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Q13835

- PKP1_HUMAN

UniProt

Q13835 - PKP1_HUMAN

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Protein

Plakophilin-1

Gene

PKP1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. intermediate filament binding Source: UniProtKB
  2. lamin binding Source: BHF-UCL
  3. signal transducer activity Source: ProtInc
  4. structural constituent of epidermis Source: UniProtKB

GO - Biological processi

  1. apoptotic process Source: Reactome
  2. cell adhesion Source: UniProtKB
  3. cellular component disassembly involved in execution phase of apoptosis Source: Reactome
  4. intermediate filament bundle assembly Source: BHF-UCL
  5. multicellular organismal development Source: UniProtKB-KW
  6. signal transduction Source: UniProtKB
  7. single organismal cell-cell adhesion Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

ReactomeiREACT_13579. Apoptotic cleavage of cell adhesion proteins.
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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:9023. PKP1.

Subcellular locationi

GO - Cellular componenti

  1. desmosome Source: UniProtKB
  2. extracellular vesicular exosome Source: UniProt
  3. intermediate filament Source: ProtInc
  4. intracellular membrane-bounded organelle Source: HPA
  5. nucleus Source: UniProtKB
  6. plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.

Keywords - Diseasei

Ectodermal dysplasia

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 747747Plakophilin-1PRO_0000064284Add
BLAST

Proteomic databases

MaxQBiQ13835.
PaxDbiQ13835.
PRIDEiQ13835.

PTM databases

PhosphoSiteiQ13835.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ13835.
CleanExiHS_PKP1.
ExpressionAtlasiQ13835. baseline and differential.
GenevestigatoriQ13835.

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
VIMP086703EBI-9087684,EBI-353844

Protein-protein interaction databases

BioGridi111334. 25 interactions.
IntActiQ13835. 13 interactions.
STRINGi9606.ENSP00000263946.

Structurei

Secondary structure

1
747
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi247 – 2559Combined sources
Helixi260 – 27213Combined sources
Helixi279 – 2857Combined sources
Helixi288 – 2958Combined sources
Helixi301 – 31515Combined sources
Helixi319 – 3279Combined sources
Helixi331 – 3388Combined sources
Helixi344 – 35815Combined sources
Beta strandi360 – 3623Combined sources
Helixi364 – 37815Combined sources
Helixi381 – 3844Combined sources
Helixi400 – 41112Combined sources
Helixi438 – 4447Combined sources
Helixi450 – 46415Combined sources
Helixi472 – 48211Combined sources
Turni483 – 4853Combined sources
Helixi486 – 4894Combined sources
Helixi493 – 4997Combined sources
Helixi539 – 5446Combined sources
Helixi546 – 55813Combined sources
Helixi562 – 57514Combined sources
Beta strandi579 – 5813Combined sources
Helixi582 – 59110Combined sources
Helixi597 – 6037Combined sources
Helixi609 – 62315Combined sources
Helixi626 – 6283Combined sources
Helixi629 – 6357Combined sources
Helixi637 – 6426Combined sources
Helixi654 – 66916Combined sources
Helixi674 – 6796Combined sources
Helixi682 – 6865Combined sources
Helixi689 – 6935Combined sources
Helixi698 – 70912Combined sources
Beta strandi712 – 7143Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1XM9X-ray2.80A244-721[»]
ProteinModelPortaliQ13835.
SMRiQ13835. Positions 244-721.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13835.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati243 – 27432ARM 1Add
BLAST
Repeati275 – 31642ARM 2Add
BLAST
Repeati317 – 35943ARM 3Add
BLAST
Repeati360 – 41556ARM 4Add
BLAST
Repeati416 – 46348ARM 5Add
BLAST
Repeati525 – 55632ARM 6Add
BLAST
Repeati557 – 60347ARM 7Add
BLAST
Repeati604 – 64946ARM 8Add
BLAST
Repeati650 – 71364ARM 9Add
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG262883.
GeneTreeiENSGT00760000119167.
HOGENOMiHOG000060193.
HOVERGENiHBG096389.
InParanoidiQ13835.
KOiK10387.
OMAiNYGTTSR.
OrthoDBiEOG7QVM31.
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. 1 hit.
PTHR10372:SF3. PTHR10372:SF3. 1 hit.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti154 – 1541R → G in CAA55881. (PubMed:7527055)Curated
Sequence conflicti216 – 2227PPISCNK → RHLLQQ in CAA55881. (PubMed:7527055)Curated
Sequence conflicti462 – 4621V → E in CAA55881. (PubMed:7527055)Curated
Sequence conflicti496 – 4961Q → K in CAA55881. (PubMed:7527055)Curated
Sequence conflicti506 – 5061T → P in CAA55881. (PubMed:7527055)Curated
Sequence conflicti553 – 5531L → S in CAA55881. (PubMed:7527055)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti116 – 1161R → H.
Corresponds to variant rs34626929 [ dbSNP | Ensembl ].
VAR_033526
Natural varianti161 – 1611C → Y.
Corresponds to variant rs34704938 [ dbSNP | Ensembl ].
VAR_033527
Natural varianti196 – 1961I → V.
Corresponds to variant rs35507614 [ dbSNP | Ensembl ].
VAR_033528
Natural varianti415 – 4151G → D.
Corresponds to variant rs1626370 [ dbSNP | Ensembl ].
VAR_053811
Natural varianti463 – 4631A → V.
Corresponds to variant rs10920171 [ dbSNP | Ensembl ].
VAR_062171

