PKP1 plakophilin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PKP1provided by HGNC
Official Full Name: plakophilin 1provided by HGNC
Primary source: HGNC:HGNC:9023
See related: Ensembl:ENSG00000081277 MIM:601975; AllianceGenome:HGNC:9023
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: mouse all
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Genomic context

Location:: 1q32.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (201283506..201332989)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (200541289..200590813)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (201252634..201302117)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unveiling the Binding between the Armadillo-Repeat Domain of Plakophilin 1 and the Intrinsically Disordered Transcriptional Repressor RYBP.
Title: Unveiling the Binding between the Armadillo-Repeat Domain of Plakophilin 1 and the Intrinsically Disordered Transcriptional Repressor RYBP.
The role of PKP1 in tumor progression in melanoma: Analysis of a cell adhesion-related model.
Title: The role of PKP1 in tumor progression in melanoma: Analysis of a cell adhesion-related model.
Elucidation of the inhibitory potential of flavonoids against PKP1 protein in non-small cell lung cancer.
Title: Elucidation of the inhibitory potential of flavonoids against PKP1 protein in non-small cell lung cancer.
Plakophilin 1 deficiency in prostatic tumours is correlated with immune cell recruitment and controls the up-regulation of cytokine expression post-transcriptionally.
Title: Plakophilin 1 deficiency in prostatic tumours is correlated with immune cell recruitment and controls the up-regulation of cytokine expression post-transcriptionally.
The armadillo-repeat domain of Plakophilin 1 binds to human enzyme PADI4.
Title: The armadillo-repeat domain of Plakophilin 1 binds to human enzyme PADI4.
PKP1 and MYC create a feedforward loop linking transcription and translation in squamous cell lung cancer.
Title: PKP1 and MYC create a feedforward loop linking transcription and translation in squamous cell lung cancer.
The Prognostic Significance of Plakophilin-1 Expression in Esophageal Cancer.
Title: The Prognostic Significance of Plakophilin-1 Expression in Esophageal Cancer.
Intrinsically disordered protein NUPR1 binds to the armadillo-repeat domain of Plakophilin 1.
Title: Intrinsically disordered protein NUPR1 binds to the armadillo-repeat domain of Plakophilin 1.
LncRNA APPAT regulated miR-328a/Pkp1 signal pathway to participate in breast cancer.
Title: LncRNA APPAT regulated miR-328a/Pkp1 signal pathway to participate in breast cancer.
In advanced primary lung tumor samples, higher expression of plakophilin 1 (PKP1) was significantly associated with favorable clinical outcome.
Title: Plakophilin 1 is methylated and has a tumor suppressive activity in human lung cancer.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

Description
Genome-wide association study of panic disorder in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3142 (e-PCR)
- UniSTS:45071

SHGC-150584 (e-PCR)
- UniSTS:173340

D1S477 (e-PCR), detects polymorphism
- UniSTS:26916

G59460 (e-PCR)
- UniSTS:136766

D1S310 (e-PCR)
- UniSTS:147803

SHGC-34136 (e-PCR)
- UniSTS:1739

G34869 (e-PCR)
- UniSTS:74715

SHGC-1568 (e-PCR)
- UniSTS:90337

SHGC-76146 (e-PCR)
- UniSTS:80118

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables cadherin binding	IBA Inferred from Biological aspect of Ancestor more info
enables intermediate filament binding	NAS Non-traceable Author Statement more info	PubMed
enables lamin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of skin epidermis	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in ameloblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in desmosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in desmosome maintenance	IEA Inferred from Electronic Annotation more info
involved_in intermediate filament bundle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mRNA catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cap-dependent translational initiation	IMP Inferred from Mutant Phenotype more info	PubMed
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 gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of keratinocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in transepithelial water transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
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	NAS Non-traceable Author Statement more info	PubMed
located_in ficolin-1-rich granule membrane	TAS Traceable Author Statement more info
located_in intermediate filament	TAS Traceable Author Statement more info	PubMed
located_in nuclear stress granule	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
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in perinuclear region of cytoplasm	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

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Preferred Names: plakophilin-1

Names: band 6 protein

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.

Genomic

NG_023337.2 RefSeqGene

Range

5002..54485

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000299.4 → NP_000290.2 plakophilin-1 isoform 1b

Status: REVIEWED

Description

Transcript Variant: This variant (1b) represents the longer transcript variant and encodes the longer protein (isoform 1b).

Source sequence(s)

AC119427, KF459531

Consensus CDS

CCDS30966.1

UniProtKB/Swiss-Prot

O00645, Q13835, Q14CA0, Q15152

Related

ENSP00000263946.3, ENST00000263946.7

Conserved Domains (2) summary

cd00020
Location:238 → 359

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:239 → 272

ARM; armadillo repeat [structural motif]
NM_001005337.3 → NP_001005337.1 plakophilin-1 isoform 1a

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

Related

ENSP00000356293.4, ENST00000367324.8

Conserved Domains (2) summary

smart00185
Location:276 → 316

ARM; Armadillo/beta-catenin-like repeats

sd00043
Location:239 → 272

ARM; armadillo repeat [structural motif]