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P02538

- K2C6A_HUMAN

UniProt

P02538 - K2C6A_HUMAN

Protein

Keratin, type II cytoskeletal 6A

Gene

KRT6A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 152 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Sites

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

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. structural constituent of cytoskeleton Source: UniProtKB

    GO - Biological processi

    1. cell differentiation Source: UniProtKB
    2. positive regulation of cell proliferation Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin, type II cytoskeletal 6A
    Alternative name(s):
    Cytokeratin-6A
    Short name:
    CK-6A
    Cytokeratin-6D
    Short name:
    CK-6D
    Keratin-6A
    Short name:
    K6A
    Type-II keratin Kb6
    Allergen: Hom s 5
    Gene namesi
    Name:KRT6A
    Synonyms:K6A, KRT6D
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:6443. KRT6A.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. keratin filament Source: InterPro
    3. membrane Source: UniProtKB
    4. nucleus Source: UniProt

    Keywords - Cellular componenti

    Intermediate filament, Keratin

    Pathology & Biotechi

    Involvement in diseasei

    Pachyonychia congenita 1 (PC1) [MIM:167200]: An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti171 – 1711Missing in PC1. 1 Publication
    VAR_003878
    Natural varianti174 – 1741F → V in PC1. 1 Publication
    Corresponds to variant rs28933087 [ dbSNP | Ensembl ].
    VAR_017075
    Natural varianti469 – 4691L → R in PC1. 1 Publication
    Corresponds to variant rs57052654 [ dbSNP | Ensembl ].
    VAR_017076
    Natural varianti472 – 4721E → K in PC1. 1 Publication
    Corresponds to variant rs60554162 [ dbSNP | Ensembl ].
    VAR_017077

    Allergenic propertiesi

    Causes an allergic reaction in human. Binds to IgE from atopic dermatitis (AD) patients. Identified as an IgE autoantigen in atopic dermatitis (AD) patients with severe skin manifestations.

    Keywords - Diseasei

    Allergen, Disease mutation, Ectodermal dysplasia, Palmoplantar keratoderma

    Organism-specific databases

    MIMi167200. phenotype.
    Orphaneti2309. Pachyonychia congenita.
    PharmGKBiPA30231.

    Protein family/group databases

    Allergomei3326. Hom s 5.0101.
    415. Hom s 5.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 564563Keratin, type II cytoskeletal 6APRO_0000063731Add
    BLAST

    Amino acid modifications

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

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiP02538.
    PaxDbiP02538.
    PeptideAtlasiP02538.
    PRIDEiP02538.

    PTM databases

    PhosphoSiteiP02538.

    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

    BgeeiP02538.
    CleanExiHS_KRT6A.
    GenevestigatoriP02538.

    Organism-specific databases

    HPAiHPA045697.

    Interactioni

    Subunit structurei

    Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17. Interacts with TCHP.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CCDC85BQ158342EBI-702198,EBI-739674

    Protein-protein interaction databases

    BioGridi110051. 28 interactions.
    DIPiDIP-533N.
    IntActiP02538. 12 interactions.
    STRINGi9606.ENSP00000369317.

    Structurei

    3D structure databases

    ProteinModelPortaliP02538.
    SMRiP02538. Positions 160-313, 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.
    InParanoidiP02538.
    KOiK07605.
    OMAiMQDQVED.
    OrthoDBiEOG7FV3Q8.
    PhylomeDBiP02538.
    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.

