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O43790

- KRT86_HUMAN

UniProt

O43790 - KRT86_HUMAN

Protein

Keratin, type II cuticular Hb6

Gene

KRT86

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 1 (01 Jun 1998)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. structural molecule activity Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin, type II cuticular Hb6
    Alternative name(s):
    Hair keratin K2.11
    Keratin-86
    Short name:
    K86
    Type II hair keratin Hb6
    Type-II keratin Kb26
    Gene namesi
    Name:KRT86
    Synonyms:KRTHB6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:6463. KRT86.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Intermediate filament, Keratin

    Pathology & Biotechi

    Involvement in diseasei

    Monilethrix (MLTRX) [MIM:158000]: Autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti114 – 1141N → D in MLTRX. 2 Publications
    VAR_018125
    Natural varianti114 – 1141N → H in MLTRX. 1 Publication
    VAR_023053
    Natural varianti402 – 4021E → K in MLTRX. 2 Publications
    VAR_018127
    Natural varianti402 – 4021E → Q in MLTRX. 1 Publication
    Corresponds to variant rs28939669 [ dbSNP | Ensembl ].
    VAR_018126
    Natural varianti413 – 4131E → D in MLTRX. 1 Publication
    VAR_018129
    Natural varianti413 – 4131E → K in MLTRX. 2 Publications
    VAR_018128

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi158000. phenotype.
    Orphaneti573. Monilethrix.
    PharmGKBiPA30252.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 486486Keratin, type II cuticular Hb6PRO_0000063704Add
    BLAST

    Proteomic databases

    MaxQBiO43790.
    PRIDEiO43790.

    PTM databases

    PhosphoSiteiO43790.

    Expressioni

    Tissue specificityi

    Synthesis begins slightly higher in the hair shaft than HB1 and HB3 and continues much farther up, ending in the keratogeneous zone.1 Publication

    Gene expression databases

    ArrayExpressiO43790.
    CleanExiHS_KRT86.
    GenevestigatoriO43790.

    Organism-specific databases

    HPAiHPA039798.

    Interactioni

    Subunit structurei

    Heterotetramer of two type I and two type II keratins.

    Protein-protein interaction databases

    BioGridi110090. 4 interactions.
    STRINGi9606.ENSP00000293525.

    Structurei

    3D structure databases

    ProteinModelPortaliO43790.
    SMRiO43790. Positions 106-254, 272-412.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 106106HeadAdd
    BLAST
    Regioni107 – 413307RodAdd
    BLAST
    Regioni107 – 14135Coil 1AAdd
    BLAST
    Regioni142 – 15110Linker 1
    Regioni152 – 252101Coil 1BAdd
    BLAST
    Regioni253 – 26917Linker 12Add
    BLAST
    Regioni270 – 413144Coil 2Add
    BLAST
    Regioni414 – 48673TailAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    HOGENOMiHOG000230976.
    HOVERGENiHBG013015.
    InParanoidiO43790.
    KOiK07605.
    OMAiCAPSARV.
    PhylomeDBiO43790.
    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.

    O43790-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTCGSYCGGR AFSCISACGP RPGRCCITAA PYRGISCYRG LTGGFGSHSV    50
    CGGFRAGSCG RSFGYRSGGV CGPSPPCITT VSVNESLLTP LNLEIDPNAQ 100
    CVKQEEKEQI KSLNSRFAAF IDKVRFLEQQ NKLLETKLQF YQNRECCQSN 150
    LEPLFEGYIE TLRREAECVE ADSGRLASEL NHVQEVLEGY KKKYEEEVSL 200
    RATAENEFVA LKKDVDCAYL RKSDLEANVE ALIQEIDFLR RLYEEEIRVL 250
    QSHISDTSVV VKLDNSRDLN MDCIIAEIKA QYDDIVTRSR AEAESWYRSK 300
    CEEMKATVIR HGETLRRTKE EINELNRMIQ RLTAEVENAK CQNSKLEAAV 350
    AQSEQQGEAA LSDARCKLAE LEGALQKAKQ DMACLIREYQ EVMNSKLGLD 400
    IEIATYRRLL EGEEQRLCEG VGSVNVCVSS SRGGVVCGDL CASTTAPVVS 450
    TRVSSVPSNS NVVVGTTNAC APSARVGVCG GSCKRC 486
    Length:486
    Mass (Da):53,501
    Last modified:June 1, 1998 - v1
    Checksum:i5ED86FB4CCA62688
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti62 – 621S → D in CAA67579. (PubMed:9084137)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti114 – 1141N → D in MLTRX. 2 Publications
    VAR_018125
    Natural varianti114 – 1141N → H in MLTRX. 1 Publication
    VAR_023053
    Natural varianti402 – 4021E → K in MLTRX. 2 Publications
    VAR_018127
    Natural varianti402 – 4021E → Q in MLTRX. 1 Publication
    Corresponds to variant rs28939669 [ dbSNP | Ensembl ].
    VAR_018126
    Natural varianti413 – 4131E → D in MLTRX. 1 Publication
    VAR_018129
    Natural varianti413 – 4131E → K in MLTRX. 2 Publications
    VAR_018128

