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P04259

- K2C6B_HUMAN

UniProt

P04259 - K2C6B_HUMAN

Protein

Keratin, type II cytoskeletal 6B

Gene

KRT6B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 146 (01 Oct 2014)
      Sequence version 5 (26 May 2009)
      Previous versions | rss
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    Functioni

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei414 – 4141Stutter

    GO - Molecular functioni

    1. structural constituent of cytoskeleton Source: ProtInc

    GO - Biological processi

    1. ectoderm development Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin, type II cytoskeletal 6B
    Alternative name(s):
    Cytokeratin-6B
    Short name:
    CK-6B
    Keratin-6B
    Short name:
    K6B
    Type-II keratin Kb10
    Gene namesi
    Name:KRT6B
    Synonyms:K6B, KRTL1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:6444. KRT6B.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. keratin filament Source: InterPro

    Keywords - Cellular componenti

    Intermediate filament, Keratin

    Pathology & Biotechi

    Involvement in diseasei

    Pachyonychia congenita 2 (PC2) [MIM:167210]: An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti472 – 4721E → K in PC2. 1 Publication
    Corresponds to variant rs60627726 [ dbSNP | Ensembl ].
    VAR_023062

    Keywords - Diseasei

    Disease mutation, Ectodermal dysplasia, Palmoplantar keratoderma

    Organism-specific databases

    MIMi167210. phenotype.
    Orphaneti2309. Pachyonychia congenita.
    PharmGKBiPA30232.

    Protein family/group databases

    Allergomei415. Hom s 5.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 564563Keratin, type II cytoskeletal 6BPRO_0000063732Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication
    Modified residuei60 – 601PhosphoserineBy similarity

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    PaxDbiP04259.
    PRIDEiP04259.

    PTM databases

    PhosphoSiteiP04259.

    Expressioni

    Tissue specificityi

    Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath.

    Gene expression databases

    BgeeiP04259.
    CleanExiHS_KRT6B.
    GenevestigatoriP04259.

    Organism-specific databases

    HPAiCAB000130.
    HPA045697.

    Interactioni

    Subunit structurei

    Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17.

    Protein-protein interaction databases

    BioGridi110052. 21 interactions.
    IntActiP04259. 7 interactions.
    MINTiMINT-1456452.
    STRINGi9606.ENSP00000252252.

    Structurei

    3D structure databases

    ProteinModelPortaliP04259.
    SMRiP04259. Positions 160-302, 329-471.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2 – 162161HeadAdd
    BLAST
    Regioni163 – 472310RodAdd
    BLAST
    Regioni163 – 19836Coil 1AAdd
    BLAST
    Regioni199 – 21719Linker 1Add
    BLAST
    Regioni218 – 30992Coil 1BAdd
    BLAST
    Regioni310 – 33324Linker 12Add
    BLAST
    Regioni334 – 472139Coil 2Add
    BLAST
    Regioni473 – 56492TailAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG315845.
    HOGENOMiHOG000230976.
    HOVERGENiHBG013015.
    InParanoidiP04259.
    KOiK07605.
    OMAiXSSAGSS.
    OrthoDBiEOG7FV3Q8.
    PhylomeDBiP04259.
    TreeFamiTF317854.

    Family and domain databases

    InterProiIPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR003054. Keratin_II.
    [Graphical view]
    PANTHERiPTHR23239. PTHR23239. 1 hit.
    PfamiPF00038. Filament. 1 hit.
    [Graphical view]
    PRINTSiPR01276. TYPE2KERATIN.
    PROSITEiPS00226. IF. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P04259-1 [UniParc]FASTAAdd to Basket

