Seroatlas · Human Serome Atlas

PKP1

Plakophilin-1

Also known as: B6P, PKP1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q13835
Gene
PKP1
Ensembl
ENSG00000081277
Chromosome
1
Canonical length
747 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Plasma membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

747 residues, UniProt reviewed canonical sequence.

>Q13835|PKP1
     1  MNHSPLKTAL AYECFQDQDN STLALPSDQK MKTGTSGRQR VQEQVMMTVK RQKSKSSQSS
    61  TLSHSNRGSM YDGLADNYNY GTTSRSSYYS KFQAGNGSWG YPIYNGTLKR EPDNRRFSSY
   121  SQMENWSRHY PRGSCNTTGA GSDICFMQKI KASRSEPDLY CDPRGTLRKG TLGSKGQKTT
   181  QNRYSFYSTC SGQKAIKKCP VRPPSCASKQ DPVYIPPISC NKDLSFGHSR ASSKICSEDI
   241  ECSGLTIPKA VQYLSSQDEK YQAIGAYYIQ HTCFQDESAK QQVYQLGGIC KLVDLLRSPN
   301  QNVQQAAAGA LRNLVFRSTT NKLETRRQNG IREAVSLLRR TGNAEIQKQL TGLLWNLSST
   361  DELKEELIAD ALPVLADRVI IPFSGWCDGN SNMSREVVDP EVFFNATGCL RKRLGMRELL
   421  ALVPQRATSS RVNLSSADAG RQTMRNYSGL IDSLMAYVQN CVAASRCDDK SVENCMCVLH
   481  NLSYRLDAEV PTRYRQLEYN ARNAYTEKSS TGCFSNKSDK MMNNNYDCPL PEEETNPKGS
   541  GWLYHSDAIR TYLNLMGKSK KDATLEACAG ALQNLTASKG LMSSGMSQLI GLKEKGLPQI
   601  ARLLQSGNSD VVRSGASLLS NMSRHPLLHR VMGNQVFPEV TRLLTSHTGN TSNSEDILSS
   661  ACYTVRNLMA SQPQLAKQYF SSSMLNNIIN LCRSSASPKA AEAARLLLSD MWSSKELQGV
   721  LRQQGFDRNM LGTLAGANSL RNFTSRF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PKP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.38
Highest tissue expression
665 nTPM

Expression across tissuesHPA

Tissue

  • skin: 665 nTPM
  • esophagus: 405 nTPM
  • vagina: 192 nTPM
  • cervix: 159 nTPM
  • salivary gland: 56 nTPM
  • tonsil: 45 nTPM

Single-cell type

  • esophageal suprabasal cells: 962 nCPM
  • suprabasal keratinocytes: 807 nCPM
  • esophageal apical cells: 705 nCPM
  • esophageal basal cells: 403 nCPM
  • basal keratinocytes: 308 nCPM
  • ocular epithelial cells: 286 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • midbrain: 2.9 nTPM
  • cerebral cortex: 2.8 nTPM
  • pons: 1.6 nTPM
  • basal ganglia: 1 nTPM
  • white matter: 0.6 nTPM
  • hippocampal formation: 0.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PKP1.

Disease | AllUniProt

Conditions PKP1 is implicated in, by any mechanism.

  • Ectodermal dysplasia-skin fragility syndrome (EDSFS) MIM:604536

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 396 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Epidermolysis bullosa simplex due to plakophilin deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.56
gnomAD pLI
0
gnomAD missense Z
-0.32
DepMap mean gene effect
-0.05
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PKP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PKP1 as an antibody target. Whether an autoantibody or antibody against PKP1 could matter depends on whether native PKP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PKP1 is annotated at the cell surface, where native PKP1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label PKP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PKP1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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