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P02533

- K1C14_HUMAN

UniProt

P02533 - K1C14_HUMAN

Protein

Keratin, type I cytoskeletal 14

Gene

KRT14

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 167 (01 Oct 2014)
      Sequence version 4 (05 May 2009)
      Previous versions | rss
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    Functioni

    The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei364 – 3641Stutter

    GO - Molecular functioni

    1. keratin filament binding Source: UniProt
    2. protein binding Source: UniProtKB
    3. structural constituent of cytoskeleton Source: ProtInc

    GO - Biological processi

    1. aging Source: UniProt
    2. cell junction assembly Source: Reactome
    3. epidermis development Source: ProtInc
    4. epithelial cell differentiation Source: Ensembl
    5. hair cycle Source: UniProt
    6. hemidesmosome assembly Source: Reactome
    7. intermediate filament bundle assembly Source: UniProtKB
    8. response to ionizing radiation Source: Ensembl
    9. response to zinc ion Source: Ensembl

    Enzyme and pathway databases

    ReactomeiREACT_20537. Type I hemidesmosome assembly.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin, type I cytoskeletal 14
    Alternative name(s):
    Cytokeratin-14
    Short name:
    CK-14
    Keratin-14
    Short name:
    K14
    Gene namesi
    Name:KRT14
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:6416. KRT14.

    Subcellular locationi

    Cytoplasm. Nucleus
    Note: Expressed in both as a filamentous pattern.

