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KRT5 Gene

protein-coding   GIFtS: 66
GCID: GC12M052908

Keratin 5

(Previous names: epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne...)
(Previous symbol: EBS2)
  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 51 2     DDD12 5
EBS21 2     CK52
Epidermolysis Bullosa Simplex 2 Dowling-Meara/Kobner/Weber-Cockayne Types1 2     DDD2
Keratin 5 (Epidermolysis Bullosa Simplex,
Dowling-Meara/Kobner/Weber-Cockayne Types)1 2
     KRT5A2
58 KDa Cytokeratin2 3     cytokeratin-52
Type-II Keratin Kb52 3     Keratin, Type II Cytoskeletal 52
CK-52 3     Cytokeratin-53
K52 3     Keratin-53

External Ids:    HGNC: 64421   Entrez Gene: 38522   Ensembl: ENSG000001860817   OMIM: 1480405   UniProtKB: P136473   

Export aliases for KRT5 gene to outside databases

Previous GC identifers: GC12M052976 GC12M052938 GC12M052625 GC12M051194 GC12M049953


(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 KRT5 Gene:
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic
or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation
of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal
layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of
diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome
12q12-q13. (provided by RefSeq, Jul 2008)

GeneCards Summary for KRT5 Gene:
KRT5 (keratin 5) is a protein-coding gene. Diseases associated with KRT5 include vulvar intraepithelial neoplasia, and ceruminoma. GO annotations related to this gene include scaffold protein binding and structural constituent of cytoskeleton. An important paralog of this gene is KRT74.

Gene Wiki entry for KRT5 (Keratin 5) Gene


(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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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRT5 gene promoter:
         AP-1   p53   COMP1   NRSF form 1   ATF-2   c-Jun   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT5 promoter sequence
   Search Chromatin IP Primers for KRT5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT5


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

KRT5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT5 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M052908:  view genomic region     (about GC identifiers)

Start:
52,908,359 bp from pter      End:
52,914,471 bp from pter
Size:
6,113 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: K2C5_HUMAN, P13647 (See protein sequence)
Recommended Name: Keratin, type II cytoskeletal 5  
Size: 590 amino acids; 62378 Da
Subunit: Heterotetramer of two type I and two type II keratins. Keratin-5 associates with keratin-14. Interacts
with TCHP
Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II
(neutral to basic; 56-70 kDa)
1 PDB 3D structure from and Proteopedia for KRT5:
3TNU (3D)    
Secondary accessions: Q6PI71 Q6UBJ0 Q8TA91

Explore the universe of human proteins at neXtProt for KRT5: NX_P13647

Explore proteomics data for KRT5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys178, Lys185, Lys257
  • Modification sites at PhosphoSitePlus

  • See KRT5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000415.2  
    ENSEMBL proteins: 
     ENSP00000252242   ENSP00000448767   ENSP00000449783   ENSP00000447209   ENSP00000448041  
     ENSP00000449651  
    Reactome Protein details: P13647

    KRT5 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for KRT5
    OriGene Custom MassSpec
    OriGene Custom Protein Services for KRT5
    GenScript Custom Purified and Recombinant Proteins Services for KRT5
    Novus Biologicals KRT5 Protein
    Novus Biologicals KRT5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KRT5

    KRT5 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of KRT5
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for KRT5  (K5)
    OriGene Antibodies for KRT5
    OriGene Custom Antibody Services for KRT5
    Novus Biologicals KRT5 Antibodies
    Abcam antibodies for KRT5 (P13647, P19013, P12035, P04259, P02538)
    Cloud-Clone Corp. Antibodies for KRT5
    ThermoFisher Antibody for KRT5
    LSBio Antibodies in human, mouse, rat for KRT5

    KRT5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for KRT5
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KRT5
    Cloud-Clone Corp. CLIAs for KRT5


    (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 P13647

    ProtoNet protein and cluster: P13647

    3 Blocks protein domains:
    IPB001664 Intermediate filament protein
    IPB002957 Type I keratin signature
    IPB003054 Type II keratin signature


    UniProtKB/Swiss-Prot: K2C5_HUMAN, P13647
    Similarity: Belongs to the intermediate filament family