    P02538-1 [UniParc]FASTAAdd to Basket

    « Hide

    MASTSTTIRS HSSSRRGFSA NSARLPGVSR SGFSSVSVSR SRGSGGLGGA    50
    CGGAGFGSRS LYGLGGSKRI SIGGGSCAIS GGYGSRAGGS YGFGGAGSGF 100
    GFGGGAGIGF GLGGGAGLAG GFGGPGFPVC PPGGIQEVTV NQSLLTPLNL 150
    QIDPTIQRVR AEEREQIKTL NNKFASFIDK VRFLEQQNKV LETKWTLLQE 200
    QGTKTVRQNL EPLFEQYINN LRRQLDSIVG ERGRLDSELR GMQDLVEDFK 250
    NKYEDEINKR TAAENEFVTL KKDVDAAYMN KVELQAKADT LTDEINFLRA 300
    LYDAELSQMQ THISDTSVVL SMDNNRNLDL DSIIAEVKAQ YEEIAQRSRA 350
    EAESWYQTKY EELQVTAGRH GDDLRNTKQE IAEINRMIQR LRSEIDHVKK 400
    QCANLQAAIA DAEQRGEMAL KDAKNKLEGL EDALQKAKQD LARLLKEYQE 450
    LMNVKLALDV EIATYRKLLE GEECRLNGEG VGQVNISVVQ STVSSGYGGA 500
    SGVGSGLGLG GGSSYSYGSG LGVGGGFSSS SGRAIGGGLS SVGGGSSTIK 550
    YTTTSSSSRK SYKH 564
    Length:564
    Mass (Da):60,045
    Last modified:January 23, 2007 - v3
    Checksum:i26708916C7DC923A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti192 – 1921E → D in AAB60696. (PubMed:7543104)Curated
    Sequence conflicti241 – 2411G → N in AAB60696. (PubMed:7543104)Curated
    Sequence conflicti249 – 2491F → L in AAB60696. (PubMed:7543104)Curated
    Sequence conflicti395 – 3951I → S in CAA24760. (PubMed:6191871)Curated
    Sequence conflicti404 – 4041N → S in AAB60696. (PubMed:7543104)Curated
    Sequence conflicti443 – 4431R → W in AAH69269. (PubMed:15489334)Curated
    Sequence conflicti486 – 4861I → V in AAB60696. (PubMed:7543104)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti21 – 211N → S.1 Publication
    Corresponds to variant rs17845411 [ dbSNP | Ensembl ].
    VAR_021264
    Natural varianti111 – 1111G → D.
    Corresponds to variant rs681063 [ dbSNP | Ensembl ].
    VAR_035030
    Natural varianti171 – 1711Missing in PC1. 1 Publication
    VAR_003878
    Natural varianti174 – 1741F → V in PC1. 1 Publication
    Corresponds to variant rs28933087 [ dbSNP | Ensembl ].
    VAR_017075
    Natural varianti469 – 4691L → R in PC1. 1 Publication
    Corresponds to variant rs57052654 [ dbSNP | Ensembl ].
    VAR_017076
    Natural varianti472 – 4721E → K in PC1. 1 Publication
    Corresponds to variant rs60554162 [ dbSNP | Ensembl ].
    VAR_017077

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L42583
    , L42575, L42576, L42577, L42578, L42579, L42580, L42581 Genomic DNA. Translation: AAC41767.1.
    AH005420 Genomic DNA. Translation: AAB60696.1.
    BT006899 mRNA. Translation: AAP35545.1.
    BC008807 mRNA. Translation: AAH08807.1.
    BC014152 mRNA. Translation: AAH14152.1.
    BC069269 mRNA. Translation: AAH69269.1.
    BC125058 mRNA. Translation: AAI25059.1.
    BC139753 mRNA. Translation: AAI39754.1.
    V01516 Genomic DNA. Translation: CAA24760.1.
    CCDSiCCDS41786.1.
    PIRiA57398. KRHUEA.
    I61769.
    RefSeqiNP_005545.1. NM_005554.3.
    UniGeneiHs.700779.

    Genome annotation databases

    EnsembliENST00000330722; ENSP00000369317; ENSG00000205420.
    GeneIDi3853.
    KEGGihsa:3853.
    UCSCiuc001sam.3. human.

    Polymorphism databases

    DMDMi1346344.

    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
    L42583
    , L42575 , L42576 , L42577 , L42578 , L42579 , L42580 , L42581 Genomic DNA. Translation: AAC41767.1 .
    AH005420 Genomic DNA. Translation: AAB60696.1 .
    BT006899 mRNA. Translation: AAP35545.1 .
    BC008807 mRNA. Translation: AAH08807.1 .
    BC014152 mRNA. Translation: AAH14152.1 .
    BC069269 mRNA. Translation: AAH69269.1 .
    BC125058 mRNA. Translation: AAI25059.1 .
    BC139753 mRNA. Translation: AAI39754.1 .
    V01516 Genomic DNA. Translation: CAA24760.1 .
    CCDSi CCDS41786.1.
    PIRi A57398. KRHUEA.
    I61769.
    RefSeqi NP_005545.1. NM_005554.3.
    UniGenei Hs.700779.