    GO - Cellular componenti

    1. cell periphery Source: Ensembl
    2. cytoplasm Source: UniProtKB
    3. cytosol Source: Reactome
    4. extracellular vesicular exosome Source: UniProt
    5. intermediate filament Source: BHF-UCL
    6. keratin filament Source: MGI
    7. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Intermediate filament, Keratin, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]: A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement.18 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti119 – 1191M → T in DM-EBS. 2 Publications
    Corresponds to variant rs28928893 [ dbSNP | Ensembl ].
    VAR_010440
    Natural varianti120 – 1201Q → R in DM-EBS. 1 Publication
    Corresponds to variant rs60993843 [ dbSNP | Ensembl ].
    VAR_010441
    Natural varianti122 – 1221L → F in DM-EBS and K-EBS. 2 Publications
    Corresponds to variant rs59110575 [ dbSNP | Ensembl ].
    VAR_010442
    Natural varianti123 – 1231N → K in DM-EBS. 2 Publications
    Corresponds to variant rs3826549 [ dbSNP | Ensembl ].
    VAR_023720
    Natural varianti123 – 1231N → S in DM-EBS. 1 Publication
    Corresponds to variant rs60171927 [ dbSNP | Ensembl ].
    VAR_010443
    Natural varianti125 – 1251R → C in DM-EBS. 7 Publications
    Corresponds to variant rs60399023 [ dbSNP | Ensembl ].
    VAR_003837
    Natural varianti125 – 1251R → G in DM-EBS. 1 Publication
    VAR_023721
    Natural varianti125 – 1251R → H in DM-EBS. 7 Publications
    Corresponds to variant rs58330629 [ dbSNP | Ensembl ].
    VAR_003838
    Natural varianti125 – 1251R → S in DM-EBS. 1 Publication
    VAR_010444
    Natural varianti128 – 1281Missing in DM-EBS. 1 Publication
    VAR_031634
    Natural varianti129 – 1291Y → D in DM-EBS. 1 Publication
    Corresponds to variant rs60470268 [ dbSNP | Ensembl ].
    VAR_010445
    Natural varianti130 – 1301L → P in DM-EBS. 1 Publication
    Corresponds to variant rs57522245 [ dbSNP | Ensembl ].
    VAR_023722
    Natural varianti416 – 4161R → P in DM-EBS. 1 Publication
    VAR_031639
    Natural varianti417 – 4171R → P in DM-EBS. 1 Publication
    VAR_027721
    Natural varianti419 – 4191L → Q in DM-EBS. 3 Publications
    VAR_003845
    Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]: A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin.13 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti116 – 1161K → N in WC-EBS. 1 Publication
    Corresponds to variant rs59271739 [ dbSNP | Ensembl ].
    VAR_010438
    Natural varianti119 – 1191M → I in WC-EBS at heterozygosity; more severe phenotype is associated with homozygosity. 2 Publications
    Corresponds to variant rs57358989 [ dbSNP | Ensembl ].
    VAR_010439
    Natural varianti119 – 1191M → V in K-EBS and WC-EBS. 2 Publications
    Corresponds to variant rs61263401 [ dbSNP | Ensembl ].
    VAR_023719
    Natural varianti133 – 1331V → L in WC-EBS and K-EBS. 2 Publications
    Corresponds to variant rs61027685 [ dbSNP | Ensembl ].
    VAR_023723
    Natural varianti148 – 1481R → C in WC-EBS. 1 Publication
    Corresponds to variant rs58378809 [ dbSNP | Ensembl ].
    VAR_031636
    Natural varianti211 – 2111R → P in WC-EBS. 1 Publication
    Corresponds to variant rs60589227 [ dbSNP | Ensembl ].
    VAR_027718
    Natural varianti270 – 2701V → M in WC-EBS. 1 Publication
    Corresponds to variant rs58560979 [ dbSNP | Ensembl ].
    VAR_003840
    Natural varianti273 – 2731D → G in WC-EBS. 1 Publication
    Corresponds to variant rs59375065 [ dbSNP | Ensembl ].
    VAR_010448
    Natural varianti274 – 2741A → D in WC-EBS. 1 Publication
    Corresponds to variant rs58785777 [ dbSNP | Ensembl ].
    VAR_010449
    Natural varianti375 – 3751Missing in WC-EBS. 1 Publication
    VAR_003842
    Natural varianti377 – 3771I → N in WC-EBS. 1 Publication
    Corresponds to variant rs61536893 [ dbSNP | Ensembl ].
    VAR_010450
    Natural varianti388 – 3881R → C in WC-EBS. 1 Publication
    Corresponds to variant rs59966597 [ dbSNP | Ensembl ].
    VAR_010451
    Natural varianti388 – 3881R → H in WC-EBS. 1 Publication
    Corresponds to variant rs58645163 [ dbSNP | Ensembl ].
    VAR_031637
    Natural varianti408 – 4081L → M in WC-EBS. 1 Publication
    Corresponds to variant rs57200223 [ dbSNP | Ensembl ].
    VAR_023724
    Natural varianti411 – 4111Missing in WC-EBS. 1 Publication
    VAR_027720
    Natural varianti415 – 4151Y → C in WC-EBS. 1 Publication
    VAR_031638
    Natural varianti422 – 4221E → K in WC-EBS. 1 Publication
    VAR_010452
    Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]: A form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe.10 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti119 – 1191M → V in K-EBS and WC-EBS. 2 Publications
    Corresponds to variant rs61263401 [ dbSNP | Ensembl ].
    VAR_023719
    Natural varianti122 – 1221L → F in DM-EBS and K-EBS. 2 Publications
    Corresponds to variant rs59110575 [ dbSNP | Ensembl ].
    VAR_010442
    Natural varianti133 – 1331V → L in WC-EBS and K-EBS. 2 Publications
    Corresponds to variant rs61027685 [ dbSNP | Ensembl ].
    VAR_023723
    Natural varianti134 – 1341R → P in K-EBS. 1 Publication
    Corresponds to variant rs61540016 [ dbSNP | Ensembl ].
    VAR_031635
    Natural varianti143 – 1431L → P in K-EBS. 1 Publication
    Corresponds to variant rs61326242 [ dbSNP | Ensembl ].
    VAR_010446
    Natural varianti247 – 2471A → D in K-EBS. 1 Publication
    VAR_010447
    Natural varianti272 – 2721M → R in K-EBS. 1 Publication
    Corresponds to variant rs61371557 [ dbSNP | Ensembl ].
    VAR_003841
    Natural varianti272 – 2721M → T in K-EBS. 1 Publication
    VAR_027719
    Natural varianti384 – 3841L → P in K-EBS. 2 Publications
    Corresponds to variant rs59629244 [ dbSNP | Ensembl ].
    VAR_003843
    Natural varianti413 – 4131A → T in K-EBS. 1 Publication
    Corresponds to variant rs59780231 [ dbSNP | Ensembl ].
    VAR_023725
    Natural varianti415 – 4151Y → H in K-EBS. 3 Publications
    VAR_003844
    Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001]: An intraepidermal epidermolysis bullosa characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti144 – 1441E → A in EBSB1. 1 Publication
    Corresponds to variant rs57121345 [ dbSNP | Ensembl ].
    VAR_003839
    Naegeli-Franceschetti-Jadassohn syndrome (NFJS) [MIM:161000]: A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Dermatopathia pigmentosa reticularis (DPR) [MIM:125595]: A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation, Ectodermal dysplasia, Epidermolysis bullosa, Palmoplantar keratoderma

