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P35527

- K1C9_HUMAN

UniProt

P35527 - K1C9_HUMAN

Protein

Keratin, type I cytoskeletal 9

Gene

KRT9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 147 (01 Oct 2014)
      Sequence version 3 (16 Jun 2009)
      Previous versions | rss
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    Functioni

    May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly.2 Publications

    GO - Molecular functioni

    1. structural constituent of cytoskeleton Source: ProtInc

    GO - Biological processi

    1. epidermis development Source: ProtInc
    2. intermediate filament organization Source: UniProtKB
    3. skin development Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin, type I cytoskeletal 9
    Alternative name(s):
    Cytokeratin-9
    Short name:
    CK-9
    Keratin-9
    Short name:
    K9
    Gene namesi
    Name:KRT9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:6447. KRT9.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular space Source: UniProt
    2. extracellular vesicular exosome Source: UniProt
    3. intermediate filament Source: UniProtKB-KW
    4. membrane Source: UniProtKB
    5. nucleus Source: UniProt

    Keywords - Cellular componenti

    Intermediate filament, Keratin

    Pathology & Biotechi

    Involvement in diseasei

    Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]: A dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints.20 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti157 – 1571M → R in EPPK. 1 Publication
    VAR_036805
    Natural varianti157 – 1571M → T in EPPK. 1 Publication
    Corresponds to variant rs59510579 [ dbSNP | Ensembl ].
    VAR_010499
    Natural varianti157 – 1571M → V in EPPK. 3 Publications
    Corresponds to variant rs58597584 [ dbSNP | Ensembl ].
    VAR_010500
    Natural varianti160 – 1601L → F in EPPK; with knuckle pads. 1 Publication
    Corresponds to variant rs28940896 [ dbSNP | Ensembl ].
    VAR_035438
    Natural varianti160 – 1601L → V in EPPK. 1 Publication
    VAR_010501
    Natural varianti161 – 1611N → H in EPPK. 2 Publications
    VAR_036806
    Natural varianti161 – 1611N → I in EPPK. 2 Publications
    VAR_036807
    Natural varianti161 – 1611N → K in EPPK. 1 Publication
    Corresponds to variant rs57536312 [ dbSNP | Ensembl ].
    VAR_003822
    Natural varianti161 – 1611N → S in EPPK. 2 Publications
    Corresponds to variant rs56707768 [ dbSNP | Ensembl ].
    VAR_010502
    Natural varianti161 – 1611N → Y in EPPK. 1 Publication
    Corresponds to variant rs59296273 [ dbSNP | Ensembl ].
    VAR_010503
    Natural varianti163 – 1631R → P in EPPK. 1 Publication
    VAR_036808
    Natural varianti163 – 1631R → Q in EPPK. 5 Publications
    Corresponds to variant rs57758262 [ dbSNP | Ensembl ].
    VAR_003823
    Natural varianti163 – 1631R → W in EPPK. 5 Publications
    Corresponds to variant rs59616921 [ dbSNP | Ensembl ].
    VAR_003824
    Natural varianti167 – 1671Y → WL in EPPK.
    VAR_036809
    Natural varianti168 – 1681L → S in EPPK. 1 Publication
    Corresponds to variant rs61157095 [ dbSNP | Ensembl ].
    VAR_003825
    Natural varianti171 – 1711V → M in EPPK. 1 Publication
    Corresponds to variant rs57019720 [ dbSNP | Ensembl ].
    VAR_035439
    Natural varianti172 – 1721Q → P in EPPK. 1 Publication
    Corresponds to variant rs59878153 [ dbSNP | Ensembl ].
    VAR_010504
    Natural varianti458 – 4581L → F in EPPK. 1 Publication
    Corresponds to variant rs58120120 [ dbSNP | Ensembl ].
    VAR_036810

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi163 – 1631R → QHA: Leads to aggregate formation. 1 Publication

    Keywords - Diseasei

    Disease mutation, Palmoplantar keratoderma

    Organism-specific databases

    MIMi144200. phenotype.
    149100. phenotype.
    Orphaneti2199. Epidermolytic palmoplantar keratoderma.
    PharmGKBiPA30235.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 623623Keratin, type I cytoskeletal 9PRO_0000063640Add
    BLAST

    Proteomic databases

    MaxQBiP35527.
    PaxDbiP35527.
    PeptideAtlasiP35527.
    PRIDEiP35527.
    ProMEXiP35527.

