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    KRT6C keratin 6C [ Homo sapiens (human) ]

    Gene ID: 286887, updated on 5-May-2013
    Official Symbol
    KRT6Cprovided by HGNC
    Official Full Name
    keratin 6Cprovided by HGNC
    Primary source
    HGNC:20406
    See related
    Ensembl:ENSG00000170465; HPRD:17247; MIM:612315; Vega:OTTHUMG00000169596
    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
    K6E; KRT6E
    Summary
    Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jul 2009]
    Location :
    12q13.13
    Sequence :
    Chromosome: 12; NC_000012.11 (52862300..52867569, complement)
    See KRT6C in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene keratin 75 Neighboring gene keratin 6B Neighboring gene keratin 6A Neighboring gene keratin 5

    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. Global identification of modular cullin-RING ligase substrates. Emanuele MJ, et al. Cell, 2011 Oct 14. PMID 21963094.
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    5. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Sang L, et al. Cell, 2011 May 13. PMID 21565611.

    See all (17) citations in PubMed

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

    1. Keratin K6c mutations cause focal palmoplantar keratoderma
      Title: Keratin K6c mutations cause focal palmoplantar keratoderma.
    2. KRT6C mutations may have a role in focal palmoplantar keratoderma [commentary]
      Title: Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:130423 BioGRID:107315 CBL    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:130423 BioGRID:116183 COPS5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:130423 BioGRID:114032 CUL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:130423 BioGRID:114031 CUL2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:130423 BioGRID:109848 INPPL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:130423 BioGRID:115015 IQCB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:130423 BioGRID:235913 Iqcb1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:130423 BioGRID:111314 PIK3R2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:130423 BioGRID:114181 TP63    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:130423 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Clone Names

    • MGC102925, MGC163455, MGC163457

    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 cytoskeletal 6C
    Names
    keratin, type II cytoskeletal 6C
    K6C
    CK-6C
    CK-6E
    keratin 6E
    keratin-6C
    keratin K6h
    cytokeratin-6C
    cytokeratin-6E
    type-II keratin Kb12

    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_012416.1 RefSeqGene

      Range
      5001..10270
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173086.4 → NP_775109.2  keratin, type II cytoskeletal 6C

      Status: REVIEWED

      Source sequence(s)
      AC055736, BC110639
      Consensus CDS
      CCDS8829.1
      UniProtKB/Swiss-Prot
      P48668
      Related
      ENSP00000252250, OTTHUMP00000241633, ENST00000252250, OTTHUMT00000404976
      Conserved Domains (1) summary
      pfam00038
      Location:162 – 475
      Blast Score: 974
      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
      52862300..52867569, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      49906198..49911468, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018923.1 Alternate CHM1_1.0

      Range
      52696647..52701987, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01008292.1 (58518..63788) None
    genomic AC055736.20 (90016..94980) None
    genomic AMYH01004472.1 (166470..170246) None
    genomic AMYH01004473.1 None
    genomic AMYH01004474.1 None
    genomic BK000962.1 DAA01484.1
    genomic CH471054.1 EAW96628.1
      EAW96629.1
    mRNA AK299478.1 BAG61442.1
    mRNA AK313239.1 BAG36050.1
    mRNA BC110639.1 AAI10640.1
    mRNA BC130583.1 AAI30584.1
    mRNA BC130585.1 AAI30586.1
    mRNA L42611.1 AAC41770.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P48668.3 GenPept UniProtKB/Swiss-Prot:P48668

    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
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • 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
      • 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.
      • 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
      • SNP: Genotype
        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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