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PKP1 plakophilin 1 [ Homo sapiens (human) ]

Gene ID: 5317, updated on 7-Jun-2020

Summary

Official Symbol
PKP1provided by HGNC
Official Full Name
plakophilin 1provided by HGNC
Primary source
HGNC:HGNC:9023
See related
Ensembl:ENSG00000081277 MIM:601975
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
B6P; EDSFS
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 be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Expression
Biased expression in skin (RPKM 358.6) and esophagus (RPKM 152.0) See more
Orthologs

Genomic context

See PKP1 in Genome Data Viewer
Location:
1q32.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (201283452..201332993)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201252580..201302121)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 9 Neighboring gene immunoglobulin like and fibronectin type III domain containing 1 Neighboring gene uncharacterized LOC101929326 Neighboring gene skeletal muscle cis-regulatory module in TNNT2 intron Neighboring gene troponin T2, cardiac type

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?

Phenotypes

Associated conditions

Description Tests
Epidermolysis bullosa simplex due to plakophilin deficiency
MedGen: C1858302 OMIM: 604536 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of panic disorder in the Japanese population.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Cellular biotinylated plakophilin 1 protein (PKP1) is incorporated into HIV-1 Gag virus-like particles PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138829

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intermediate filament binding NAS
Non-traceable Author Statement
more info
PubMed 
lamin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of epidermis NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cornification TAS
Traceable Author Statement
more info
 
intermediate filament bundle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intermediate filament bundle assembly IDA
Inferred from Direct Assay
more info
PubMed 
keratinization TAS
Traceable Author Statement
more info
 
negative regulation of mRNA catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cornified envelope TAS
Traceable Author Statement
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
desmosome NAS
Non-traceable Author Statement
more info
PubMed 
ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
intermediate filament TAS
Traceable Author Statement
more info
PubMed 
messenger ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
plakophilin-1
Names
band 6 protein

NCBI Reference Sequences (RefSeq)

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_023337.1 RefSeqGene

    Range
    5001..54542
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000299.3NP_000290.2  plakophilin-1 isoform 1b

    See identical proteins and their annotated locations for NP_000290.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1b) represents the longer transcript variant and encodes the longer protein (isoform 1b).
    Source sequence(s)
    AC119427, Z34974
    Consensus CDS
    CCDS30966.1
    UniProtKB/Swiss-Prot
    Q13835
    Related
    ENSP00000263946.3, ENST00000263946.7
    Conserved Domains (2) summary
    cd00020
    Location:238359
    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:239272
    ARM; armadillo repeat [structural motif]
  2. NM_001005337.3NP_001005337.1  plakophilin-1 isoform 1a

    See identical proteins and their annotated locations for NP_001005337.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1a) represents the shorter transcript variant as compared to variant 1b. It encodes the shorter protein (isoform 1a), compared to isoform 1b.
    Source sequence(s)
    AC119427, KF459531
    Consensus CDS
    CCDS30967.1
    UniProtKB/Swiss-Prot
    Q13835
    UniProtKB/TrEMBL
    A0A024R952
    Related
    ENSP00000356293.3, ENST00000367324.7
    Conserved Domains (2) summary
    smart00185
    Location:276316
    ARM; Armadillo/beta-catenin-like repeats
    sd00043
    Location:239272
    ARM; armadillo repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    201283452..201332993
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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