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    KRT86 keratin 86 [ Homo sapiens (human) ]

    Gene ID: 3892, updated on 9-Jun-2013
    Official Symbol
    KRT86provided by HGNC
    Official Full Name
    keratin 86provided by HGNC
    Primary source
    HGNC:6463
    See related
    Ensembl:ENSG00000170442; HPRD:03567; MIM:601928
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HB6; Hb1; MNX; hHb6; KRTHB1; KRTHB6
    Summary
    The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB3, is found primarily in the hair cortex. Mutations in this gene and KRTHB1 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008]
    Location :
    12q13
    Sequence :
    Chromosome: 12; NC_000012.11 (52695649..52702947)
    See KRT86 in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene keratin 122 pseudogene Neighboring gene keratin 81 Neighboring gene keratin 83 Neighboring gene keratin 123 pseudogene

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. De Cruz R, et al. Br J Dermatol, 2012 Jun. PMID 22670615.
    2. Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation. Feng YG, et al. J Dermatol, 2012 Sep. PMID 22568869.
    3. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    5. Mutation E402K of the hHb6 in a Chinese Han family with monilethrix. ZHANG SD, et al. Eur J Dermatol, 2009 Sep-Oct. PMID 19505862.

    See all (22) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation.
      Title: Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation.
    2. Results idntify a novel mutation of krt86 protein causing monilethrix located in a region other than the helix.
      Title: A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.
    3. Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.
      Title: Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.
    4. The results emphasized the key role of hair keratin hHB6 in the pathogenesis of monilethrix and indicated that the common mutation of hHB6 was also a cause of monilethrix in Chinese.
      Title: [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
    5. Observational study of genotype prevalence. (HuGE Navigator)
      Title: A novel promoter polymorphism (-71C>T) in KRTHB6 gene in Indian population.
    6. The KRTHB6 expression uniformly occurred in the midcortex region.
      Title: Keratins of the human hair follicle.
    Submit: New GeneRIF Correction

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:110090 BioGRID:108374 EPS15    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110090 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110090 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ25176

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    structural molecule activity NAS
    Non-traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    cytoskeleton organization NAS
    Non-traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    intermediate filament NAS
    Non-traceable Author Statement
    more info
    		  
    keratin filament IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    keratin, type II cuticular Hb6
    Names
    keratin, type II cuticular Hb6
    K86
    keratin-86
    hair keratin K2.11
    keratin protein HB6
    type-II keratin Kb26
    hard keratin, type II, 6
    type II hair keratin Hb6
    keratin, hair, basic, 6 (monilethrix)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008086.1 RefSeqGene

      Range
      5001..12299
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002284.3 → NP_002275.1  keratin, type II cuticular Hb6

      Status: REVIEWED

      Source sequence(s)
      AC121757, BC069585
      Consensus CDS
      CCDS41785.1
      UniProtKB/Swiss-Prot
      O43790
      Related
      ENSP00000293525, ENST00000293525
      Conserved Domains (1) summary
      pfam00038
      Location:105 – 416
      Blast Score: 910
      Filament; Intermediate filament protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p10 Primary Assembly

      Range
      52695649..52702947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      49729376..49736676
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018923.1 Alternate CHM1_1.0

      Range
      52529862..52537255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01031630.1 (68097..75397) None
    genomic AC121757.8 (36764..44063) None
    genomic AF416705.1 AAN04663.1
    genomic AF416706.1 AAN04664.1
    genomic AJ000263.1 CAA03979.1
    genomic AMYH01004471.1 (307850..308065) None
    genomic AMYH01004472.1 None
    genomic AY152543.1 AAN75225.1
    genomic AY152544.1 AAN75226.1
    genomic AY152545.1 AAN75227.1
    genomic Y19211.1 CAB76831.1
    mRNA AK057905.1 None
    mRNA AK292237.1 BAF84926.1
    mRNA AK297794.1 BAG60134.1
    mRNA BC069585.1 AAH69585.1
    mRNA X99142.1 CAA67579.1
    other-genetic HQ447461.1 ADQ31947.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43790.1 GenPept UniProtKB/Swiss-Prot:O43790

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
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      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
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        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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