PKP1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Group enriched (esophagus, skin)
GTEx:Group enriched (cervix, uterine, esophagus, skin, vagina)

Protein evidence

Evidence at protein level

Protein localization

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

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA027221 , HPA027589
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Urinary bladder

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (esophagus, skin)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (cervix, uterine, esophagus, skin, vagina)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

5317

UniProt

Q13835 (UniProt - Evidence at protein level)

neXtProt

NX_Q13835

Antibodypedia

PKP1 antibodies


PROTEIN BROWSER

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ENST00000263946
 
ENST00000352845
 
ENST00000367324
 
ENST00000622031
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PKP1-001 ENSP00000356293
ENST00000367324
Q13835
Show all »
Show » Show » 726 80.5 No 0
PKP1-004 ENSP00000295597
ENST00000352845
Q13835
Show all »
Show » Show » 747 82.9 No 0
PKP1-201 ENSP00000263946
ENST00000263946
Q13835
Show all »
Show » Show » 747 82.9 No 0
PKP1-202 ENSP00000482213
ENST00000622031
Q14BN3
Show all »
Show » Show » 725 80.5 No 0