    Organism-specific databases

    MIMi125595. phenotype.
    131760. phenotype.
    131800. phenotype.
    131900. phenotype.
    161000. phenotype.
    601001. phenotype.
    Orphaneti89838. Autosomal recessive epidermolysis bullosa simplex.
    86920. Dermatopathia pigmentosa reticularis.
    79397. Epidermolysis bullosa simplex with mottled pigmentation.
    79396. Epidermolysis bullosa simplex, Dowling-Meara type.
    79399. Generalized epidermolysis bullosa simplex, non-Dowling-Meara type.
    79400. Localized epidermolysis bullosa simplex.
    69087. Naegeli-Franceschetti-Jadassohn syndrome.
    PharmGKBiPA30203.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 472472Keratin, type I cytoskeletal 14PRO_0000063653Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi367 – 367Interchain1 Publication

    Post-translational modificationi

    A disulfide bond is formed between rather than within filaments and promotes the formation of a keratin filament cage around the nucleus.

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    MaxQBiP02533.
    PaxDbiP02533.
    PRIDEiP02533.
    ProMEXiP02533.

    PTM databases

    PhosphoSiteiP02533.

    Expressioni

    Tissue specificityi

    Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair. Found in keratinocytes surrounding the club hair during telogen.1 Publication

    Gene expression databases

    ArrayExpressiP02533.
    BgeeiP02533.
    CleanExiHS_KRT14.
    GenevestigatoriP02533.

    Organism-specific databases

    HPAiCAB000134.
    HPA000452.
    HPA000453.
    HPA023040.

    Interactioni

    Subunit structurei

    Heterotetramer of two type I and two type II keratins. disulfide-linked keratin-14 associates with keratin-5. Interacts with TRADD and with keratin filaments. Associates with other type I keratins.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PKP1Q13835-22EBI-702178,EBI-9087684

    Protein-protein interaction databases

    BioGridi110059. 41 interactions.
    DIPiDIP-33874N.
    IntActiP02533. 19 interactions.
    STRINGi9606.ENSP00000167586.

    Structurei

    Secondary structure

    1
    472
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi333 – 41886

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3TNUX-ray3.00A295-422[»]
    ProteinModelPortaliP02533.
    SMRiP02533. Positions 165-263, 279-421.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 114114HeadAdd
    BLAST
    Regioni115 – 422308RodAdd
    BLAST
    Regioni115 – 15036Coil 1AAdd
    BLAST
    Regioni151 – 16818Linker 1Add
    BLAST
    Regioni169 – 26092Coil 1BAdd
    BLAST
    Regioni261 – 28323Linker 12Add
    BLAST
    Regioni284 – 422139Coil 2Add
    BLAST
    Regioni423 – 47250TailAdd
    BLAST
    Regioni425 – 47248Interaction with Type I keratins and keratin filamentsAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG148784.
    HOVERGENiHBG013015.
    InParanoidiP02533.
    KOiK07604.
    OMAiTMTTCSR.
    OrthoDBiEOG7FV3Q8.
    PhylomeDBiP02533.
    TreeFamiTF332742.