    « Hide

    MASTSTTIRS HSSSRRGFSA NSARLPGVSR SGFSSISVSR SRGSGGLGGA    50
    CGGAGFGSRS LYGLGGSKRI SIGGGSCAIS GGYGSRAGGS YGFGGAGSGF 100
    GFGGGAGIGF GLGGGAGLAG GFGGPGFPVC PPGGIQEVTV NQSLLTPLNL 150
    QIDPAIQRVR AEEREQIKTL NNKFASFIDK VRFLEQQNKV LDTKWTLLQE 200
    QGTKTVRQNL EPLFEQYINN LRRQLDNIVG ERGRLDSELR NMQDLVEDLK 250
    NKYEDEINKR TAAENEFVTL KKDVDAAYMN KVELQAKADT LTDEINFLRA 300
    LYDAELSQMQ THISDTSVVL SMDNNRNLDL DSIIAEVKAQ YEEIAQRSRA 350
    EAESWYQTKY EELQITAGRH GDDLRNTKQE IAEINRMIQR LRSEIDHVKK 400
    QCANLQAAIA DAEQRGEMAL KDAKNKLEGL EDALQKAKQD LARLLKEYQE 450
    LMNVKLALDV EIATYRKLLE GEECRLNGEG VGQVNISVVQ STVSSGYGGA 500
    SGVGSGLGLG GGSSYSYGSG LGVGGGFSSS SGRATGGGLS SVGGGSSTIK 550
    YTTTSSSSRK SYKH 564
    Length:564
    Mass (Da):60,067
    Last modified:May 26, 2009 - v5
    Checksum:iFFA4C351FBF09F09
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti89 – 902GS → AG in AAA59466. (PubMed:2410904)Curated
    Sequence conflicti116 – 1172AG → PA in AAA59466. (PubMed:2410904)Curated
    Sequence conflicti119 – 1213AGG → LC in AAA59466. (PubMed:2410904)Curated
    Sequence conflicti159 – 1602VR → IG in AAA59466. (PubMed:2410904)Curated
    Sequence conflicti255 – 2551D → V in AAA59466. (PubMed:2410904)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti21 – 211N → S.2 Publications
    Corresponds to variant rs428894 [ dbSNP | Ensembl ].
    VAR_021265
    Natural varianti227 – 2271N → S.2 Publications
    Corresponds to variant rs652423 [ dbSNP | Ensembl ].
    VAR_021266
    Natural varianti365 – 3651I → V.2 Publications
    Corresponds to variant rs437014 [ dbSNP | Ensembl ].
    VAR_021267
    Natural varianti472 – 4721E → K in PC2. 1 Publication
    Corresponds to variant rs60627726 [ dbSNP | Ensembl ].
    VAR_023062

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L42592
    , L42584, L42585, L42586, L42587, L42588, L42589, L42590 Genomic DNA. Translation: AAC41768.1.
    L42612 mRNA. Translation: AAC41771.1.
    L00205
    , M11229, L00198, L00199, L00200, L00201, L00202, L00203, L00204 Genomic DNA. Translation: AAA59466.1.
    AC055736 Genomic DNA. No translation available.
    BC034535 mRNA. Translation: AAH34535.1.
    CCDSiCCDS8828.1.
    PIRiI61767. KRHUEB.
    I61771.
    RefSeqiNP_005546.2. NM_005555.3.
    UniGeneiHs.708950.

    Genome annotation databases

    EnsembliENST00000252252; ENSP00000252252; ENSG00000185479.
    GeneIDi3854.
    KEGGihsa:3854.
    UCSCiuc001sak.3. human.

    Polymorphism databases

    DMDMi238054404.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Human Intermediate Filament Mutation Database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L42592
    , L42584 , L42585 , L42586 , L42587 , L42588 , L42589 , L42590 Genomic DNA. Translation: AAC41768.1 .
    L42612 mRNA. Translation: AAC41771.1 .
    L00205
    , M11229 , L00198 , L00199 , L00200 , L00201 , L00202 , L00203 , L00204 Genomic DNA. Translation: AAA59466.1 .
    AC055736 Genomic DNA. No translation available.
    BC034535 mRNA. Translation: AAH34535.1 .
    CCDSi CCDS8828.1.
    PIRi I61767. KRHUEB.
    I61771.
    RefSeqi NP_005546.2. NM_005555.3.
    UniGenei Hs.708950.

