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PKP1

GENERAL INFORMATION

Gene name

 PKP1

Gene description

 Plakophilin 1

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (esophagus, skin)
GTEx:Group enriched (esophagus, skin, vagina)
FANTOM5:Group enriched (cervix, uterine, esophagus, tonsil)

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous cytoplasmic expression with additional nuclear and membranous expression in several cases, most abundant in squamous epithelia.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Approved based on 2 antibodies.
HPA027221 , HPA027589
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (esophagus, skin)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (esophagus, skin, vagina)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (cervix, uterine, esophagus, tonsil)

GENE INFORMATION

Gene name

 PKP1 (HGNC Symbol)

Synonyms

 B6P

Description

 Plakophilin 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

 1

Cytoband

 q32.1

Chromosome location (bp)

 201283452 - 201332993

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000081277 (version 83.38)

Entrez gene

 5317

UniProt

 Q13835 (UniProt - Evidence at protein level)

neXtProt

 NX_Q13835

Antibodypedia

 PKP1 antibodies

PROTEIN BROWSER
PKP1-001
PKP1-004
PKP1-201
PKP1-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PKP1-001
ENSP00000356293
ENST00000367324
Q13835 [Direct mapping]
Plakophilin-1
A0A024R952 [Target identity:100%; Query identity:100%]
Plakophilin 1 (Ectodermal dysplasia/skin fragility syndrome), isoform CRA_a
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Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004871 [signal transducer activity]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005521 [lamin binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005882 [intermediate filament]
GO:0005886 [plasma membrane]
GO:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0007155 [cell adhesion]
GO:0007165 [signal transduction]
GO:0007275 [multicellular organismal development]
GO:0012501 [programmed cell death]
GO:0016337 [single organismal cell-cell adhesion]
GO:0019215 [intermediate filament binding]
GO:0030057 [desmosome]
GO:0030280 [structural constituent of epidermis]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045110 [intermediate filament bundle assembly]
GO:0070062 [extracellular exosome]
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 726 aa
80.5 kDa 		No 0
PKP1-004
ENSP00000295597
ENST00000352845
Q13835 [Direct mapping]
Plakophilin-1
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   SCAMPI predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004871 [signal transducer activity]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005521 [lamin binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005882 [intermediate filament]
GO:0005886 [plasma membrane]
GO:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0007155 [cell adhesion]
GO:0007165 [signal transduction]
GO:0007275 [multicellular organismal development]
GO:0012501 [programmed cell death]
GO:0016337 [single organismal cell-cell adhesion]
GO:0019215 [intermediate filament binding]
GO:0030057 [desmosome]
GO:0030280 [structural constituent of epidermis]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045110 [intermediate filament bundle assembly]
GO:0070062 [extracellular exosome]
Show all
 747 aa
82.9 kDa 		No 0
PKP1-201
ENSP00000263946
ENST00000263946
Q13835 [Direct mapping]
Plakophilin-1
Show all
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004871 [signal transducer activity]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005521 [lamin binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005882 [intermediate filament]
GO:0005886 [plasma membrane]
GO:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0007155 [cell adhesion]
GO:0007165 [signal transduction]
GO:0007275 [multicellular organismal development]
GO:0012501 [programmed cell death]
GO:0016337 [single organismal cell-cell adhesion]
GO:0019215 [intermediate filament binding]
GO:0030057 [desmosome]
GO:0030280 [structural constituent of epidermis]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045110 [intermediate filament bundle assembly]
GO:0070062 [extracellular exosome]
Show all
 747 aa
82.9 kDa 		No 0
PKP1-202
ENSP00000482213
ENST00000622031
A0A087WYY6 [Direct mapping]
Plakophilin-1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0016337 [single organismal cell-cell adhesion]
GO:0030057 [desmosome]
Show all
 725 aa
80.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.