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    KRT81 keratin 81 [ Homo sapiens (human) ]

    Gene ID: 3887, updated on 22-May-2013
    Official Symbol
    KRT81provided by HGNC
    Official Full Name
    keratin 81provided by HGNC
    Primary source
    HGNC:6458
    See related
    Ensembl:ENSG00000205426; HPRD:03691; MIM:602153; Vega:OTTHUMG00000167574
    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
    HB1; Hb-1; KRTHB1; MLN137; ghHkb1; hHAKB2-1
    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 KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 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 (52679697..52685299, complement)
    See KRT81 in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene keratin 121 pseudogene Neighboring gene keratin 122 pseudogene Neighboring gene keratin 86 Neighboring gene keratin 83

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Proteomic analysis of the NOS2 interactome in human airway epithelial cells. Foster MW, et al. Nitric Oxide, 2013 Feb 21. PMID 23438482.
    2. Protein interactions of the transcription factor Hoxa1. Lambert B, et al. BMC Dev Biol, 2012 Oct 22. PMID 23088713.
    3. Impact of MiRSNPs on survival and progression in patients with multiple myeloma undergoing autologous stem cell transplantation. de Larrea CF, et al. Clin Cancer Res, 2012 Jul 1. PMID 22539802.
    4. 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.
    5. A dual role for KRT81: a miR-SNP associated with recurrence in non-small-cell lung cancer and a novel marker of squamous cell lung carcinoma. Campayo M, et al. PLoS One, 2011. PMID 21799879.

    See all (24) 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. Overall survival was significantly longer in multiple myeloma patients with KRT81 rs3660 C/C variant
      Title: Impact of MiRSNPs on survival and progression in patients with multiple myeloma undergoing autologous stem cell transplantation.
    2. KRT81 has emerged as a promising immunohistochemical marker for the identification of squamous cell lung carcinoma
      Title: A dual role for KRT81: a miR-SNP associated with recurrence in non-small-cell lung cancer and a novel marker of squamous cell lung carcinoma.
    3. Transfected p65 induces transcriptional activation of Hb1.
      Title: Transcriptional activation of a subset of hair keratin genes by the NF-kappaB effector p65/RelA.
    4. EBV-dependent upregulation of hHb1-DeltaN in gastric carcinoma cell lines
      Title: Upregulation of the truncated basic hair keratin 1(hHb1-DeltaN) in carcinoma cells by Epstein-Barr virus (EBV).
    5. The KRTHB1 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
    Q14533 P19012 KRT15    HPRD  PubMed  
    Q14533 Chromosome 19 open reading frame 50 KXD1    HPRD  PubMed  
    Q14533 P12757 SKIL    HPRD  PubMed  
    BioGRID:110085 BioGRID:108621 FN1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110085 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110085 BioGRID:109438 HOXA1    BioGRID  PubMed Affinity Capture-Western; PCA 
    BioGRID:110085 BioGRID:200362 Hoxa1    BioGRID  PubMed Two-hybrid 
    BioGRID:110085 BioGRID:110064 KRT15    BioGRID  PubMed Two-hybrid 
    BioGRID:110085 BioGRID:122501 KXD1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:110085 BioGRID:110906 NOS2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110085 BioGRID:112389 SKIL    BioGRID  PubMed Two-hybrid 
    BioGRID:110085 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110085 BioGRID:115283 USP15    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    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
    		  
    Component Evidence Code Pubs
    keratin filament IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    keratin, type II cuticular Hb1
    Names
    keratin, type II cuticular Hb1
    K81
    ghHb1
    MLN 137
    keratin-81
    hair keratin K2.9
    type-II keratin Kb21
    keratin, hair, basic, 1
    hard keratin, type II, 1
    type II hair keratin Hb1
    metastatic lymph node 137 gene protein

    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_008184.1 RefSeqGene

      Range
      5001..10603
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002281.3 → NP_002272.2  keratin, type II cuticular Hb1

      Status: REVIEWED

      Source sequence(s)
      AC121757, X81420
      Consensus CDS
      CCDS31805.1
      UniProtKB/Swiss-Prot
      Q14533
      Related
      ENSP00000369349, OTTHUMP00000236200, ENST00000327741, OTTHUMT00000395128
      Conserved Domains (1) summary
      pfam00038
      Location:105 – 416
      Blast Score: 883
      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
      52679697..52685299, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      49713426..49719033, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018923.1 Alternate CHM1_1.0

      Range
      52513905..52519511, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01031630.1 (52147..57754) None
    genomic AC121757.8 (54412..60015) None
    genomic AMYH01004471.1 (291893..297499) None
    genomic AY121753.1 AAM94951.1
    genomic AY123848.1 AAM92877.1
    genomic CH471111.1 EAW58243.1
    genomic S75796.1 AAB32813.1
    genomic Y13621.1 CAA73943.1
    genomic Y19206.1 CAB76826.1
    mRNA BC006452.1 AAH06452.1
    mRNA BC021241.2 AAH21241.1
    mRNA BC031978.1 None
    mRNA BC117465.1 AAI17466.1
    mRNA BC117467.1 AAI17468.1
    mRNA X80197.1 CAA56488.1
    mRNA X81420.1 CAA57180.1
    other-genetic HQ258431.1 ADR83185.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14533.3 GenPept UniProtKB/Swiss-Prot:Q14533

    Additional Links

    Gene LinkOut

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

    Chemical Information
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    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • 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.
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      • GTR
        GTR associated with a gene
      • HomoloGene
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      • 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
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        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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