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Q13835

- PKP1_HUMAN

UniProt

Q13835 - PKP1_HUMAN

Protein

Plakophilin-1

Gene

PKP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 2 (23 Jan 2002)
      Previous versions | rss
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    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. protein binding Source: BHF-UCL
    4. signal transducer activity Source: ProtInc
    5. 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

    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

    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

    ArrayExpressiQ13835.
    BgeeiQ13835.
    CleanExiHS_PKP1.
    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. 16 interactions.
    IntActiQ13835. 13 interactions.
    STRINGi9606.ENSP00000263946.

    Structurei

    Secondary structure

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

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

    MNHSPLKTAL AYECFQDQDN STLALPSDQK MKTGTSGRQR VQEQVMMTVK    50
    RQKSKSSQSS TLSHSNRGSM YDGLADNYNY GTTSRSSYYS KFQAGNGSWG 100
    YPIYNGTLKR EPDNRRFSSY SQMENWSRHY PRGSCNTTGA GSDICFMQKI 150
    KASRSEPDLY CDPRGTLRKG TLGSKGQKTT QNRYSFYSTC SGQKAIKKCP 200
    VRPPSCASKQ DPVYIPPISC NKDLSFGHSR ASSKICSEDI ECSGLTIPKA 250
    VQYLSSQDEK YQAIGAYYIQ HTCFQDESAK QQVYQLGGIC KLVDLLRSPN 300
    QNVQQAAAGA LRNLVFRSTT NKLETRRQNG IREAVSLLRR TGNAEIQKQL 350
    TGLLWNLSST DELKEELIAD ALPVLADRVI IPFSGWCDGN SNMSREVVDP 400
    EVFFNATGCL RKRLGMRELL ALVPQRATSS RVNLSSADAG RQTMRNYSGL 450
    IDSLMAYVQN CVAASRCDDK SVENCMCVLH NLSYRLDAEV PTRYRQLEYN 500
    ARNAYTEKSS TGCFSNKSDK MMNNNYDCPL PEEETNPKGS GWLYHSDAIR 550
    TYLNLMGKSK KDATLEACAG ALQNLTASKG LMSSGMSQLI GLKEKGLPQI 600
    ARLLQSGNSD VVRSGASLLS NMSRHPLLHR VMGNQVFPEV TRLLTSHTGN 650
    TSNSEDILSS ACYTVRNLMA SQPQLAKQYF SSSMLNNIIN LCRSSASPKA 700
    AEAARLLLSD MWSSKELQGV LRQQGFDRNM LGTLAGANSL RNFTSRF 747
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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. 16 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.
    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

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

    Gene expression databases

    ArrayExpressi Q13835.
    Bgeei Q13835.
    CleanExi HS_PKP1.
    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

    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: October 1, 2014
    This is version 135 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