    Family and domain databases

    InterProiIPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR002957. Keratin_I.
    IPR009053. Prefoldin.
    [Graphical view]
    PANTHERiPTHR23239. PTHR23239. 1 hit.
    PfamiPF00038. Filament. 1 hit.
    [Graphical view]
    PRINTSiPR01248. TYPE1KERATIN.
    SUPFAMiSSF46579. SSF46579. 1 hit.
    PROSITEiPS00226. IF. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P02533-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTTCSRQFTS SSSMKGSCGI GGGIGGGSSR ISSVLAGGSC RAPSTYGGGL    50
    SVSSSRFSSG GACGLGGGYG GGFSSSSSSF GSGFGGGYGG GLGAGLGGGF 100
    GGGFAGGDGL LVGSEKVTMQ NLNDRLASYL DKVRALEEAN ADLEVKIRDW 150
    YQRQRPAEIK DYSPYFKTIE DLRNKILTAT VDNANVLLQI DNARLAADDF 200
    RTKYETELNL RMSVEADING LRRVLDELTL ARADLEMQIE SLKEELAYLK 250
    KNHEEEMNAL RGQVGGDVNV EMDAAPGVDL SRILNEMRDQ YEKMAEKNRK 300
    DAEEWFFTKT EELNREVATN SELVQSGKSE ISELRRTMQN LEIELQSQLS 350
    MKASLENSLE ETKGRYCMQL AQIQEMIGSV EEQLAQLRCE MEQQNQEYKI 400
    LLDVKTRLEQ EIATYRRLLE GEDAHLSSSQ FSSGSQSSRD VTSSSRQIRT 450
    KVMDVHDGKV VSTHEQVLRT KN 472
    Length:472
    Mass (Da):51,561
    Last modified:May 5, 2009 - v4
    Checksum:i120BA30BA2F8E397
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti26 – 261G → A(PubMed:6210150)Curated
    Sequence conflicti26 – 261G → A in AAB59562. (PubMed:2580298)Curated
    Sequence conflicti44 – 441S → N(PubMed:6210150)Curated
    Sequence conflicti44 – 441S → N in AAB59562. (PubMed:2580298)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti63 – 631C → Y.3 Publications
    Corresponds to variant rs6503640 [ dbSNP | Ensembl ].
    VAR_055347
    Natural varianti94 – 941A → T.3 Publications
    Corresponds to variant rs3826550 [ dbSNP | Ensembl ].
    VAR_010437
    Natural varianti116 – 1161K → N in WC-EBS. 1 Publication
    Corresponds to variant rs59271739 [ dbSNP | Ensembl ].
    VAR_010438
    Natural varianti119 – 1191M → I in WC-EBS at heterozygosity; more severe phenotype is associated with homozygosity. 2 Publications
    Corresponds to variant rs57358989 [ dbSNP | Ensembl ].
    VAR_010439
    Natural varianti119 – 1191M → T in DM-EBS. 2 Publications
    Corresponds to variant rs28928893 [ dbSNP | Ensembl ].
    VAR_010440
    Natural varianti119 – 1191M → V in K-EBS and WC-EBS. 2 Publications
    Corresponds to variant rs61263401 [ dbSNP | Ensembl ].
    VAR_023719
    Natural varianti120 – 1201Q → R in DM-EBS. 1 Publication
    Corresponds to variant rs60993843 [ dbSNP | Ensembl ].
    VAR_010441
    Natural varianti122 – 1221L → F in DM-EBS and K-EBS. 2 Publications
    Corresponds to variant rs59110575 [ dbSNP | Ensembl ].
    VAR_010442
    Natural varianti123 – 1231N → K in DM-EBS. 2 Publications
    Corresponds to variant rs3826549 [ dbSNP | Ensembl ].
    VAR_023720
    Natural varianti123 – 1231N → S in DM-EBS. 1 Publication
    Corresponds to variant rs60171927 [ dbSNP | Ensembl ].
    VAR_010443
    Natural varianti125 – 1251R → C in DM-EBS. 7 Publications
    Corresponds to variant rs60399023 [ dbSNP | Ensembl ].
    VAR_003837
    Natural varianti125 – 1251R → G in DM-EBS. 1 Publication
    VAR_023721
    Natural varianti125 – 1251R → H in DM-EBS. 7 Publications
    Corresponds to variant rs58330629 [ dbSNP | Ensembl ].
    VAR_003838
    Natural varianti125 – 1251R → S in DM-EBS. 1 Publication
    VAR_010444
    Natural varianti128 – 1281Missing in DM-EBS. 1 Publication
    VAR_031634
    Natural varianti129 – 1291Y → D in DM-EBS. 1 Publication
    Corresponds to variant rs60470268 [ dbSNP | Ensembl ].
    VAR_010445
    Natural varianti130 – 1301L → P in DM-EBS. 1 Publication
    Corresponds to variant rs57522245 [ dbSNP | Ensembl ].
    VAR_023722
    Natural varianti133 – 1331V → A.
    Corresponds to variant rs642601 [ dbSNP | Ensembl ].
    VAR_033496
    Natural varianti133 – 1331V → L in WC-EBS and K-EBS. 2 Publications
    Corresponds to variant rs61027685 [ dbSNP | Ensembl ].
    VAR_023723
    Natural varianti134 – 1341R → P in K-EBS. 1 Publication
    Corresponds to variant rs61540016 [ dbSNP | Ensembl ].
    VAR_031635
    Natural varianti143 – 1431L → P in K-EBS. 1 Publication
    Corresponds to variant rs61326242 [ dbSNP | Ensembl ].
    VAR_010446
    Natural varianti144 – 1441E → A in EBSB1. 1 Publication
    Corresponds to variant rs57121345 [ dbSNP | Ensembl ].
    VAR_003839
    Natural varianti148 – 1481R → C in WC-EBS. 1 Publication
    Corresponds to variant rs58378809 [ dbSNP | Ensembl ].
    VAR_031636
    Natural varianti211 – 2111R → P in WC-EBS. 1 Publication
    Corresponds to variant rs60589227 [ dbSNP | Ensembl ].
    VAR_027718
    Natural varianti215 – 2151E → K.
    Corresponds to variant rs11551755 [ dbSNP | Ensembl ].
    VAR_049784
    Natural varianti247 – 2471A → D in K-EBS. 1 Publication
    VAR_010447
    Natural varianti270 – 2701V → M in WC-EBS. 1 Publication
    Corresponds to variant rs58560979 [ dbSNP | Ensembl ].
    VAR_003840
    Natural varianti272 – 2721M → R in K-EBS. 1 Publication
    Corresponds to variant rs61371557 [ dbSNP | Ensembl ].
    VAR_003841
    Natural varianti272 – 2721M → T in K-EBS. 1 Publication
    VAR_027719
    Natural varianti273 – 2731D → G in WC-EBS. 1 Publication
    Corresponds to variant rs59375065 [ dbSNP | Ensembl ].
    VAR_010448
    Natural varianti274 – 2741A → D in WC-EBS. 1 Publication
    Corresponds to variant rs58785777 [ dbSNP | Ensembl ].
    VAR_010449
    Natural varianti375 – 3751Missing in WC-EBS. 1 Publication
    VAR_003842
    Natural varianti377 – 3771I → N in WC-EBS. 1 Publication
    Corresponds to variant rs61536893 [ dbSNP | Ensembl ].
    VAR_010450
    Natural varianti384 – 3841L → P in K-EBS. 2 Publications
    Corresponds to variant rs59629244 [ dbSNP | Ensembl ].
    VAR_003843
    Natural varianti388 – 3881R → C in WC-EBS. 1 Publication
    Corresponds to variant rs59966597 [ dbSNP | Ensembl ].
    VAR_010451
    Natural varianti388 – 3881R → H in WC-EBS. 1 Publication
    Corresponds to variant rs58645163 [ dbSNP | Ensembl ].
    VAR_031637
    Natural varianti408 – 4081L → M in WC-EBS. 1 Publication
    Corresponds to variant rs57200223 [ dbSNP | Ensembl ].
    VAR_023724
    Natural varianti411 – 4111Missing in WC-EBS. 1 Publication
    VAR_027720
    Natural varianti413 – 4131A → T in K-EBS. 1 Publication
    Corresponds to variant rs59780231 [ dbSNP | Ensembl ].
    VAR_023725
    Natural varianti415 – 4151Y → C in WC-EBS. 1 Publication
    VAR_031638
    Natural varianti415 – 4151Y → H in K-EBS. 3 Publications
    VAR_003844
    Natural varianti416 – 4161R → P in DM-EBS. 1 Publication
    VAR_031639
    Natural varianti417 – 4171R → P in DM-EBS. 1 Publication
    VAR_027721
    Natural varianti419 – 4191L → Q in DM-EBS. 3 Publications
    VAR_003845
    Natural varianti422 – 4221E → K in WC-EBS. 1 Publication
    VAR_010452

