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Q13835 (PKP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 133. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Plakophilin-1
Alternative name(s):
Band 6 protein
Short name=B6P
Gene names
Name:PKP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length747 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis. Ref.5

Subcellular location

Isoform 1: Nucleus. Cell junctiondesmosome.

Nucleus.

Tissue specificity

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

Involvement in disease

Ectodermal dysplasia-skin fragility syndrome (EDSFS) [MIM:604536]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities

Belongs to the beta-catenin family.

Contains 9 ARM repeats.

Ontologies

Keywords
   Biological processCell adhesion
   Cellular componentCell junction
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseEctodermal dysplasia
   DomainRepeat
   Molecular functionDevelopmental protein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processapoptotic process

Traceable author statement. Source: Reactome

cell adhesion

Non-traceable author statement PubMed 10852826. Source: UniProtKB

cellular component disassembly involved in execution phase of apoptosis

Traceable author statement. Source: Reactome

intermediate filament bundle assembly

Inferred from direct assay PubMed 10852826. Source: BHF-UCL

multicellular organismal development

Inferred from electronic annotation. Source: UniProtKB-KW

signal transduction

Non-traceable author statement Ref.1. Source: UniProtKB

single organismal cell-cell adhesion

Inferred from electronic annotation. Source: InterPro

   Cellular_componentdesmosome

Non-traceable author statement Ref.1. Source: UniProtKB

intermediate filament

Traceable author statement Ref.1. Source: ProtInc

intracellular membrane-bounded organelle

Inferred from direct assay. Source: HPA

nucleus

Non-traceable author statement Ref.2. Source: UniProtKB

plasma membrane

Inferred from direct assay. Source: HPA

   Molecular_functionintermediate filament binding

Non-traceable author statement PubMed 10852826. Source: UniProtKB

lamin binding

Inferred from direct assay PubMed 10852826. Source: BHF-UCL

protein binding

Inferred from physical interaction PubMed 10852826. Source: BHF-UCL

signal transducer activity

Traceable author statement Ref.1Ref.5. Source: ProtInc

structural constituent of epidermis

Non-traceable author statement Ref.1. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 2 (identifier: Q13835-1)

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.
Isoform 1 (identifier: Q13835-2)

Also known as: 1a;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 747747Plakophilin-1
PRO_0000064284

Regions

Repeat243 – 27432ARM 1
Repeat275 – 31642ARM 2
Repeat317 – 35943ARM 3
Repeat360 – 41556ARM 4
Repeat416 – 46348ARM 5
Repeat525 – 55632ARM 6
Repeat557 – 60347ARM 7
Repeat604 – 64946ARM 8
Repeat650 – 71364ARM 9

Natural variations

Alternative sequence412 – 43221Missing in isoform 1.
VSP_006735
Natural variant1161R → H.
Corresponds to variant rs34626929 [ dbSNP | Ensembl ].
VAR_033526
Natural variant1611C → Y.
Corresponds to variant rs34704938 [ dbSNP | Ensembl ].
VAR_033527
Natural variant1961I → V.
Corresponds to variant rs35507614 [ dbSNP | Ensembl ].
VAR_033528
Natural variant4151G → D.
Corresponds to variant rs1626370 [ dbSNP | Ensembl ].
VAR_053811
Natural variant4631A → V.
Corresponds to variant rs10920171 [ dbSNP | Ensembl ].
VAR_062171

Experimental info

Sequence conflict1541R → G in CAA55881. Ref.1
Sequence conflict216 – 2227PPISCNK → RHLLQQ in CAA55881. Ref.1
Sequence conflict4621V → E in CAA55881. Ref.1
Sequence conflict4961Q → K in CAA55881. Ref.1
Sequence conflict5061T → P in CAA55881. Ref.1
Sequence conflict5531L → S in CAA55881. Ref.1

Secondary structure

................................................................. 747
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 2 (1b) [UniParc].

Last modified January 23, 2002. Version 2.
Checksum: 60C1BCCC50AB4E6F

FASTA74782,861
        10         20         30         40         50         60 
MNHSPLKTAL AYECFQDQDN STLALPSDQK MKTGTSGRQR VQEQVMMTVK RQKSKSSQSS 

        70         80         90        100        110        120 
TLSHSNRGSM YDGLADNYNY GTTSRSSYYS KFQAGNGSWG YPIYNGTLKR EPDNRRFSSY 

       130        140        150        160        170        180 
SQMENWSRHY PRGSCNTTGA GSDICFMQKI KASRSEPDLY CDPRGTLRKG TLGSKGQKTT 

       190        200        210        220        230        240 
QNRYSFYSTC SGQKAIKKCP VRPPSCASKQ DPVYIPPISC NKDLSFGHSR ASSKICSEDI 

       250        260        270        280        290        300 
ECSGLTIPKA VQYLSSQDEK YQAIGAYYIQ HTCFQDESAK QQVYQLGGIC KLVDLLRSPN 

       310        320        330        340        350        360 
QNVQQAAAGA LRNLVFRSTT NKLETRRQNG IREAVSLLRR TGNAEIQKQL TGLLWNLSST 

