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    KRT86 keratin 86 [ Homo sapiens (human) ]

    Gene ID: 3892, updated on 8-Jul-2018
    Official Symbol
    KRT86provided by HGNC
    Official Full Name
    keratin 86provided by HGNC
    Primary source
    HGNC:HGNC:6463
    See related
    Ensembl:ENSG00000170442 MIM:601928; Vega:OTTHUMG00000184153
    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; K86; MNX; KRTHB1; KRTHB6
    Summary
    This gene encodes a type II keratin protein, which heterodimerizes with type I keratins to form hair and nails. This gene is present in a cluster of related genes and pseudogenes on chromosome 12. Mutations in this gene have been observed in patients with the hair disease monilethrix. [provided by RefSeq, Feb 2016]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    See KRT86 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (52270507..52309163)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52642892..52702947)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 7 Neighboring gene keratin 87 pseudogene Neighboring gene keratin 88 pseudogene Neighboring gene keratin 81 Neighboring gene keratin 83 Neighboring gene keratin 89 pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Beaded hair
    MedGen: C0546966 OMIM: 158000 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of keratin 86 (KRT86; KRTHB6) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Keratinization, organism-specific biosystem (from REACTOME)
      Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ25176

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cornification TAS
    Traceable Author Statement
    more info
     
    keratinization TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    keratin filament IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    keratin, type II cuticular Hb6
    Names
    hair keratin K2.11
    hard keratin, type II, 6
    keratin 86, type II
    keratin protein HB6
    keratin, hair, basic, 6 (monilethrix)
    type II hair keratin Hb6
    type-II keratin Kb26

    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_008086.2 RefSeqGene

      Range
      5001..39519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001320198.1NP_001307127.1  keratin, type II cuticular Hb6

      Status: REVIEWED

      Source sequence(s)
      AI368926, AK292237, BC069585, BG216771, DC399862
      Consensus CDS
      CCDS41785.1
      UniProtKB/Swiss-Prot
      O43790
      UniProtKB/TrEMBL
      A8K872
      Related
      ENSP00000444533.1, OTTHUMP00000241597, ENST00000423955.6, OTTHUMT00000404911
      Conserved Domains (2) summary
      pfam00038
      Location:105416
      Filament; Intermediate filament protein
      pfam16208
      Location:40102
      Keratin_2_head; Keratin type II head

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      52270507..52309163
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268866.4XP_005268923.1  keratin, type II cuticular Hb6 isoform X1

      Conserved Domains (4) summary
      pfam00038
      Location:182493
      Filament; Intermediate filament protein
      pfam16208
      Location:80179
      Keratin_2_head; Keratin type II head
      cl09111
      Location:302417
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
      cl23720
      Location:392460
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    2. XM_017019296.1XP_016874785.1  keratin, type II cuticular Hb6 isoform X2

      UniProtKB/Swiss-Prot
      O43790
      Related
      ENSP00000293525.5, ENST00000293525.5
      Conserved Domains (2) summary
      pfam00038
      Location:105416
      Filament; Intermediate filament protein
      pfam16208
      Location:40102
      Keratin_2_head; Keratin type II head

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_002284.3: Suppressed sequence

      Description
      NM_002284.3: This RefSeq was removed because currently there is insufficient support for the transcript.
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