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J00124 Genomic DNA. Translation: AAB59562.1.
    BT007186 mRNA. Translation: AAP35850.1.
    AC019349 Genomic DNA. No translation available.
    BC002690 mRNA. Translation: AAH02690.1.
    BC019097 mRNA. Translation: AAH19097.1.
    BC042437 mRNA. Translation: AAH42437.1.
    BC094830 mRNA. Translation: AAH94830.1.
    D28807 Genomic DNA. Translation: BAA05967.1.
    AF186085 Genomic DNA. Translation: AAF04034.1.
    AF186086 Genomic DNA. Translation: AAF04035.1.
    AF186087 Genomic DNA. Translation: AAF04036.1.
    AF186088 Genomic DNA. Translation: AAF04037.1.
    AF186089 Genomic DNA. Translation: AAF04038.1.
    AF186090 Genomic DNA. Translation: AAF04039.1.
    CCDSiCCDS11400.1.
    PIRiA26763. KRHUE.
    RefSeqiNP_000517.2. NM_000526.4.
    UniGeneiHs.654380.

    Genome annotation databases

    EnsembliENST00000167586; ENSP00000167586; ENSG00000186847.
    GeneIDi3861.
    KEGGihsa:3861.
    UCSCiuc002hxf.2. human.

    Polymorphism databases

    DMDMi229463044.

