Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Plakophilin-1

Gene

PKP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis.1 Publication

GO - Molecular functioni

  • intermediate filament binding Source: UniProtKB
  • lamin binding Source: BHF-UCL
  • signal transducer activity Source: ProtInc
  • structural constituent of epidermis Source: UniProtKB

GO - Biological processi

  • cell adhesion Source: UniProtKB
  • intermediate filament bundle assembly Source: BHF-UCL
  • multicellular organism development Source: UniProtKB-KW
  • signal transduction Source: UniProtKB
  • single organismal cell-cell adhesion Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000081277-MONOMER.
ReactomeiR-HSA-351906. Apoptotic cleavage of cell adhesion proteins.
R-HSA-6798695. Neutrophil degranulation.
R-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.
SignaLinkiQ13835.

Names & Taxonomyi

Protein namesi
Recommended name:
Plakophilin-1
Alternative name(s):
Band 6 protein
Short name:
B6P
Gene namesi
Name:PKP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:9023. PKP1.

Subcellular locationi

GO - Cellular componenti

  • desmosome Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • intermediate filament Source: ProtInc
  • intracellular membrane-bounded organelle Source: HPA
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Nucleus

Pathology & Biotechi

Involvement in diseasei

Ectodermal dysplasia-skin fragility syndrome (EDSFS)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions.
See also OMIM:604536

Keywords - Diseasei

Ectodermal dysplasia

Organism-specific databases

DisGeNETi5317.
MalaCardsiPKP1.
MIMi604536. phenotype.
OpenTargetsiENSG00000081277.
Orphaneti158668. Epidermolysis bullosa simplex due to plakophilin deficiency.
PharmGKBiPA33356.

Polymorphism and mutation databases

BioMutaiPKP1.
DMDMi20138951.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000642841 – 747Plakophilin-1Add BLAST747

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei121PhosphoserineBy similarity1
Modified residuei142PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ13835.
PaxDbiQ13835.
PeptideAtlasiQ13835.
PRIDEiQ13835.

PTM databases

iPTMnetiQ13835.
PhosphoSitePlusiQ13835.
SwissPalmiQ13835.

Expressioni

Tissue specificityi

Isoform 2 is widely expressed. Isoform 1 is expressed in stratified squamous, complex, glandular duct and bladder epithelia.

Gene expression databases

BgeeiENSG00000081277.
CleanExiHS_PKP1.
ExpressionAtlasiQ13835. baseline and differential.
GenevisibleiQ13835. HS.

Organism-specific databases

HPAiHPA027221.
HPA027589.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
DSPP159242EBI-9087684,EBI-355041
KRT14P025332EBI-9087684,EBI-702178
KRT18P057834EBI-9087684,EBI-297888
KRT5P136472EBI-9087684,EBI-702187
KRT8P057873EBI-9087684,EBI-297852
TNS2Q63HR23EBI-2513407,EBI-949753
VIMP086703EBI-9087684,EBI-353844

GO - Molecular functioni

  • intermediate filament binding Source: UniProtKB
  • lamin binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi111334. 33 interactors.
IntActiQ13835. 20 interactors.
STRINGi9606.ENSP00000263946.

Structurei

Secondary structure

1747
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi247 – 255Combined sources9
Helixi260 – 272Combined sources13
Helixi279 – 285Combined sources7
Helixi288 – 295Combined sources8
Helixi301 – 315Combined sources15
Helixi319 – 327Combined sources9
Helixi331 – 338Combined sources8
Helixi344 – 358Combined sources15
Beta strandi360 – 362Combined sources3
Helixi364 – 378Combined sources15
Helixi381 – 384Combined sources4
Helixi400 – 411Combined sources12
Helixi438 – 444Combined sources7
Helixi450 – 464Combined sources15
Helixi472 – 482Combined sources11
Turni483 – 485Combined sources3
Helixi486 – 489Combined sources4
Helixi493 – 499Combined sources7
Helixi539 – 544Combined sources6
Helixi546 – 558Combined sources13
Helixi562 – 575Combined sources14
Beta strandi579 – 581Combined sources3
Helixi582 – 591Combined sources10
Helixi597 – 603Combined sources7
Helixi609 – 623Combined sources15
Helixi626 – 628Combined sources3
Helixi629 – 635Combined sources7
Helixi637 – 642Combined sources6
Helixi654 – 669Combined sources16
Helixi674 – 679Combined sources6
Helixi682 – 686Combined sources5
Helixi689 – 693Combined sources5
Helixi698 – 709Combined sources12
Beta strandi712 – 714Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1XM9X-ray2.80A244-721[»]
ProteinModelPortaliQ13835.
SMRiQ13835.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13835.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati243 – 274ARM 1Add BLAST32
Repeati275 – 316ARM 2Add BLAST42
Repeati317 – 359ARM 3Add BLAST43
Repeati360 – 415ARM 4Add BLAST56
Repeati416 – 463ARM 5Add BLAST48
Repeati525 – 556ARM 6Add BLAST32
Repeati557 – 603ARM 7Add BLAST47
Repeati604 – 649ARM 8Add BLAST46
Repeati650 – 713ARM 9Add BLAST64

Sequence similaritiesi

Belongs to the beta-catenin family.Curated
Contains 9 ARM repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1048. Eukaryota.
ENOG410Y21Q. LUCA.
GeneTreeiENSGT00760000119167.
HOGENOMiHOG000060193.
HOVERGENiHBG096389.
InParanoidiQ13835.
KOiK10387.
OMAiAYECFQD.
OrthoDBiEOG091G02GJ.
PhylomeDBiQ13835.
TreeFamiTF321877.