    2D gel databases

    DOSAC-COBS-2DPAGEP35527.

    PTM databases

    PhosphoSiteiP35527.

    Expressioni

    Tissue specificityi

    Expressed in the terminally differentiated epidermis of palms and soles.1 Publication

    Inductioni

    Induced by intrinsic regulatory mechanisms and by extrinsic signals from a subset of dermal palmoplantar fibroblasts.1 Publication

    Gene expression databases

    ArrayExpressiP35527.
    BgeeiP35527.
    CleanExiHS_KRT9.
    GenevestigatoriP35527.

    Organism-specific databases

    HPAiHPA007261.
    HPA009673.

    Interactioni

    Subunit structurei

    Heterotetramer of two type I and two type II keratins.

    Protein-protein interaction databases

    BioGridi110055. 44 interactions.
    IntActiP35527. 19 interactions.
    MINTiMINT-4998976.
    STRINGi9606.ENSP00000246662.

    Structurei

    3D structure databases

    ProteinModelPortaliP35527.
    SMRiP35527. Positions 160-188, 204-302, 318-460.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 152152HeadAdd
    BLAST
    Regioni153 – 461309RodAdd
    BLAST
    Regioni153 – 18836Coil 1AAdd
    BLAST
    Regioni189 – 20719Linker 1Add
    BLAST
    Regioni208 – 29992Coil 1BAdd
    BLAST
    Regioni300 – 32223Linker 12Add
    BLAST
    Regioni323 – 461139Coil 2Add
    BLAST
    Regioni462 – 623162TailAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi15 – 2612Poly-GlyAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG148410.
    HOGENOMiHOG000230975.
    HOVERGENiHBG013015.
    InParanoidiP35527.
    KOiK07604.
    OMAiEMQYETL.
    OrthoDBiEOG7FV3Q8.
    PhylomeDBiP35527.
    TreeFamiTF332742.

    Family and domain databases

    InterProiIPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR002957. Keratin_I.
    [Graphical view]
    PANTHERiPTHR23239. PTHR23239. 1 hit.
    PfamiPF00038. Filament. 1 hit.
    [Graphical view]
    PRINTSiPR01248. TYPE1KERATIN.
    PROSITEiPS00226. IF. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P35527-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSCRQFSSSY LSRSGGGGGG GLGSGGSIRS SYSRFSSSGG GGGGGRFSSS    50
    SGYGGGSSRV CGRGGGGSFG YSYGGGSGGG FSASSLGGGF GGGSRGFGGA 100
    SGGGYSSSGG FGGGFGGGSG GGFGGGYGSG FGGFGGFGGG AGGGDGGILT 150
    ANEKSTMQEL NSRLASYLDK VQALEEANND LENKIQDWYD KKGPAAIQKN 200
    YSPYYNTIDD LKDQIVDLTV GNNKTLLDID NTRMTLDDFR IKFEMEQNLR 250
    QGVDADINGL RQVLDNLTME KSDLEMQYET LQEELMALKK NHKEEMSQLT 300
    GQNSGDVNVE INVAPGKDLT KTLNDMRQEY EQLIAKNRKD IENQYETQIT 350
    QIEHEVSSSG QEVQSSAKEV TQLRHGVQEL EIELQSQLSK KAALEKSLED 400
    TKNRYCGQLQ MIQEQISNLE AQITDVRQEI ECQNQEYSLL LSIKMRLEKE 450
    IETYHNLLEG GQEDFESSGA GKIGLGGRGG SGGSYGRGSR GGSGGSYGGG 500
    GSGGGYGGGS GSRGGSGGSY GGGSGSGGGS GGGYGGGSGG GHSGGSGGGH 550
    SGGSGGNYGG GSGSGGGSGG GYGGGSGSRG GSGGSHGGGS GFGGESGGSY 600
    GGGEEASGSG GGYGGGSGKS SHS 623
    Length:623
    Mass (Da):62,064
    Last modified:June 16, 2009 - v3
    Checksum:i45C833749B63873D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti12 – 132SR → T in AAC60619. (PubMed:7507869)Curated
    Sequence conflicti12 – 132SR → T in CAA52924. (PubMed:7512862)Curated
    Sequence conflicti41 – 411G → R in AAC60619. (PubMed:7507869)Curated
    Sequence conflicti41 – 411G → R in CAA82315. (PubMed:7507869)Curated
    Sequence conflicti41 – 411G → R in CAA52924. (PubMed:7512862)Curated
    Sequence conflicti134 – 1341F → L in AAC60619. (PubMed:7507869)Curated
    Sequence conflicti134 – 1341F → L in CAA82315. (PubMed:7507869)Curated
    Sequence conflicti134 – 1341F → L in CAA52924. (PubMed:7512862)Curated
    Sequence conflicti157 – 17014MQELN…SYLDK → HLGAGSTPITASQP in AAI21171. (PubMed:15489334)CuratedAdd
    BLAST