    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
    J00124 Genomic DNA. Translation: AAB59562.1 .
    BT007186 mRNA. Translation: AAP35850.1 .
    AC019349 Genomic DNA. No translation available.
    BC002690 mRNA. Translation: AAH02690.1 .
    BC019097 mRNA. Translation: AAH19097.1 .
    BC042437 mRNA. Translation: AAH42437.1 .
    BC094830 mRNA. Translation: AAH94830.1 .
    D28807 Genomic DNA. Translation: BAA05967.1 .
    AF186085 Genomic DNA. Translation: AAF04034.1 .
    AF186086 Genomic DNA. Translation: AAF04035.1 .
    AF186087 Genomic DNA. Translation: AAF04036.1 .
    AF186088 Genomic DNA. Translation: AAF04037.1 .
    AF186089 Genomic DNA. Translation: AAF04038.1 .
    AF186090 Genomic DNA. Translation: AAF04039.1 .
    CCDSi CCDS11400.1.
    PIRi A26763. KRHUE.
    RefSeqi NP_000517.2. NM_000526.4.
    UniGenei Hs.654380.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3TNU X-ray 3.00 A 295-422 [» ]
    ProteinModelPortali P02533.
    SMRi P02533. Positions 165-263, 279-421.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110059. 41 interactions.
    DIPi DIP-33874N.
    IntActi P02533. 19 interactions.
    STRINGi 9606.ENSP00000167586.

    PTM databases

    PhosphoSitei P02533.

    Polymorphism databases

    DMDMi 229463044.

    Proteomic databases

    MaxQBi P02533.
    PaxDbi P02533.
    PRIDEi P02533.
    ProMEXi P02533.

    Protocols and materials databases

    DNASUi 3861.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000167586 ; ENSP00000167586 ; ENSG00000186847 .
    GeneIDi 3861.
    KEGGi hsa:3861.
    UCSCi uc002hxf.2. human.

    Organism-specific databases

    CTDi 3861.
    GeneCardsi GC17M039738.
    GeneReviewsi KRT14.
    HGNCi HGNC:6416. KRT14.
    HPAi CAB000134.
    HPA000452.
    HPA000453.
    HPA023040.
    MIMi 125595. phenotype.
    131760. phenotype.
    131800. phenotype.
    131900. phenotype.
    148066. gene.
    161000. phenotype.
    601001. phenotype.
    neXtProti NX_P02533.
    Orphaneti 89838. Autosomal recessive epidermolysis bullosa simplex.
    86920. Dermatopathia pigmentosa reticularis.
    79397. Epidermolysis bullosa simplex with mottled pigmentation.
    79396. Epidermolysis bullosa simplex, Dowling-Meara type.
    79399. Generalized epidermolysis bullosa simplex, non-Dowling-Meara type.
    79400. Localized epidermolysis bullosa simplex.
    69087. Naegeli-Franceschetti-Jadassohn syndrome.
    PharmGKBi PA30203.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG148784.
    HOVERGENi HBG013015.
    InParanoidi P02533.
    KOi K07604.
    OMAi TMTTCSR.
    OrthoDBi EOG7FV3Q8.
    PhylomeDBi P02533.
    TreeFami TF332742.

    Enzyme and pathway databases

    Reactomei REACT_20537. Type I hemidesmosome assembly.

    Miscellaneous databases

    GeneWikii Keratin_14.
    GenomeRNAii 3861.
    NextBioi 15195.
    PROi P02533.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P02533.
    Bgeei P02533.
    CleanExi HS_KRT14.
    Genevestigatori P02533.