    KRT5 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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    Molecular Function:
         Genatlas biochemistry entry for KRT5:
    keratin 5,type II,basal layer,dimerizing with KRT14

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton TAS7520042
    GO:0005515protein binding IPI10727209
    GO:0097110scaffold protein binding IPI10852826
         
    KRT5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KRT5:
     Decreased nuclei size in G2M 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Krt5):
     behavior/neurological  craniofacial  digestive/alimentary  integument  limbs/digits/tail 
     mortality/aging  no phenotypic analysis 

    KRT5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Krt5tm1Tmm for KRT5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KRT5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KRT5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KRT5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KRT5

    miRNA
    Products:
        
    miRTarBase miRNAs that target KRT5:
    hsa-mir-335-5p (MIRT017843), hsa-mir-196a-5p (MIRT000221)

    Block miRNA regulation of human, mouse, rat KRT5 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate KRT5:
    hsa-miR-3163 hsa-miR-2052 hsa-miR-656 hsa-miR-127-5p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidKRT5 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KRT5
    Predesigned siRNA for gene silencing in human, mouse, rat KRT5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KRT5

    Clone
    Products:
         
    OriGene clones in human, mouse for KRT5 (see all 6)
    OriGene ORF clones in mouse, rat for KRT5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KRT5 (NM_000424)
    Sino Biological Human cDNA Clone for KRT5
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT5

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for KRT5
    Browse ESI BIO Cell Lines and PureStem Progenitors for KRT5 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT5


    (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
    cytosol4
    mitochondrion2
    nucleus2
    plasma membrane2
    extracellular1
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0005882intermediate filament IDA10852826
    GO:0005886plasma membrane IEA--

    KRT5 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 KRT5 About    
    See pathways by source

    SuperPathContained pathways About
    1Glucocorticoid receptor regulatory network
    Glucocorticoid receptor regulatory network
    2Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments
    3Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for KRT5
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for KRT5
        Cytoskeleton remodeling Keratin filaments

    1 BioSystems Pathway for KRT5
        Glucocorticoid receptor regulatory network


    1 Reactome Pathway for KRT5
        Type I hemidesmosome assembly



    KRT5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including KRT5: 
              Lung Cancer in human mouse rat
              Cell Surface Markers in human mouse rat
              Breast Cancer in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KRT5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KRT5 (P136471, 3 ENSP000002522424) via UniProtKB, MINT, STRING, and/or I2D (see all 94)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALOX12P180541, 3, ENSP000002515354EBI-702187,EBI-1633210 I2D: score=6 STRING: ENSP00000251535
    APCP250543, ENSP000002574304I2D: score=3 STRING: ENSP00000257430
    KRT18P057833, ENSP000003734874I2D: score=2 STRING: ENSP00000373487
    PKP2Q999593, ENSP000000708464I2D: score=2 STRING: ENSP00000070846
    BTKQ061873, ENSP000003081764I2D: score=1 STRING: ENSP00000308176
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008544epidermis development TAS7520042
    GO:0031581hemidesmosome assembly TAS--
    GO:0034329cell junction assembly TAS--

    KRT5 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 KRT5 (K2C5)

    Selected Novoseek inferred chemical compound relationships for KRT5 gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kalinin 70.2 1 7530560 (1)
    estrogen 42.3 24 19675450 (2), 17214855 (1), 19221640 (1), 18752048 (1) (see all 13)
    retinoid 41 1 7682522 (1)
    retinoic acid 36.8 6 7505782 (3), 1284070 (1), 12890214 (1)
    acitretin 27.2 2 1373746 (2)
    calcipotriol 26.3 2 1373949 (2)
    progesterone 24.1 15 16241993 (1), 19221640 (1), 19567831 (1), 16266999 (1) (see all 11)
    paraffin 20.2 1 19514352 (1)
    valine 19.2 1 9740251 (1)
    asparagine 17.5 2 15102078 (1), 7534039 (1)



    KRT5 for compounds           About GeneDecksing



    (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 KRT5 gene: 
    NM_000424.3  