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti157 – 1571M → R in EPPK. 1 Publication
    VAR_036805
    Natural varianti157 – 1571M → T in EPPK. 1 Publication
    Corresponds to variant rs59510579 [ dbSNP | Ensembl ].
    VAR_010499
    Natural varianti157 – 1571M → V in EPPK. 3 Publications
    Corresponds to variant rs58597584 [ dbSNP | Ensembl ].
    VAR_010500
    Natural varianti160 – 1601L → F in EPPK; with knuckle pads. 1 Publication
    Corresponds to variant rs28940896 [ dbSNP | Ensembl ].
    VAR_035438
    Natural varianti160 – 1601L → V in EPPK. 1 Publication
    VAR_010501
    Natural varianti161 – 1611N → H in EPPK. 2 Publications
    VAR_036806
    Natural varianti161 – 1611N → I in EPPK. 2 Publications
    VAR_036807
    Natural varianti161 – 1611N → K in EPPK. 1 Publication
    Corresponds to variant rs57536312 [ dbSNP | Ensembl ].
    VAR_003822
    Natural varianti161 – 1611N → S in EPPK. 2 Publications
    Corresponds to variant rs56707768 [ dbSNP | Ensembl ].
    VAR_010502
    Natural varianti161 – 1611N → Y in EPPK. 1 Publication
    Corresponds to variant rs59296273 [ dbSNP | Ensembl ].
    VAR_010503
    Natural varianti163 – 1631R → P in EPPK. 1 Publication
    VAR_036808
    Natural varianti163 – 1631R → Q in EPPK. 5 Publications
    Corresponds to variant rs57758262 [ dbSNP | Ensembl ].
    VAR_003823
    Natural varianti163 – 1631R → W in EPPK. 5 Publications
    Corresponds to variant rs59616921 [ dbSNP | Ensembl ].
    VAR_003824
    Natural varianti167 – 1671Y → WL in EPPK.
    VAR_036809
    Natural varianti168 – 1681L → S in EPPK. 1 Publication
    Corresponds to variant rs61157095 [ dbSNP | Ensembl ].
    VAR_003825
    Natural varianti171 – 1711V → M in EPPK. 1 Publication
    Corresponds to variant rs57019720 [ dbSNP | Ensembl ].
    VAR_035439
    Natural varianti172 – 1721Q → P in EPPK. 1 Publication
    Corresponds to variant rs59878153 [ dbSNP | Ensembl ].
    VAR_010504
    Natural varianti458 – 4581L → F in EPPK. 1 Publication
    Corresponds to variant rs58120120 [ dbSNP | Ensembl ].
    VAR_036810

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z29074 mRNA. Translation: CAA82315.1.
    S69510 mRNA. Translation: AAC60619.1.
    X75015 Genomic DNA. Translation: CAA52924.1.
    AC019349 Genomic DNA. No translation available.
    AB001594 mRNA. Translation: BAA19418.1.
    BC121170 mRNA. Translation: AAI21171.1.
    CCDSiCCDS32654.1.
    PIRiI37984.
    RefSeqiNP_000217.2. NM_000226.3.
    UniGeneiHs.654569.

    Genome annotation databases

    EnsembliENST00000246662; ENSP00000246662; ENSG00000171403.
    GeneIDi3857.
    KEGGihsa:3857.
    UCSCiuc002hxe.4. human.

    Polymorphism databases

    DMDMi239938886.