    Family and domain databases

    InterProi IPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR002957. Keratin_I.
    IPR009053. Prefoldin.
    [Graphical view ]
    PANTHERi PTHR23239. PTHR23239. 1 hit.
    Pfami PF00038. Filament. 1 hit.
    [Graphical view ]
    PRINTSi PR01248. TYPE1KERATIN.
    SUPFAMi SSF46579. SSF46579. 1 hit.
    PROSITEi PS00226. IF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Remarkable conservation of structure among intermediate filament genes."
      Marchuk D., McCrohon S., Fuchs E.
      Cell 39:491-498(1984) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene."
      Marchuk D., McCrohon S., Fuchs E.
      Proc. Natl. Acad. Sci. U.S.A. 82:1609-1613(1985) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT TYR-63.
    3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS TYR-63 AND THR-94.
    4. "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].
    5. "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], VARIANTS TYR-63 AND THR-94.
      Tissue: Brain, Pancreas and Skin.
    6. "The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins."
      Hanukoglu I., Fuchs E.
      Cell 31:243-252(1982) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 64-472.
      Tissue: Epidermis.
    7. "Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex."
      Chan Y.-M., Cheng J., Gedde-Dahl T. Jr., Niemi K.M., Fuchs E.
      J. Invest. Dermatol. 106:327-334(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 117-132, VARIANT DM-EBS ASP-129.
    8. "Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses."
      Coulombe P.A., Hutton M.E., Letai A., Hebert A., Paller A.S., Fuchs E.
      Cell 66:1301-1311(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126, VARIANTS DM-EBS PHE-122; CYS-125 AND HIS-125.
    9. "A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex."
      Yamanishi K., Matsuki M., Konishi K., Yasuno H.
      Hum. Mol. Genet. 3:1171-1172(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126, VARIANT K-EBS PHE-122.
    10. "A novel mutation of cytokeratin 14 in a Japanese epidermolysis bullosa simplex family."
      Fujiwara H.
      Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 352-424, VARIANT K-EBS THR-413.
    11. "Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle."
      Bowden P.E., Hainey S.D., Parker G., Jones D.O., Zimonjic D., Popescu N., Hodgins M.B.
      J. Invest. Dermatol. 110:158-164(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    12. "Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD."
      Inada H., Izawa I., Nishizawa M., Fujita E., Kiyono T., Takahashi T., Momoi T., Inagaki M.
      J. Cell Biol. 155:415-426(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TRADD.
    13. "The nonhelical tail domain of keratin 14 promotes filament bundling and enhances the mechanical properties of keratin intermediate filaments in vitro."
      Bousquet O., Ma L., Yamada S., Gu C., Idei T., Takahashi K., Wirtz D., Coulombe P.A.
      J. Cell Biol. 155:747-754(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH KERATIN FILAMENTS, SUBCELLULAR LOCATION.
    14. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    15. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    16. "Structural basis for heteromeric assembly and perinuclear organization of keratin filaments."
      Lee C.H., Kim M.S., Chung B.M., Leahy D.J., Coulombe P.A.
      Nat. Struct. Mol. Biol. 19:707-715(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 295-422 IN COMPLEX WITH KRT5, DISULFIDE BOND, SUBCELLULAR LOCATION.
    17. "Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities."
      Bonifas J.M., Rothman A.L., Epstein E.H. Jr.
      Science 254:1202-1205(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT K-EBS PRO-384.
    18. "A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375."
      Chen M.A., Bonifas J.M., Matsumura K., Blumenfeld A., Epstein E.H. Jr.
      Hum. Mol. Genet. 2:1971-1972(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WC-EBS GLU-375 DEL.
    19. "A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex."
      Humphries M.M., Sheils D.M., Farrar G.J., Kumar-Singh R., Kenna P.F., Mansergh F.C., Jordan S.A., Young M.M., Humphries P.
      Hum. Mutat. 2:37-42(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT K-EBS ARG-272.
    20. "A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis."
      Stephens K., Sybert V.P., Wijsman E.M., Ehrlich P., Spencer A.
      J. Invest. Dermatol. 101:240-243(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DM-EBS HIS-125.
    21. "A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex."
      Hovnanian A., Pollack E., Hilal L., Rochat A., Prost C., Barrandon Y., Goossens M.
      Nat. Genet. 3:327-331(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EBSB1 ALA-144.
    22. "Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function."
      Rugg E.L., Morley S.M., Smith F.J.D., Boxer M., Tidman M.J., Navsaria H.A., Leigh I.M., Lane E.B.
      Nat. Genet. 5:294-300(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WC-EBS MET-270.
    23. "Keratin 14 gene mutations in patients with epidermolysis bullosa simplex."
      Chen H., Bonifas J.M., Matsumura K., Ikeda S., Leyden W.A., Epstein E.H. Jr.
      J. Invest. Dermatol. 105:629-632(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS WC-EBS ILE-119; ASP-274; ASN-377 AND CYS-388, VARIANTS DM-EBS ARG-120; CYS-125 AND SER-125.
    24. "Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex: increased severity of disease in a homozygote."