    Unigene Cluster for KRT5:

    Keratin 5
    Hs.433845  [show with all ESTs]
    Unigene Representative Sequence: M21389
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252242(uc001san.3) ENST00000552952 ENST00000549511 ENST00000548409
    ENST00000552629(uc009zmh.3) ENST00000547890 ENST00000551013 ENST00000551188
    ENST00000549420 ENST00000551275 ENST00000546577
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KRT5 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate KRT5:
    hsa-miR-3163 hsa-miR-2052 hsa-miR-656 hsa-miR-127-5p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidKRT5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KRT5
    Clone
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    OriGene clones in human, mouse for KRT5 (see all 6)
    OriGene ORF clones in mouse, rat for KRT5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KRT5 (NM_000424)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT5
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for KRT5
    OriGene qSTAR qPCR primer pairs in human, mouse for KRT5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KRT5
      QuantiTect SYBR Green Assays in human, mouse, rat KRT5
      QuantiFast Probe-based Assays in human, mouse, rat KRT5

    Additional mRNA sequence: 

    AK093720.1 AK296823.1 AK303972.1 AK310827.1 AY373434.1 BC024292.1 BC042132.1 BC071906.1 
    M19723.1 M21389.1 

    Selected DOTS entries (see all 89):

    DT.95147644  DT.97861421  DT.92470157  DT.91647885  DT.97845743  DT.121119205  DT.92049484  DT.95214039 
    DT.95174976  DT.97845772  DT.121118495  DT.121118296  DT.92470136  DT.92408071  DT.100805796  DT.121118151 
    DT.121118662  DT.121118114  DT.121118882  DT.121118281  DT.121118676  DT.121118613  DT.95147651  DT.100805805 

    Selected AceView cDNA sequences (see all 404):

    AW366724 BQ350594 AW946461 BF915071 AA583975 BF876882 BF838929 BC008807 
    BF914819 AX748277 BQ330386 BF149187 AW243951 BT006899 CR612432 BQ378588 
    AK093720 BE140567 AW366728 BF873253 BF915078 AA586890 BF831594 BF838928 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KRT5 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11
    SP1:                                                                    -                       -               
    SP2:                                                                    -                                       
    SP3:                                                                                                            
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for KRT5

    (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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    KRT5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCCTGCTG
    KRT5 Expression
    About this image


    KRT5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Epithelial Cells
             Basal Keratinocytes Embryonic Epidermis
     
     Hair
             Primary Hair Placode Cells Hair Follicle
     
     Lung (Respiratory System)    fully expand to see all 5 entries
             Basal Cells Trachea
             Mature airway epithelial cells
     
     Epidermis (Integumentary System)    fully expand to see all 4 entries
             Basal Keratinocytes Embryonic Epidermis
             Keratinocytes-like cells
     
     Eye (Sensory Organs)    fully expand to see all 6 entries
             Conjunctival Superbasal Epithelial Cells Conjunctival Epithelium
             Conjunctival Epithelium
    KRT5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.433845
        Pathway & Disease-focused RT2 Profiler PCR Arrays including KRT5: 
              Lung Cancer in human mouse rat
              Cell Surface Markers in human mouse rat
              Breast Cancer in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for KRT5
    OriGene qSTAR qPCR primer pairs in human, mouse for KRT5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KRT5
    QuantiTect SYBR Green Assays in human, mouse, rat KRT5
    QuantiFast Probe-based Assays in human, mouse, rat KRT5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT5

    (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 KRT5 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt51 , 5 keratin 51, 5 85.57(n)1
    88.66(a)1
      15 (56.98 cM)5
    1103081  NM_027011.21  NP_081287.11 
     1017070705 
    chicken
    (Gallus gallus)
    Aves KRT51 keratin 5 72.88(n)
    73.16(a)
      407779  NM_001001195.2  NP_001001195.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    68(a)
    1 → many
    2(95720906-95731292)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia krt5.21 keratin 5, gene 2 68.22(n)
    71.97(a)
      779830  NM_001078909.1  NP_001072377.1 


    ENSEMBL Gene Tree for KRT5 (if available)
    TreeFam Gene Tree for KRT5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRT5 gene
    KRT742  KRT772  KRT6B2  KRT832  KRT762  KRT32  KRT842  KRT862  
    KRT82  KRT812  KRT712  KRT72  KRT792  KRT722  KRT732  KRT6C2  
    KRT6A2  KRT852  KRT22  KRT752  KRT12  KRT822  KRT42  
    Selected SIMAP similar genes for KRT5 using alignment to 7 protein entries:     K2C5_HUMAN (see all proteins) (see all similar genes):
    KRT6A    KRT6C    KRT1B    KRT6B    KRT75    KRT7
    KRT4    KRT72    KRT71    KRT77    KRT79    KRT3
    KRT121P    KRTHB6    KRT1    KRT8    KRT74    KRT73

    KRT5 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for KRT5
    PGOHUM00000261132 PGOHUM00000261133


    (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 KRT5 (see all 507)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs597301721,2,,4
    CEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4 pathogenic152745906(-) GACAAA/CAACCG 2 K N mis10--------
    rs571420101,2,,4
    CEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4 untested152745910(-) CATGGA/G/TCAACA 3 D G V mis10--------
    rs580726171,2,,4
    CEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4 pathogenic152745913(-) CTCCAA/C/TGGACA 3 K T M mis10--------
    rs593353251,2,,4
    CEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4 untested152745922(-) AGTGGA/C/TCCTCT 3 D A V mis10--------
    rs587666761,2,,4
    CEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4 untested152747331(-) CACCAA/C/G/
            
    GTGGA
    4 K T R M mis10--------
    rs605861631,2,,4
    CEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4 pathogenic152747348(-) CAGAAA/C/G/
            
    AAGGT
    4 K N mis1 syn10--------
    rs607152931,2,,4
    CEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)4 pathogenic152747967(-) TTGCCC/TCCTTC 2 P S mis10--------
    rs578904791,2,,4
    CEpidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)4 pathogenic152747985(-) AGACCC/TTCAAC 2 L F mis10--------
    rs581630691,2,,4
    CEpidermolysis bullosa simplex, Koebner type (K-EBS)4 pathogenic152747989(-) ATCAAC/GACCCT 2 N K mis10--------
    rs591154831,2,,4
    CEpidermolysis bullosa simplex, Koebner type (K-EBS)4 pathogenic152748000(-) AGCGCA/GAGCAG 2 K E mis10--------

    HapMap Linkage Disequilibrium report for KRT5 (52908359 - 52914471 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KRT5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv709CNV Insertion18451855
    nsv832412CNV Loss17160897

    Human Gene Mutation Database (HGMD): KRT5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT5
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 148040   
    OMIM disorders: 131760  131900  131800  131960  179850  609352  601001  
    UniProtKB/Swiss-Prot: K2C5_HUMAN, P13647
  • Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]: A severe form of intraepidermal
    epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and
    mucous membrane involvement. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Epidermolysis bullosa simplex, with migratory circinate erythema (EBSMCE) [MIM:609352]: A form of
    intraepidermal epidermolysis bullosa characterized by unusual migratory circinate erythema. Skin lesions appear
    from birth primarily on the hands, feet, and legs but spare nails, ocular epithelia and mucosae. Lesions heal
    with brown pigmentation but no scarring. Electron microscopy findings are distinct from those seen in the DM-EBS,
    with no evidence of tonofilament clumping. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]: A form of intraepidermal
    epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]: A form of intraepidermal epidermolysis
    bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the
    Dowling-Meara type, although it is less severe. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS) [MIM:131960]: A form of intraepidermal
    epidermolysis bullosa characterized by blistering at acral sites and 'mottled' pigmentation of the trunk and
    proximal extremities with hyper- and hypopigmentation macules. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Dowling-Degos disease 1 (DDD1) [MIM:179850]: An autosomal dominant genodermatosis. Affected individuals
    develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic
    dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities
    of the hair or nails. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for KRT5 (see all 74):    
    About MalaCards
    vulvar intraepithelial neoplasia    ceruminoma    epidermylysis bullosa simplex-mcr    hidradenocarcinoma
    dowling-degos disease 1    epidermolysis bullosa simplex with migratory circinate erythema    epidermolysis bullosa simplex with mottled pigmentation    epidermolysis bullosa simplex-mp
    epidermolysis bullosa simplex, other generalized    degos disease    epidermolysis bullosa simplex, recessive 1    epidermolysis bullosa simplex, localized
    epidermolysis bullosa simplex    dowling-degos disease 2    epidermolysis bullosa simplex, generalized    epidermolysis bullosa simplex, dowling-meara type
    dowling-degos disease    ichthyosis hystrix, curth macklin type    bladder squamous cell carcinoma    benign mesothelioma

    7 diseases from the University of Copenhagen DISEASES database for KRT5:
    Epidermolysis bullosa simplex     Carcinoma     Benign mesothelioma     Breast cancer
    Malignant mesothelioma     Ductal carcinoma in situ     Papilloma

    KRT5 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for KRT5 gene (see all 46)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epidermolysis bullosa simplex 97.2 90 12655565 (3), 12648226 (3), 15347343 (3), 10782015 (2) (see all 60)
    ebs-mp 91.9 4 10494094 (1), 8799157 (1), 16581562 (1), 15982306 (1)
    epidermolysis bullosa 77 3 8435522 (1), 7537032 (1), 19691749 (1)
    ichthyosis 61.1 2 16417221 (1)
    keratoderma palmoplantar 60.3 2 16417221 (1)
    skin diseases 58.4 6 9989794 (1), 12655565 (1), 17039244 (1), 20030639 (1)
    hyperkeratosis 56.8 1 11407989 (1)
    bullous congenital ichthyosiform erythroderma 54.9 1 10903910 (1)
    breast carcinoma 51.9 10 16241993 (2), 16938528 (1), 17123107 (1), 20049202 (1) (see all 7)
    carcinoma 50.1 15 16846983 (2), 1379783 (2), 19536621 (2), 15494931 (1) (see all 10)

    GeneTests: KRT5
    GeneReviews: KRT5
    Genetic Association Database (GAD): KRT5
    Human Genome Epidemiology (HuGE) Navigator: KRT5 (5 documents)

    Export disorders for KRT5 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 KRT5 gene, integrated from 10 sources (see all 409):
    (articles sorted by number of sources associating them with KRT5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. (PubMed id 12925204)1, 2, 4, 9 Gu L.-H.... Kitajima Y. (J. Invest. Dermatol. 2003)
    2. Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. (PubMed id 12655565)1, 2, 9 Schuilenga-Hut P.H.L.... Scheffer H. (Hum. Mutat. 2003)
    3. K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber- Cockayne). (PubMed id 10782015)1, 2, 9 Liovic M.... Komel R. (Hum. Hered. 2000)
    4. A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype. (PubMed id 15140024)1, 2, 9 Liovic M.... Komel R. (Exp. Dermatol. 2004)
    5. A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex. (PubMed id 15347343)1, 2, 9 Li J.-G.... Peng Z.-H. (Clin. Exp. Dermatol. 2004)
    6. Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. (PubMed id 9989794)1, 2, 9 Soerensen C.B.... Gregersen N. (J. Invest. Dermatol. 1999)
    7. A novel mutation in the L12 domain of keratin 5 in the Koebner variant of epidermolysis bullosa simplex. (PubMed id 9740251)1, 2, 9 Galligan P.... Rothnagel J.A. (J. Invest. Dermatol. 1998)
    8. Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. (PubMed id 9036937)1, 2, 9 Stephens K.... Sybert V.P. (J. Invest. Dermatol. 1997)
    9. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. (PubMed id 8799157)1, 2, 9 Uttam J.... Fuchs E. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    10. Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. (PubMed id 16882168)1, 2, 9 Yasukawa K....Shimizu H. (Br. J. Dermatol. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 3852 HGNC: 6442 AceView: KRT5 Ensembl:ENSG00000186081 euGenes: HUgn3852
    ECgene: KRT5 H-InvDB: KRT5

    (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 KRT5 Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KRT5[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KRT5 gene:
    Search GeneIP for patents involving KRT5

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



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