    Cross-referencesi

    Web resourcesi

    Human Intermediate Filament Mutation Database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z29074 mRNA. Translation: CAA82315.1 .
    S69510 mRNA. Translation: AAC60619.1 .
    X75015 Genomic DNA. Translation: CAA52924.1 .
    AC019349 Genomic DNA. No translation available.
    AB001594 mRNA. Translation: BAA19418.1 .
    BC121170 mRNA. Translation: AAI21171.1 .
    CCDSi CCDS32654.1.
    PIRi I37984.
    RefSeqi NP_000217.2. NM_000226.3.
    UniGenei Hs.654569.

    3D structure databases

    ProteinModelPortali P35527.
    SMRi P35527. Positions 160-188, 204-302, 318-460.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110055. 44 interactions.
    IntActi P35527. 19 interactions.
    MINTi MINT-4998976.
    STRINGi 9606.ENSP00000246662.

    PTM databases

    PhosphoSitei P35527.

    Polymorphism databases

    DMDMi 239938886.

    2D gel databases

    DOSAC-COBS-2DPAGE P35527.

    Proteomic databases

    MaxQBi P35527.
    PaxDbi P35527.
    PeptideAtlasi P35527.
    PRIDEi P35527.
    ProMEXi P35527.

    Protocols and materials databases

    DNASUi 3857.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000246662 ; ENSP00000246662 ; ENSG00000171403 .
    GeneIDi 3857.
    KEGGi hsa:3857.
    UCSCi uc002hxe.4. human.

    Organism-specific databases

    CTDi 3857.
    GeneCardsi GC17M039722.
    H-InvDB HIX0039018.
    HGNCi HGNC:6447. KRT9.
    HPAi HPA007261.
    HPA009673.
    MIMi 144200. phenotype.
    149100. phenotype.
    607606. gene.
    neXtProti NX_P35527.
    Orphaneti 2199. Epidermolytic palmoplantar keratoderma.
    PharmGKBi PA30235.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG148410.
    HOGENOMi HOG000230975.
    HOVERGENi HBG013015.
    InParanoidi P35527.
    KOi K07604.
    OMAi EMQYETL.
    OrthoDBi EOG7FV3Q8.
    PhylomeDBi P35527.
    TreeFami TF332742.

    Miscellaneous databases

    GeneWikii Keratin_9.
    GenomeRNAii 3857.
    NextBioi 15177.
    PROi P35527.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P35527.
    Bgeei P35527.
    CleanExi HS_KRT9.
    Genevestigatori P35527.