       370        380        390        400        410        420 
DELKEELIAD ALPVLADRVI IPFSGWCDGN SNMSREVVDP EVFFNATGCL RKRLGMRELL 

       430        440        450        460        470        480 
ALVPQRATSS RVNLSSADAG RQTMRNYSGL IDSLMAYVQN CVAASRCDDK SVENCMCVLH 

       490        500        510        520        530        540 
NLSYRLDAEV PTRYRQLEYN ARNAYTEKSS TGCFSNKSDK MMNNNYDCPL PEEETNPKGS 

       550        560        570        580        590        600 
GWLYHSDAIR TYLNLMGKSK KDATLEACAG ALQNLTASKG LMSSGMSQLI GLKEKGLPQI 

       610        620        630        640        650        660 
ARLLQSGNSD VVRSGASLLS NMSRHPLLHR VMGNQVFPEV TRLLTSHTGN TSNSEDILSS 

       670        680        690        700        710        720 
ACYTVRNLMA SQPQLAKQYF SSSMLNNIIN LCRSSASPKA AEAARLLLSD MWSSKELQGV 

       730        740 
LRQQGFDRNM LGTLAGANSL RNFTSRF 

« Hide

Isoform 1 (1a) [UniParc].

Checksum: AE49B9396487AD31
Show »

FASTA72680,497

References

« Hide 'large scale' references
[1]"Band 6 protein, a major constituent of desmosomes from stratified epithelia, is a novel member of the armadillo multigene family."
Hatzfeld M., Kristjansson G.I., Plessmann U., Weber K.
J. Cell Sci. 107:2259-2270(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Epidermis.
[2]"Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components."
Schmidt A., Langbein L., Rode M., Praetzel S., Zimbelmann R., Franke W.W.
Cell Tissue Res. 290:481-499(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]"Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome."
McGrath J.A., McMillan J.R., Shemanko C.S., Runswick S.K., Leigh I.M., Lane E.B., Garrod D.R., Eady R.A.J.
Nat. Genet. 17:240-244(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME, FUNCTION.
[6]"Structure of the armadillo repeat domain of plakophilin 1."
Choi H.-J., Weis W.I.
J. Mol. Biol. 346:367-376(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 244-721, DOMAINS ARM REPEATS.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS30966.1. [Q13835-1]
CCDS30967.1. [Q13835-2]
PIRS60712.
RefSeqNP_000290.2. NM_000299.3. [Q13835-1]
NP_001005337.1. NM_001005337.2. [Q13835-2]
UniGeneHs.497350.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1XM9X-ray2.80A244-721[»]
ProteinModelPortalQ13835.
SMRQ13835. Positions 244-721.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111334. 16 interactions.
IntActQ13835. 13 interactions.
STRING9606.ENSP00000263946.

PTM databases

PhosphoSiteQ13835.

Polymorphism databases

DMDM20138951.

Proteomic databases

MaxQBQ13835.
PaxDbQ13835.
PRIDEQ13835.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263946; ENSP00000263946; ENSG00000081277. [Q13835-1]
ENST00000352845; ENSP00000295597; ENSG00000081277. [Q13835-1]
ENST00000367324; ENSP00000356293; ENSG00000081277. [Q13835-2]
GeneID5317.
KEGGhsa:5317.
UCSCuc001gwd.3. human. [Q13835-1]
uc001gwe.3. human. [Q13835-2]

Organism-specific databases

CTD5317.
GeneCardsGC01P201252.
HGNCHGNC:9023. PKP1.
HPAHPA027221.
HPA027589.
MIM601975. gene.
604536. phenotype.
neXtProtNX_Q13835.
Orphanet158668. Epidermolysis bullosa simplex due to plakophilin deficiency.
PharmGKBPA33356.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG262883.
HOGENOMHOG000060193.
HOVERGENHBG096389.
InParanoidQ13835.
KOK10387.
OMANYGTTSR.
OrthoDBEOG7QVM31.
PhylomeDBQ13835.
TreeFamTF321877.

Enzyme and pathway databases

ReactomeREACT_578. Apoptosis.
SignaLinkQ13835.

Gene expression databases

ArrayExpressQ13835.
BgeeQ13835.
CleanExHS_PKP1.
GenevestigatorQ13835.

Family and domain databases

Gene3D1.25.10.10. 2 hits.
InterProIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
IPR028432. Plakophilin-1.
IPR028435. Plakophilin/d_Catenin.
[Graphical view]
PANTHERPTHR10372. PTHR10372. 1 hit.
PTHR10372:SF3. PTHR10372:SF3. 1 hit.
PfamPF00514. Arm. 1 hit.
[Graphical view]
SMARTSM00185. ARM. 6 hits.
[Graphical view]
SUPFAMSSF48371. SSF48371. 1 hit.
PROSITEPS50176. ARM_REPEAT. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ13835.
GeneWikiPKP1.
GenomeRNAi5317.
NextBio20566.
PROQ13835.
SOURCESearch...

Entry information

Entry namePKP1_HUMAN
AccessionPrimary (citable) accession number: Q13835
Secondary accession number(s): O00645, Q14CA0, Q15152
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: January 23, 2002
Last modified: July 9, 2014
This is version 133 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM