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KRT6C Gene

protein-coding   GIFtS: 49
GCID: GC12M052865

Keratin 6C

(Previous name: keratin 6E)
(Previous symbol: KRT6E)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Keratin 6C1 2     cytokeratin-6C2
KRT6E1 2 3     cytokeratin-6E2
Keratin 6E1 2     Keratin, Type II Cytoskeletal 6C2
Keratin K6h2 3     keratin-6C2
Type-II Keratin Kb122 3     Cytokeratin-6C3
CK-6C2 3     Cytokeratin-6E3
CK-6E2 3     Keratin-6C3
K6C2 3     PPKNEFD5
K6E2     

External Ids:    HGNC: 204061   Entrez Gene: 2868872   Ensembl: ENSG000001704657   OMIM: 6123155   UniProtKB: P486683   

Export aliases for KRT6C gene to outside databases

Previous GC identifers: GC12U990221 GC12M052911 GC12M052597 GC12M051169 GC12M051172 GC12M051174 GC12M051150 GC12M049906


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KRT6C Gene:
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)

GeneCards Summary for KRT6C Gene:
KRT6C (keratin 6C) is a protein-coding gene. Diseases associated with KRT6C include focal palmoplantar keratoderma, and krt6a-related pachyonychia congenita. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT74.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the KRT6C gene promoter:
         AREB6   AML1a   Pax-5   FOXO4   STAT5A   HNF-4alpha1   YY1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT6C promoter sequence
   Search Chromatin IP Primers for KRT6C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT6C


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

KRT6C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT6C gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M052865:  view genomic region     (about GC identifiers)

Start:
52,862,300 bp from pter      End:
52,867,569 bp from pter
Size:
5,270 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: K2C6C_HUMAN, P48668 (See protein sequence)
Recommended Name: Keratin, type II cytoskeletal 6C  
Size: 564 amino acids; 60025 Da
Subunit: Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17
Miscellaneous: There are at least six isoforms of human type II keratin-6 (K6)
Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to
basic) (40-55 and 56-70 kDa, respectively)
Secondary accessions: A1L4L5 P48666 Q2TAZ9 Q7RTN9

Explore the universe of human proteins at neXtProt for KRT6C: NX_P48668

Explore proteomics data for KRT6C at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys173, Lys180, Lys252
  • Modification sites at PhosphoSitePlus

  • See KRT6C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_775109.2  
    ENSEMBL proteins: 
     ENSP00000252250  

    KRT6C Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IFF2: Intermediate filaments type II, keratins (basic)

    3 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR003054 Keratin_II

    Graphical View of Domain Structure for InterPro Entry P48668

    ProtoNet protein and cluster: P48668

    2 Blocks protein domains:
    IPB001664 Intermediate filament protein
    IPB003054 Type II keratin signature


    UniProtKB/Swiss-Prot: K2C6C_HUMAN, P48668
    Similarity: Belongs to the intermediate filament family


    KRT6C for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
         
    KRT6C for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KRT6C:
     Decreased viability with pacli 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KRT6C
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    miRNA
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    miRTarBase miRNAs that target KRT6C:
    hsa-mir-132-3p (MIRT021778)

    Block miRNA regulation of human, mouse, rat KRT6C using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate KRT6C:
    hsa-miR-2278
    SwitchGear 3'UTR luciferase reporter plasmidKRT6C 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KRT6C

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus3
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005882intermediate filament NAS9054461
    GO:0045095keratin filament IEA--

    KRT6C for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KRT6C About    
    See pathways by source

    SuperPathContained pathways About
    1Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments
    2Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for KRT6C
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for KRT6C
        Cytoskeleton remodeling Keratin filaments



    KRT6C for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KRT6C
    Interactions:

        Search GeneGlobe Interaction Network for KRT6C

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    Selected Interacting proteins for KRT6C (P486683 ENSP000002522504) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPO951663I2D: score=2 
    GABARAPL1Q9H0R83I2D: score=2 
    AMBRA1Q9C0C73I2D: score=1 
    ATG101Q9BSB43I2D: score=1 
    ATG12O948173I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization ----

    KRT6C for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KRT6C (K2C6C)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KRT6C gene: 
    NM_173086.4  

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252250(uc001sal.4) ENST00000553087
    miRNA
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    Block miRNA regulation of human, mouse, rat KRT6C using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate KRT6C:
    hsa-miR-2278
    SwitchGear 3'UTR luciferase reporter plasmidKRT6C 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for KRT6C
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      QuantiFast Probe-based Assays in human, mouse, rat KRT6C

    4 AceView cDNA sequences:

    BQ351997 BF835702 BG997608 BG997611 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KRT6C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGCACAAG
    KRT6C Expression
    About this image

    KRT6C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT6C Protein Expression

    UniProtKB/Swiss-Prot: K2C6C_HUMAN, P48668
    Tissue specificity: Constitutively expressed in distinct types of epithelia such as those in oral mucosa,
    esophagus, papillae of tongue and hair follicle outer root sheath

        Custom PCR Arrays for KRT6C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT6C

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KRT6C gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves KRT6A6
    KRT756
    Gallus gallus keratin 75 (KRT75), mRNA.
    72(a)
    66(a)
    many ↔ many
    many ↔ many
    LGE22C19W28_E50C23(679789-684914)
    LGE22C19W28_E50C23(688657-692492)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    67(a)
    1 → many
    2(95720906-95731292)
            Species with no ortholog for KRT6C

    ENSEMBL Gene Tree for KRT6C (if available)
    TreeFam Gene Tree for KRT6C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRT6C gene
    KRT742  KRT772  KRT6B2  KRT832  KRT762  KRT32  KRT842  KRT862  
    KRT82  KRT812  KRT712  KRT72  KRT792  KRT722  KRT732  KRT52  
    KRT6A2  KRT852  KRT22  KRT752  KRT12  KRT822  KRT42  
    Selected SIMAP similar genes for KRT6C using alignment to 1 protein entry:     K2C6C_HUMAN(see all similar genes):
    KRT6A    KRT6B    KRT5    KRT7    KRT75    KRT79
    KRT4    KRT121P    KRT72    KRT1B    KRT2    KRT1
    KRT78    KRT74    KRT77    KRT71    KRT73    KRT76

    KRT6C for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KRT6C (see all 382)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1890553581,2
    --49905702(+) TGCACA/GGTCTC 1 -- ds50010--------
    rs38436491,2
    C,F,A,H--49905760(+) TATTGA/GTTGCT 1 -- ds500119Minor allele frequency- G:0.23EA NA NS WA CSA 1056
    rs100831031,2
    C,F,H--49905763(+) TGATTG/ACTGTT 1 -- ds50016Minor allele frequency- A:0.03NS EA WA 536
    rs4313381,2
    C,F,A--49905863(+) TATTTG/AGCCAA 1 -- ds500110Minor allele frequency- A:0.43NA EA 388
    rs3703541,2
    C,F,A,H--49905939(+) AAGTCC/TGAGGG 1 -- ds500117Minor allele frequency- T:0.30NS EA NA WA CSA 788
    rs38478301,2
    C,F,A,H--49906028(+) CAAACA/GTTTAG 1 -- ds500110Minor allele frequency- G:0.22NA WA EA 506
    rs1816077561,2
    --49906098(+) CCTCTC/GTAAAG 1 -- ds50010--------
    rs1493681331,2
    --49906147(+) AAAAAC/TAAAAA 1 -- ds50010--------
    rs3890451,2
    C,F,A--49906155(+) AAAGGC/TGTTTG 1 -- ds500110Minor allele frequency- T:0.42NA EA 390
    rs568797501,2
    C--49906260(+) CACAGG/AGAGAA 1 -- ut312Minor allele frequency- A:0.09WA 120

    HapMap Linkage Disequilibrium report for KRT6C (52862300 - 52867569 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for KRT6C:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660079CNV Deletion23128226
    esv2745892CNV Deletion23290073
    dgv95n21CNV Loss19592680
    nsv832412CNV Loss17160897
    esv2751106CNV Loss17911159
    nsv832411CNV Loss17160897
    nsv899090CNV Loss21882294
    esv7827CNV Loss19470904
    nsv899091CNV Gain21882294
    nsv832410CNV Gain17160897

    Human Gene Mutation Database (HGMD): KRT6C
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT6C
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT6C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612315   
    OMIM disorders: 615735  
    7 diseases for KRT6C:    
    About MalaCards
    focal palmoplantar keratoderma    krt6a-related pachyonychia congenita    palmoplantar keratoderma, epidermolytic    pachyonychia congenita
    palmoplantar keratosis    keratoderma    keratosis


    KRT6C for disorders           About GeneDecksing


    Export disorders for KRT6C gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KRT6C gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with KRT6C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms. (PubMed id 7543104)1, 2, 3 Takahashi K.... Coulombe P.A. (J. Biol. Chem. 1995)
    2. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (J. Cell Biol. 2006)
    3. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)1, 2 Scherer S.E.... Gibbs R.A. (Nature 2006)
    4. Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18. (PubMed id 11683385)1, 2 Hesse M.... Weber K. (J. Cell Sci. 2001)
    5. Phosphorylation of human keratin 8 in vivo at conserved head domain serine 23 and at epidermal growth factor-stimulated tail domain serine 431. (PubMed id 9054461)1, 2 Ku N.-O. and Omary M.B. (J. Biol. Chem. 1997)
    6. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    7. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PubMed id 21565611)1 Sang L.... Jackson P.K. (Cell 2011)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)1 Shi Y....Qin J. (amp 2011)
    10. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 286887 HGNC: 20406 AceView: KRT6E Ensembl:ENSG00000170465 euGenes: HUgn286887
    ECgene: KRT6C H-InvDB: KRT6C

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KRT6C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KRT6C gene:
    Search GeneIP for patents involving KRT6C

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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