Family and domain databases

Gene3Di1.25.10.10. 2 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
IPR028432. Plakophilin-1.
IPR028435. Plakophilin/d_Catenin.
[Graphical view]
PANTHERiPTHR10372. PTHR10372. 2 hits.
PTHR10372:SF3. PTHR10372:SF3. 2 hits.
PfamiPF00514. Arm. 1 hit.
[Graphical view]
SMARTiSM00185. ARM. 6 hits.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
PROSITEiPS50176. ARM_REPEAT. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 2 (identifier: Q13835-1) [UniParc]FASTAAdd to basket
Also known as: 1b

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNHSPLKTAL AYECFQDQDN STLALPSDQK MKTGTSGRQR VQEQVMMTVK
60 70 80 90 100
RQKSKSSQSS TLSHSNRGSM YDGLADNYNY GTTSRSSYYS KFQAGNGSWG
110 120 130 140 150
YPIYNGTLKR EPDNRRFSSY SQMENWSRHY PRGSCNTTGA GSDICFMQKI
160 170 180 190 200
KASRSEPDLY CDPRGTLRKG TLGSKGQKTT QNRYSFYSTC SGQKAIKKCP
210 220 230 240 250
VRPPSCASKQ DPVYIPPISC NKDLSFGHSR ASSKICSEDI ECSGLTIPKA
260 270 280 290 300
VQYLSSQDEK YQAIGAYYIQ HTCFQDESAK QQVYQLGGIC KLVDLLRSPN
310 320 330 340 350
QNVQQAAAGA LRNLVFRSTT NKLETRRQNG IREAVSLLRR TGNAEIQKQL
360 370 380 390 400
TGLLWNLSST DELKEELIAD ALPVLADRVI IPFSGWCDGN SNMSREVVDP
410 420 430 440 450
EVFFNATGCL RKRLGMRELL ALVPQRATSS RVNLSSADAG RQTMRNYSGL
460 470 480 490 500
IDSLMAYVQN CVAASRCDDK SVENCMCVLH NLSYRLDAEV PTRYRQLEYN
510 520 530 540 550
ARNAYTEKSS TGCFSNKSDK MMNNNYDCPL PEEETNPKGS GWLYHSDAIR
560 570 580 590 600
TYLNLMGKSK KDATLEACAG ALQNLTASKG LMSSGMSQLI GLKEKGLPQI
610 620 630 640 650
ARLLQSGNSD VVRSGASLLS NMSRHPLLHR VMGNQVFPEV TRLLTSHTGN
660 670 680 690 700
TSNSEDILSS ACYTVRNLMA SQPQLAKQYF SSSMLNNIIN LCRSSASPKA
710 720 730 740
AEAARLLLSD MWSSKELQGV LRQQGFDRNM LGTLAGANSL RNFTSRF
Length:747
Mass (Da):82,861
Last modified:January 23, 2002 - v2
Checksum:i60C1BCCC50AB4E6F
GO
Isoform 1 (identifier: Q13835-2) [UniParc]FASTAAdd to basket
Also known as: 1a

The sequence of this isoform differs from the canonical sequence as follows:
     412-432: Missing.

Show »
Length:726
Mass (Da):80,497
Checksum:iAE49B9396487AD31
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti154R → G in CAA55881 (PubMed:7527055).Curated1
Sequence conflicti216 – 222PPISCNK → RHLLQQ in CAA55881 (PubMed:7527055).Curated7
Sequence conflicti462V → E in CAA55881 (PubMed:7527055).Curated1
Sequence conflicti496Q → K in CAA55881 (PubMed:7527055).Curated1
Sequence conflicti506T → P in CAA55881 (PubMed:7527055).Curated1
Sequence conflicti553L → S in CAA55881 (PubMed:7527055).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033526116R → H.Corresponds to variant rs34626929dbSNPEnsembl.1
Natural variantiVAR_033527161C → Y.Corresponds to variant rs34704938dbSNPEnsembl.1
Natural variantiVAR_033528196I → V.Corresponds to variant rs35507614dbSNPEnsembl.1
Natural variantiVAR_053811415G → D.Corresponds to variant rs1626370dbSNPEnsembl.1
Natural variantiVAR_062171463A → V.Corresponds to variant rs10920171dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_006735412 – 432Missing in isoform 1. 3 PublicationsAdd BLAST21