    3D structure databases

    ProteinModelPortali P04259.
    SMRi P04259. Positions 160-302, 329-471.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110052. 21 interactions.
    IntActi P04259. 7 interactions.
    MINTi MINT-1456452.
    STRINGi 9606.ENSP00000252252.

    Protein family/group databases

    Allergomei 415. Hom s 5.

    PTM databases

    PhosphoSitei P04259.

    Polymorphism databases

    DMDMi 238054404.

    Proteomic databases

    PaxDbi P04259.
    PRIDEi P04259.

    Protocols and materials databases

    DNASUi 3854.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000252252 ; ENSP00000252252 ; ENSG00000185479 .
    GeneIDi 3854.
    KEGGi hsa:3854.
    UCSCi uc001sak.3. human.

    Organism-specific databases

    CTDi 3854.
    GeneCardsi GC12M052840.
    GeneReviewsi KRT6B.
    HGNCi HGNC:6444. KRT6B.
    HPAi CAB000130.
    HPA045697.
    MIMi 148042. gene.
    167210. phenotype.
    neXtProti NX_P04259.
    Orphaneti 2309. Pachyonychia congenita.
    PharmGKBi PA30232.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG315845.
    HOGENOMi HOG000230976.
    HOVERGENi HBG013015.
    InParanoidi P04259.
    KOi K07605.
    OMAi XSSAGSS.
    OrthoDBi EOG7FV3Q8.
    PhylomeDBi P04259.
    TreeFami TF317854.

    Miscellaneous databases

    GenomeRNAii 3854.
    NextBioi 15165.
    PROi P04259.
    SOURCEi Search...

    Gene expression databases

    Bgeei P04259.
    CleanExi HS_KRT6B.
    Genevestigatori P04259.

    Family and domain databases

    InterProi IPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR003054. Keratin_II.
    [Graphical view ]
    PANTHERi PTHR23239. PTHR23239. 1 hit.
    Pfami PF00038. Filament. 1 hit.
    [Graphical view ]
    PRINTSi PR01276. TYPE2KERATIN.
    PROSITEi PS00226. IF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms."
      Takahashi K., Paladini R.D., Coulombe P.A.
      J. Biol. Chem. 270:18581-18592(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-21; SER-227 AND VAL-365.
      Tissue: Skin.
    2. "The sequence of a type II keratin gene expressed in human skin: conservation of structure among all intermediate filament genes."
      Tyner A.L., Eichman M.J., Fuchs E.
      Proc. Natl. Acad. Sci. U.S.A. 82:4683-4687(1985) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-21; SER-227 AND VAL-365.
    3. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      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].
      Tissue: Skin.
    5. Bienvenut W.V., Vousden K.H., Lukashchuk N.
      Submitted (MAR-2008) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 2-9; 16-24; 31-40; 43-86; 169-189; 195-204; 208-369; 376-386; 425-436; 456-475 AND 534-550, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Lung carcinoma.
    6. "Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes."
      Rasmussen H.H., van Damme J., Puype M., Gesser B., Celis J.E., Vandekerckhove J.
      Electrophoresis 13:960-969(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 195-203 AND 350-356.
      Tissue: Keratinocyte.
    7. "A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2."
      Smith F.J.D., Jonkman M.F., van Goor H., Coleman C.M., Covello S.P., Uitto J., McLean W.H.I.
      Hum. Mol. Genet. 7:1143-1148(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PC2 LYS-472.

    Entry informationi

    Entry nameiK2C6B_HUMAN
    AccessioniPrimary (citable) accession number: P04259
    Secondary accession number(s): P48669
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 1987
    Last sequence update: May 26, 2009
    Last modified: October 1, 2014
    This is version 146 of the entry and version 5 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 at least six isoforms of human type II keratin-6 (K6).
    There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: 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