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei412 – 43221Missing in isoform 1. 3 PublicationsVSP_006735Add
BLAST

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]
uc001gwe.3. human. [Q13835-2]

Polymorphism databases

DMDMi20138951.

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 .
CCDSi CCDS30966.1. [Q13835-1 ]
CCDS30967.1. [Q13835-2 ]
PIRi S60712.
RefSeqi NP_000290.2. NM_000299.3. [Q13835-1 ]
NP_001005337.1. NM_001005337.2. [Q13835-2 ]
UniGenei Hs.497350.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1XM9 X-ray 2.80 A 244-721 [» ]
ProteinModelPortali Q13835.
SMRi Q13835. Positions 244-721.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111334. 25 interactions.
IntActi Q13835. 13 interactions.
STRINGi 9606.ENSP00000263946.

PTM databases

PhosphoSitei Q13835.

Polymorphism databases

DMDMi 20138951.

Proteomic databases

MaxQBi Q13835.
PaxDbi Q13835.
PRIDEi Q13835.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263946 ; ENSP00000263946 ; ENSG00000081277 . [Q13835-1 ]
ENST00000352845 ; ENSP00000295597 ; ENSG00000081277 . [Q13835-1 ]
ENST00000367324 ; ENSP00000356293 ; ENSG00000081277 . [Q13835-2 ]
GeneIDi 5317.
KEGGi hsa:5317.
UCSCi uc001gwd.3. human. [Q13835-1 ]
uc001gwe.3. human. [Q13835-2 ]

Organism-specific databases

CTDi 5317.
GeneCardsi GC01P201252.
HGNCi HGNC:9023. PKP1.
HPAi HPA027221.
HPA027589.
MIMi 601975. gene.
604536. phenotype.
neXtProti NX_Q13835.
Orphaneti 158668. Epidermolysis bullosa simplex due to plakophilin deficiency.
PharmGKBi PA33356.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG262883.
GeneTreei ENSGT00760000119167.
HOGENOMi HOG000060193.
HOVERGENi HBG096389.
InParanoidi Q13835.
KOi K10387.
OMAi NYGTTSR.
OrthoDBi EOG7QVM31.
PhylomeDBi Q13835.
TreeFami TF321877.

Enzyme and pathway databases

Reactomei REACT_13579. Apoptotic cleavage of cell adhesion proteins.
SignaLinki Q13835.

Miscellaneous databases

ChiTaRSi PKP1. human.
EvolutionaryTracei Q13835.
GeneWikii PKP1.
GenomeRNAii 5317.
NextBioi 20566.
PROi Q13835.
SOURCEi Search...

Gene expression databases

Bgeei Q13835.
CleanExi HS_PKP1.
ExpressionAtlasi Q13835. baseline and differential.
Genevestigatori Q13835.

Family and domain databases

Gene3Di 1.25.10.10. 2 hits.
InterProi IPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
IPR028432. Plakophilin-1.
IPR028435. Plakophilin/d_Catenin.
[Graphical view ]
PANTHERi PTHR10372. PTHR10372. 1 hit.
PTHR10372:SF3. PTHR10372:SF3. 1 hit.
Pfami PF00514. Arm. 1 hit.
[Graphical view ]
SMARTi SM00185. ARM. 6 hits.
[Graphical view ]
SUPFAMi SSF48371. SSF48371. 1 hit.
PROSITEi PS50176. ARM_REPEAT. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

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 26, 2014
This is version 137 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

External Data

Dasty 3