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X79293 mRNA. Translation: CAA55881.1.
Z34974 mRNA. Translation: CAA84426.1.
Z73677 Genomic DNA. No translation available.
Z73678 Genomic DNA. Translation: CAA98022.1.
CH471067 Genomic DNA. Translation: EAW91350.1.
BC114571 mRNA. Translation: AAI14572.1.
CCDSiCCDS30966.1. [Q13835-1]
CCDS30967.1. [Q13835-2]
PIRiS60712.
RefSeqiNP_000290.2. NM_000299.3. [Q13835-1]
NP_001005337.1. NM_001005337.2. [Q13835-2]
UniGeneiHs.497350.

Genome annotation databases

EnsembliENST00000263946; ENSP00000263946; ENSG00000081277. [Q13835-1]
ENST00000352845; ENSP00000295597; ENSG00000081277. [Q13835-1]
ENST00000367324; ENSP00000356293; ENSG00000081277. [Q13835-2]
GeneIDi5317.
KEGGihsa:5317.
UCSCiuc001gwd.3. human. [Q13835-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X79293 mRNA. Translation: CAA55881.1.
Z34974 mRNA. Translation: CAA84426.1.
Z73677 Genomic DNA. No translation available.
Z73678 Genomic DNA. Translation: CAA98022.1.
CH471067 Genomic DNA. Translation: EAW91350.1.
BC114571 mRNA. Translation: AAI14572.1.
CCDSiCCDS30966.1. [Q13835-1]
CCDS30967.1. [Q13835-2]
PIRiS60712.
RefSeqiNP_000290.2. NM_000299.3. [Q13835-1]
NP_001005337.1. NM_001005337.2. [Q13835-2]
UniGeneiHs.497350.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1XM9X-ray2.80A244-721[»]
ProteinModelPortaliQ13835.
SMRiQ13835.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111334. 33 interactors.
IntActiQ13835. 20 interactors.
STRINGi9606.ENSP00000263946.

PTM databases

iPTMnetiQ13835.
PhosphoSitePlusiQ13835.
SwissPalmiQ13835.

Polymorphism and mutation databases

BioMutaiPKP1.
DMDMi20138951.

Proteomic databases

MaxQBiQ13835.
PaxDbiQ13835.
PeptideAtlasiQ13835.
PRIDEiQ13835.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263946; ENSP00000263946; ENSG00000081277. [Q13835-1]
ENST00000352845; ENSP00000295597; ENSG00000081277. [Q13835-1]
ENST00000367324; ENSP00000356293; ENSG00000081277. [Q13835-2]
GeneIDi5317.
KEGGihsa:5317.
UCSCiuc001gwd.3. human. [Q13835-1]

Organism-specific databases

CTDi5317.
DisGeNETi5317.
GeneCardsiPKP1.
HGNCiHGNC:9023. PKP1.
HPAiHPA027221.
HPA027589.
MalaCardsiPKP1.
MIMi601975. gene.
604536. phenotype.
neXtProtiNX_Q13835.
OpenTargetsiENSG00000081277.
Orphaneti158668. Epidermolysis bullosa simplex due to plakophilin deficiency.
PharmGKBiPA33356.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1048. Eukaryota.
ENOG410Y21Q. LUCA.
GeneTreeiENSGT00760000119167.
HOGENOMiHOG000060193.
HOVERGENiHBG096389.
InParanoidiQ13835.
KOiK10387.
OMAiAYECFQD.
OrthoDBiEOG091G02GJ.
PhylomeDBiQ13835.
TreeFamiTF321877.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000081277-MONOMER.
ReactomeiR-HSA-351906. Apoptotic cleavage of cell adhesion proteins.
R-HSA-6798695. Neutrophil degranulation.
R-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.
SignaLinkiQ13835.

Miscellaneous databases

ChiTaRSiPKP1. human.
EvolutionaryTraceiQ13835.
GeneWikiiPKP1.
GenomeRNAii5317.
PROiQ13835.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000081277.
CleanExiHS_PKP1.
ExpressionAtlasiQ13835. baseline and differential.
GenevisibleiQ13835. HS.

Family and domain databases

Gene3Di1.25.10.10. 2 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
IPR028432. Plakophilin-1.
IPR028435. Plakophilin/d_Catenin.
[Graphical view]
PANTHERiPTHR10372. PTHR10372. 2 hits.
PTHR10372:SF3. PTHR10372:SF3. 2 hits.
PfamiPF00514. Arm. 1 hit.
[Graphical view]
SMARTiSM00185. ARM. 6 hits.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
PROSITEiPS50176. ARM_REPEAT. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPKP1_HUMAN
AccessioniPrimary (citable) accession number: Q13835
Secondary accession number(s): O00645, Q14CA0, Q15152
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: January 23, 2002
Last modified: November 30, 2016
This is version 158 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.