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    KRT83 keratin 83 [ Homo sapiens (human) ]

    Gene ID: 3889, updated on 5-May-2013
    Official Symbol
    KRT83provided by HGNC
    Official Full Name
    keratin 83provided by HGNC
    Primary source
    HGNC:6460
    See related
    Ensembl:ENSG00000170523; HPRD:09097; MIM:602765; Vega:OTTHUMG00000169632
    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
    HB3; Hb-3; KRTHB3
    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 KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008]
    Location :
    12q13
    Sequence :
    Chromosome: 12; NC_000012.11 (52708085..52715182, complement)
    See KRT83 in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene keratin 81 Neighboring gene keratin 86 Neighboring gene keratin 123 pseudogene Neighboring gene keratin 85

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. 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.
    2. Charting the molecular network of the drug target Bcr-Abl. Brehme M, et al. Proc Natl Acad Sci U S A, 2009 May 5. PMID 19380743.
    3. New consensus nomenclature for mammalian keratins. Schweizer J, et al. J Cell Biol, 2006 Jul 17. PMID 16831889.
    4. Keratins of the human hair follicle. Langbein L, et al. Int Rev Cytol, 2005. PMID 15797458.
    5. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. van Steensel MA, et al. J Med Genet, 2005 Mar. PMID 15744029.

    See all (9) 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. A heterozygous missense mutation in hHb3 causing the substitution of a glutamic acid by a lysine at position 407 in the helix termination motif defines this particular residue as a trichocyte keratin mutational hotspot associated with monilethrix.
      Title: A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.
    2. The KRTHB3 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:110087 BioGRID:108374 EPS15    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110087 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110087 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC141663

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    epidermis development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    keratin filament IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    keratin, type II cuticular Hb3
    Names
    keratin, type II cuticular Hb3
    K83
    hHb3
    keratin-83
    hair keratin K2.10
    type-II keratin Kb23
    keratin, hair, basic, 3
    hard keratin, type II, 3
    type II hair keratin Hb3

    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_008352.1 RefSeqGene

      Range
      5001..12098
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002282.3 → NP_002273.3  keratin, type II cuticular Hb3

      Status: REVIEWED

      Source sequence(s)
      AC121757, BC069546
      Consensus CDS
      CCDS8823.1
      UniProtKB/Swiss-Prot
      P78385
      Related
      ENSP00000293670, OTTHUMP00000241740, ENST00000293670, OTTHUMT00000405182
      Conserved Domains (1) summary
      pfam00038
      Location:110 – 421
      Blast Score: 936
      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
      52708085..52715182, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1

      Range
      49741813..49743633, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_003846559.2 → XP_003846607.1  

      Conserved Domains (1) summary
      pfam00038
      Location:110 – 421
      Blast Score: 928
      Filament; Intermediate filament protein

    2. XM_003846560.2 → XP_003846608.1  

      Conserved Domains (1) summary
      pfam00038
      Location:110 – 421
      Blast Score: 905
      Filament; Intermediate filament protein

    Alternate CHM1_1.0

    Genomic

    1. NC_018923.1 Alternate CHM1_1.0

      Range
      52542393..52549494, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01011917.1 (14886..22003) None
    genomic ABBA01031630.1 (80534..82354) None
    genomic AC121757.8 (24529..31627) None
    genomic AMYH01004472.1 (12216..19317) None
    genomic Y19208.1 CAB76828.1
    mRNA AK314904.1 BAG37418.1
    mRNA BC069546.1 AAH69546.1
    mRNA BC126935.1 AAI26936.1
    mRNA BC128063.1 AAI28064.1
    mRNA X99141.1 CAA67578.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P78385.2 GenPept UniProtKB/Swiss-Prot:P78385

    Additional Links

    Gene LinkOut

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

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      Supplemental Content

      Table of contents

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        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.
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        Full text in PubMedCentral identified from shared sequence links
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        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.
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        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.
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        Citations in PubMed identified from shared sequence and PMC links.
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        Link to Protein RefSeqs
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