      Hu Z.L., Smith L., Martins S., Bonifas J.M., Chen H., Epstein E.H. Jr.
      J. Invest. Dermatol. 109:360-364(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WC-EBS ILE-119.
    25. "Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14)."
      Shemanko C.S., Mellerio J.E., Tidman M.J., Lane E.B., Eady R.A.J.
      J. Invest. Dermatol. 111:893-895(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DM-EBS THR-119.
    26. "Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex."
      Mueller F.B., Kuester W., Bruckner-Tuderman L., Korge B.P.
      J. Invest. Dermatol. 111:900-902(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WC-EBS GLY-273.
    27. "A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex."
      Sasaki Y., Shimizu H., Akiyama M., Hiraoka Y., Takizawa Y., Yamada S., Morishima Y., Yamanishi K., Aiso S., Nishikawa T.
      Br. J. Dermatol. 141:747-748(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DM-EBS CYS-125.
    28. "Genomic keratin 14 mutation detection in epidermolysis bullosa simplex."
      Hut P.H.L., van der Vlies P., Jonkman M.F., Shimizu H., Buys C.H.C.M., Scheffer H.
      Eur. J. Hum. Genet. Suppl. 7:121-121(1999)
      Cited for: VARIANT K-EBS HIS-415, VARIANT DM-EBS GLN-419.
    29. "Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype."
      Soerensen C.B., Ladekjaer-Mikkelsen A.-S., Andresen B.S., Brandrup F., Veien N.K., Buus S.K., Anton-Lamprecht I., Kruse T.A., Jensen P.K.A., Eiberg H., Bolund L., Gregersen N.
      J. Invest. Dermatol. 112:184-190(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WC-EBS ASN-116, VARIANT DM-EBS SER-123, VARIANT K-EBS PRO-143, VARIANT THR-94, SEQUENCE REVISION TO 25 AND 43.
    30. "Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential."
      Shemanko C.S., Horn H.M., Keohane S.G., Hepburn N., Kerr A.I.G., Atherton D.J., Tidman M.J., Lane E.B.
      Br. J. Dermatol. 142:315-320(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DM-EBS HIS-125.
    31. "Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis."
      Hut P.H.L., van der Vlies P., Jonkman M.F., Verlind E., Shimizu H., Buys C.H.C.M., Scheffer H.
      J. Invest. Dermatol. 114:616-619(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DM-EBS CYS-125; HIS-125 AND GLN-419, VARIANTS K-EBS ASP-247 AND HIS-415, VARIANT WC-EBS LYS-422.
    32. "DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex."
      Rugg E.L., Baty D., Shemanko C.S., Magee G., Polak S., Bergman R., Kadar T., Boxer M., Falik-Zaccai T., Borochowitz Z., Lane E.B.
      Prenat. Diagn. 20:371-377(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DM-EBS CYS-125 AND HIS-415, VARIANT K-EBS PRO-134.
    33. "Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes."
      Cummins R.E., Klingberg S., Wesley J., Rogers M., Zhao Y., Murrell D.F.
      J. Invest. Dermatol. 117:1103-1107(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DM-EBS THR-119, VARIANT K-EBS VAL-119.
    34. Cited for: VARIANTS WC-EBS HIS-388 AND CYS-415, VARIANT DM-EBS HIS-125.
    35. "Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations."
      Schuilenga-Hut P.H.L., Vlies P., Jonkman M.F., Waanders E., Buys C.H.C.M., Scheffer H.
      Hum. Mutat. 21:447-447(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DM-EBS PRO-130 AND GLN-419, VARIANT WC-EBS MET-408.
    36. "Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients."
      Wood P., Baty D.U., Lane E.B., McLean W.H.I.
      J. Invest. Dermatol. 120:495-497(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DM-EBS SER-128 DEL AND PRO-416, VARIANT WC-EBS CYS-148.
    37. "Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex."
      Csikos M., Szalai Z., Becker K., Sebok B., Schneider I., Horvath A., Karpati S.
      Exp. Dermatol. 13:185-191(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DM-EBS LYS-123 AND GLY-125, VARIANT WC-EBS LEU-133.
    38. "Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14."
      Lugassy J., Itin P., Ishida-Yamamoto A., Holland K., Huson S., Geiger D., Hennies H.C., Indelman M., Bercovich D., Uitto J., Bergman R., McGrath J.A., Richard G., Sprecher E.
      Am. J. Hum. Genet. 79:724-730(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN NFJS, INVOLVEMENT IN DPR.
    39. "Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases."
      Yasukawa K., Sawamura D., Goto M., Nakamura H., Jung S.-Y., Kim S.-C., Shimizu H.
      Br. J. Dermatol. 155:313-317(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WC-EBS VAL-119, VARIANTS DM-EBS HIS-125 AND CYS-125.
    40. "Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly."
      Mueller F.B., Kuester W., Wodecki K., Almeida H. Jr., Bruckner-Tuderman L., Krieg T., Korge B.P., Arin M.J.
      Hum. Mutat. 27:719-720(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DM-EBS LYS-123; CYS-125; HIS-125 AND PRO-417, VARIANTS K-EBS LEU-133; THR-272 AND PRO-384, VARIANTS WC-EBS PRO-211 AND GLU-411 DEL.

    Entry informationi

    Entry nameiK1C14_HUMAN
    AccessioniPrimary (citable) accession number: P02533
    Secondary accession number(s): Q14715
    , Q53XY3, Q9BUE3, Q9UBN2, Q9UBN3, Q9UCY4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 21, 1986
    Last sequence update: May 5, 2009
    Last modified: October 1, 2014
    This is version 167 of the entry and version 4 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; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

    Keywords - Technical termi

    3D-structure, Complete proteome, 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3