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ000263 Genomic DNA. Translation: CAA03979.1.
    BC069585 mRNA. Translation: AAH69585.1.
    X99142 mRNA. Translation: CAA67579.1.
    CCDSiCCDS41785.1.
    RefSeqiNP_002275.1. NM_002284.3.
    UniGeneiHs.278658.

    Genome annotation databases

    EnsembliENST00000293525; ENSP00000293525; ENSG00000170442.
    ENST00000423955; ENSP00000444533; ENSG00000170442.
    GeneIDi3892.
    KEGGihsa:3892.
    UCSCiuc001sad.3. human.

    Cross-referencesi

    Web resourcesi

    Human Intermediate Filament Mutation Database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ000263 Genomic DNA. Translation: CAA03979.1 .
    BC069585 mRNA. Translation: AAH69585.1 .
    X99142 mRNA. Translation: CAA67579.1 .
    CCDSi CCDS41785.1.
    RefSeqi NP_002275.1. NM_002284.3.
    UniGenei Hs.278658.

    3D structure databases

    ProteinModelPortali O43790.
    SMRi O43790. Positions 106-254, 272-412.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110090. 4 interactions.
    STRINGi 9606.ENSP00000293525.

    PTM databases

    PhosphoSitei O43790.

    Proteomic databases

    MaxQBi O43790.
    PRIDEi O43790.

    Protocols and materials databases

    DNASUi 3892.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000293525 ; ENSP00000293525 ; ENSG00000170442 .
    ENST00000423955 ; ENSP00000444533 ; ENSG00000170442 .
    GeneIDi 3892.
    KEGGi hsa:3892.
    UCSCi uc001sad.3. human.

    Organism-specific databases

    CTDi 3892.
    GeneCardsi GC12P052643.
    HGNCi HGNC:6463. KRT86.
    HPAi HPA039798.
    MIMi 158000. phenotype.
    601928. gene.
    neXtProti NX_O43790.
    Orphaneti 573. Monilethrix.
    PharmGKBi PA30252.
    GenAtlasi Search...

    Phylogenomic databases

    HOGENOMi HOG000230976.
    HOVERGENi HBG013015.
    InParanoidi O43790.
    KOi K07605.
    OMAi CAPSARV.
    PhylomeDBi O43790.
    TreeFami TF317854.

    Miscellaneous databases

    ChiTaRSi KRT86. human.
    GeneWikii KRT86.
    GenomeRNAii 3892.
    NextBioi 15281.
    PROi O43790.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43790.
    CleanExi HS_KRT86.
    Genevestigatori O43790.

    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. "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: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "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].
    3. "Sequences and differential expression of three novel human type-II hair keratins."
      Rogers M.A., Langbein L., Praetzel S., Krieg T., Winter H., Schweizer J.
      Differentiation 61:187-194(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4-486, TISSUE SPECIFICITY.
    4. "A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix."
      Winter H., Rogers M.A., Gebhardt M., Wollina U., Boxall L., Chitayat D., Babul-Hirji R., Stevens H.P., Zlotogorski A., Schweizer J.
      Hum. Genet. 101:165-169(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MLTRX LYS-413 AND ASP-413.
    5. "Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6."
      Winter H., Clark R.D., Tarras-Wahlberg C., Rogers M.A., Schweizer J.
      J. Invest. Dermatol. 113:263-266(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MLTRX ASP-114 AND LYS-402.
    6. "Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype."
      Korge B.P., Hamm H., Jury C.S., Traupe H., Irvine A.D., Healy E., Birch-MacHin M.A., Rees J.L., Messenger A.G., Holmes S.C., Parry D.A., Munro C.S.
      J. Invest. Dermatol. 113:607-612(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MLTRX ASP-114; HIS-114 AND LYS-413.
    7. "Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix."
      Pearce E.G., Smith S.K., Lanigan S.W., Bowden P.E.
      J. Invest. Dermatol. 113:1123-1127(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MLTRX GLN-402 AND LYS-402.

    Entry informationi

    Entry nameiKRT86_HUMAN
    AccessioniPrimary (citable) accession number: O43790
    Secondary accession number(s): P78387
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 29, 2004
    Last sequence update: June 1, 1998
    Last modified: October 1, 2014
    This is version 119 of the entry and version 1 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 hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

    Keywords - Technical termi

    Complete proteome, 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