    Family and domain databases

    InterProi IPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR002957. Keratin_I.
    [Graphical view ]
    PANTHERi PTHR23239. PTHR23239. 1 hit.
    Pfami PF00038. Filament. 1 hit.
    [Graphical view ]
    PRINTSi PR01248. TYPE1KERATIN.
    PROSITEi PS00226. IF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression."
      Langbein L., Heid H.W., Moll I., Franke W.W.
      Differentiation 55:57-72(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE, FUNCTION, TISSUE SPECIFICITY.
      Tissue: Foot sole tissue.
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS EPPK LYS-161; GLN-163 AND TRP-163.
    3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Bienvenut W.V.
      Submitted (AUG-2005) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 14-29, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Cervix carcinoma.
    5. "Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation."
      Kobayashi S., Tanaka T., Matsuyoshi N., Imamura S.
      FEBS Lett. 386:149-155(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 147-372, VARIANT EPPK GLN-163.
    6. "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] OF 157-623.
    7. Cited for: PROTEIN SEQUENCE OF 450-466.
    8. "Demonstration of the pathogenic effect of point mutated keratin 9 in vivo."
      Kobayashi S., Kore-eda S., Tanaka T.
      FEBS Lett. 447:39-43(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, MUTAGENESIS OF ARG-163.
    9. "Regulation of keratin 9 in nonpalmoplantar keratinocytes by palmoplantar fibroblasts through epithelial-mesenchymal interactions."
      Yamaguchi Y., Itami S., Tarutani M., Hosokawa K., Miura H., Yoshikawa K.
      J. Invest. Dermatol. 112:483-488(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma."
      Hennies H.-C., Zehender D., Kunze J., Kuester W., Reis A.
      Hum. Genet. 93:649-654(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EPPK VAL-157 AND PRO-172.
    13. "Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis."
      Bonifas J.M., Matsumura K., Chen M.A., Berth-Jones J., Hutchinson P.E., Zloczower M., Fritsch P.O., Epstein E.H. Jr.
      J. Invest. Dermatol. 103:474-477(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EPPK SER-161.
    14. "Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer."
      Torchard D., Blanchet-Bardon C., Serova O., Langbein L., Narod S., Janin N., Goguel A.F., Bernheim A., Franke W.W., Lenoir G.M., Feunteun J.
      Nat. Genet. 6:106-110(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EPPK TYR-161.
    15. "Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma."
      Rothnagel J.A., Wojcik S., Liefer K.M., Dominey A.M., Huber M., Hohl D., Roop D.R.
      J. Invest. Dermatol. 104:430-433(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EPPK TRP-163 AND SER-168.
    16. "A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma."
      Endo H., Hatamochi A., Shinkai H.
      J. Invest. Dermatol. 109:113-115(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EPPK VAL-160.
    17. "Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland."
      Covello S.P., Irvine A.D., McKenna K.E., Munro C.S., Nevin N.C., Smith F.J.D., Uitto J., McLean W.H.I.
      J. Invest. Dermatol. 111:1207-1209(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EPPK THR-157; VAL-157 AND GLN-163.
    18. "Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma."
      Szalai S., Szalai C., Becker K., Torok E.
      Pediatr. Dermatol. 16:430-435(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EPPK GLN-163 AND STOP-170.
    19. "Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene."
      Warmuth I., Cserhalmi-Friedman P.B., Schneiderman P., Grossman M.E., Christiano A.M.
      Clin. Exp. Dermatol. 25:244-246(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EPPK TRP-163.
    20. "Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's original family and identification of a novel keratin 9 mutation."
      Kuster W., Reis A., Hennies H.C.
      Arch. Dermatol. Res. 294:268-272(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EPPK ILE-161.
    21. "Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography."
      Rugg E.L., Common J.E., Wilgoss A., Stevens H.P., Buchan J., Leigh I.M., Kelsell D.P.
      Br. J. Dermatol. 146:952-957(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EPPK VAL-157; TRP-163; GLN-163 AND MET-171.
    22. "Novel N160I mutation of keratin 9 in a large pedigree from Hungary with epidermolytic palmoplantar keratoderma."
      Csikos M., Hollo P., Becker K., Racz E., Horvath A., Karpati S.
      Acta Derm. Venereol. 83:303-305(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EPPK ILE-161.
    23. "A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads."
      Lu Y., Guo C., Liu Q., Zhang X., Cheng L., Li J., Chen B., Gao G., Zhou H., Guo Y., Li Y., Gong Y.
      Am. J. Med. Genet. A 120:345-349(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EPPK PHE-160.
    24. "Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma."
      Lee J.-H., Ahn K.-S., Lee C.-H., Youn S.-J., Kim J.-W., Lee D.-Y., Lee E.-S., Steinert P.M., Yang J.-M.
      Exp. Dermatol. 12:876-881(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EPPK HIS-161; SER-161 AND TRP-163.
    25. "A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma."
      He X.-H., Zhang X.-N., Mao W., Chen H.-P., Xu L.-R., Chen H., He X.-L., Le Y.-P.
      Br. J. Dermatol. 150:647-651(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EPPK TYR-167 DEL TRP-LEU INS.
    26. "A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma."
      Lin J.-H., Lin M.-H., Yang M.-H., Chao S.-C.
      Clin. Exp. Dermatol. 29:308-310(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EPPK HIS-161.
    27. "A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma."
      Kon A., Itagaki K., Yoneda K., Takagaki K.
      Arch. Dermatol. Res. 296:375-378(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EPPK PRO-163.
    28. "L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma."
      Kon A., Ito N., Kudo Y., Nomura K., Yoneda K., Hanada K., Hashimoto I., Takagaki K.
      Br. J. Dermatol. 155:624-626(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EPPK PHE-458.
    29. "A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma."
      Shimazu K., Tsunemi Y., Hattori N., Saeki H., Komine M., Adachi M., Tamaki K.
      Int. J. Dermatol. 45:1128-1130(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EPPK ARG-157.

    Entry informationi

    Entry nameiK1C9_HUMAN
    AccessioniPrimary (citable) accession number: P35527
    Secondary accession number(s): O00109, Q0IJ47, Q14665
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: June 16, 2009
    Last modified: October 1, 2014
    This is version 147 of the entry and version 3 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

    Miscellaneous

    There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

    Caution

    Was originally thought to be a 60 kDa chain of placental scatter protein.1 Publication

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3