Name
plakophilin 3provided by HGNC
Primary source
HGNC:HGNC:9025
See related
Ensembl:ENSG00000184363 MIM:605561; AllianceGenome:HGNC:9025
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (392596..404908)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (437907..450273)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (392596..404908)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376505 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:320655-321210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4270 Neighboring gene interferon induced transmembrane protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4271 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:333329-333882 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:333883-334436 Neighboring gene CRISPRi-validated cis-regulatory element chr11.30 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4272 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:353490-353656 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:354319-354895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:355877-356829 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:368032-368570 Neighboring gene beta-1,4-N-acetyl-galactosaminyltransferase 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:380111-380268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:393662-394424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:396383-396912 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:405522-406215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3000 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:415472-416091 Neighboring gene single Ig and TIR domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3003 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:420870-421731 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:428546-429745 Neighboring gene anoctamin 9 Neighboring gene uncharacterized LOC105376506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:434102-434620 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
 
enables alpha-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in desmosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in desmosome assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in desmosome organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in epithelial cell-cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in epithelial structure maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of mRNA catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell cycle G1/S phase transition ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell-cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cytokine production involved in immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of hair follicle development ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 
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
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in desmosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in desmosome ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
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/TrEMBL
    E9PK71
    Related
    ENSP00000434517.3, ENST00000534401.6
    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
    F8J390, Q53EX8, Q9Y446
    UniProtKB/TrEMBL
    E9PK71
    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: 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_000011.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    437907..450273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)