    3D structure databases

    ProteinModelPortali P02538.
    SMRi P02538. Positions 160-313, 329-471.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110051. 28 interactions.
    DIPi DIP-533N.
    IntActi P02538. 12 interactions.
    STRINGi 9606.ENSP00000369317.

    Protein family/group databases

    Allergomei 3326. Hom s 5.0101.
    415. Hom s 5.

    PTM databases

    PhosphoSitei P02538.

    Polymorphism databases

    DMDMi 1346344.

    Proteomic databases

    MaxQBi P02538.
    PaxDbi P02538.
    PeptideAtlasi P02538.
    PRIDEi P02538.

    Protocols and materials databases

    DNASUi 3853.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000330722 ; ENSP00000369317 ; ENSG00000205420 .
    GeneIDi 3853.
    KEGGi hsa:3853.
    UCSCi uc001sam.3. human.

    Organism-specific databases

    CTDi 3853.
    GeneCardsi GC12M052880.
    GeneReviewsi KRT6A.
    HGNCi HGNC:6443. KRT6A.
    HPAi HPA045697.
    MIMi 148041. gene.
    167200. phenotype.
    neXtProti NX_P02538.
    Orphaneti 2309. Pachyonychia congenita.
    PharmGKBi PA30231.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG315845.
    HOGENOMi HOG000230976.
    HOVERGENi HBG013015.
    InParanoidi P02538.
    KOi K07605.
    OMAi MQDQVED.
    OrthoDBi EOG7FV3Q8.
    PhylomeDBi P02538.
    TreeFami TF317854.

    Miscellaneous databases

    ChiTaRSi KRT6A. human.
    GeneWikii Keratin_6A.
    GenomeRNAii 3853.
    NextBioi 15161.
    PROi P02538.
    SOURCEi Search...

    Gene expression databases

    Bgeei P02538.
    CleanExi HS_KRT6A.
    Genevestigatori P02538.

    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].
      Tissue: Skin.
    2. "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].
    3. "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], VARIANT SER-21.
      Tissue: Brain, Ovary and Pancreas.
    4. Cited for: PROTEIN SEQUENCE OF 2-9; 31-40; 43-86; 169-204; 208-232; 241-347; 350-369; 379-386; 425-436; 447-475 AND 534-550, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Lung carcinoma.
    5. "The cDNA sequence of a type II cytoskeletal keratin reveals constant and variable structural domains among keratins."
      Hanukoglu I., Fuchs E.
      Cell 33:915-924(1983) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 208-564.
    6. "Identification of trichoplein, a novel keratin filament-binding protein."
      Nishizawa M., Izawa I., Inoko A., Hayashi Y., Nagata K., Yokoyama T., Usukura J., Inagaki M.
      J. Cell Sci. 118:1081-1090(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TCHP.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "Mutation of a type II keratin gene (K6a) in pachyonychia congenita."
      Bowden P.E., Haley J.L., Kansky A., Rothnagel J.A., Jones D.O., Turner R.J.
      Nat. Genet. 10:363-365(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PC1 ASN-171 DEL.
    9. "Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita."
      Terrinoni A., Smith F.J.D., Didona B., Canzona F., Paradisi M., Huber M., Hohl D., David A., Verloes A., Leigh I.M., Munro C.S., Melino G., McLean W.H.I.
      J. Invest. Dermatol. 117:1391-1396(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PC1 VAL-174; ARG-469 AND LYS-472.

    Entry informationi

    Entry nameiK2C6A_HUMAN
    AccessioniPrimary (citable) accession number: P02538
    Secondary accession number(s): A4QPC1
    , P48667, Q08AR4, Q6NT67, Q96CL4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 21, 1986
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 152 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 at least six isoforms of human type II keratin-6 (K6), K6A being the most abundant representing about 77% of all forms found in epithelia.
    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. Allergens
      Nomenclature of allergens and list of entries
    2. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3