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KRT14 Gene

protein-coding   GIFtS: 66
GCID: GC17M039738

Keratin 14

(Previous names: keratin 14 (epidermolysis bullosa simplex, Dowling-Meara,...)
(Previous symbols: EBS3, EBS4)
  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 141 2     CK142
EBS31 2     NFJ2
EBS41 2     Cytokeratin 142
Keratin 14 (Epidermolysis Bullosa Simplex, Dowling-Meara, Koebner)1 2     cytokeratin-142
CK-142 3     Keratin, Type I Cytoskeletal 142
K142 3     keratin-142
Dowling-Meara1     Cytokeratin-143
Koebner1     Keratin-143
Epidermolysis Bullosa Simplex1     

External Ids:    HGNC: 64161   Entrez Gene: 38612   Ensembl: ENSG000001868477   OMIM: 1480665   UniProtKB: P025333   

Export aliases for KRT14 gene to outside databases

Previous GC identifers: GC17M038859 GC17P041732 GC17M039543 GC17M040111 GC17M036993 GC17M035501


(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 KRT14 Gene:
This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene
product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin.
Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated
with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. (provided by
RefSeq, Jul 2008)

GeneCards Summary for KRT14 Gene:
KRT14 (keratin 14) is a protein-coding gene. Diseases associated with KRT14 include mammary paget's disease, and thyroid hurthle cell adenoma. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is KRT34.

UniProtKB/Swiss-Prot: K1C14_HUMAN, P02533
Function: The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large
bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro

Gene Wiki entry for KRT14 (Keratin 14) 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_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRT14 gene promoter:
         TBP   Sp1   AP-2alpha isoform 3   AP-2alpha isoform 2   C/EBPalpha   STAT3   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT14 promoter sequence
   Search Chromatin IP Primers for KRT14

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT14


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

Entrez Gene cytogenetic band: 17q21.2   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21.2

KRT14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT14 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039738:  view genomic region     (about GC identifiers)

Start:
39,738,531 bp from pter      End:
39,743,173 bp from pter
Size:
4,643 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: K1C14_HUMAN, P02533 (See protein sequence)
Recommended Name: Keratin, type I cytoskeletal 14  
Size: 472 amino acids; 51561 Da
Subunit: Heterotetramer of two type I and two type II keratins. disulfide-linked keratin-14 associates with
keratin-5. Interacts with TRADD and with keratin filaments. Associates with other type I keratins
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 KRT14:
3TNU (3D)    
Secondary accessions: Q14715 Q53XY3 Q9BUE3 Q9UBN2 Q9UBN3 Q9UCY4

Explore the universe of human proteins at neXtProt for KRT14: NX_P02533

Explore proteomics data for KRT14 at MOPED

Post-translational modifications: 

  • A disulfide bond is formed between rather than within filaments and promotes the formation of a keratin filament
    cage around the nucleus1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KRT14 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000517.2  
    ENSEMBL proteins: 
     ENSP00000167586  
    Reactome Protein details: P02533

    KRT14 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Custom MassSpec
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    Novus Biologicals KRT14 Proteins
    Novus Biologicals KRT14 Lysates
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    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for KRT14
    Cloud-Clone Corp. Proteins for KRT14

    KRT14 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of KRT14
    R&D Systems Antibodies for KRT14 (Cytokeratin 14)
    OriGene Antibodies for KRT14
    OriGene Custom Antibody Services for KRT14
    Novus Biologicals KRT14 Antibodies
    Abcam antibodies for KRT14 (P13646, P08779, P02533)
    Cloud-Clone Corp. Antibodies for KRT14
    ThermoFisher Antibody for KRT14
    LSBio Antibodies in human, mouse, rat for KRT14

    KRT14 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 KRT14
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KRT14
    Cloud-Clone Corp. CLIAs for KRT14


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IFF1: Intermediate filaments type I, keratins (acidic)

    4 InterPro protein domains:
     IPR009053 Prefoldin
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR002957 Keratin_I

    Graphical View of Domain Structure for InterPro Entry P02533

    ProtoNet protein and cluster: P02533

    2 Blocks protein domains:
    IPB001664 Intermediate filament protein
    IPB002957 Type I keratin signature


    UniProtKB/Swiss-Prot: K1C14_HUMAN, P02533
    Similarity: Belongs to the intermediate filament family


    KRT14 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:

         UniProtKB/Swiss-Prot Summary: K1C14_HUMAN, P02533
    Function: The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large
    bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro

         Genatlas biochemistry entry for KRT14:
    keratin 14,type I,basal layer,dimerizing with KRT5

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton TAS7525408
    GO:0005515protein binding IPI10852826
         
    KRT14 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Krt14) (see all 16):
     adipose tissue  cellular  craniofacial  digestive/alimentary  growth/size/body 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system  integument 
     mortality/aging  pigmentation  reproductive system  respiratory system  tumorigenesis 

    KRT14 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Krt14tm1Efu for KRT14

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KRT14
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KRT14

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KRT14
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KRT14

    miRNA
    Products:
        
    miRTarBase miRNAs that target KRT14:
    hsa-mir-124-3p (MIRT023065), hsa-mir-122-5p (MIRT023354)

    Block miRNA regulation of human, mouse, rat KRT14 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate KRT14
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for KRT14
    Predesigned siRNA for gene silencing in human, mouse, rat KRT14

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KRT14

    Clone
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    OriGene clones in human, mouse for KRT14 (see all 7)
    OriGene ORF clones in mouse, rat for KRT14
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KRT14 (NM_000526)
    Sino Biological Human cDNA Clone for KRT14
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT14
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT14

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for KRT14 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT14


    (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 UniProtKB/Swiss-Prot
    K1C14_HUMAN, P02533: Cytoplasm. Nucleus. Note=Expressed in both as a filamentous pattern
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol4
    extracellular2
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA11724817
    GO:0005737cytoplasm IDA11724817
    GO:0005829cytosol TAS--
    GO:0005882intermediate filament IDA10852826

    KRT14 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 KRT14 About    
    See pathways by source

    SuperPathContained pathways About
    1Glucocorticoid receptor regulatory network
    Glucocorticoid receptor regulatory network
    2Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments
    3Corticotropin-releasing hormone
    Corticotropin-releasing hormone

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for KRT14
        Cytoskeleton remodeling Keratin filaments

    2 BioSystems Pathways for KRT14
        Corticotropin-releasing hormone
    Glucocorticoid receptor regulatory network


    1 Reactome Pathway for KRT14
        Type I hemidesmosome assembly



    KRT14 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including KRT14 (see all 6): 
              Notch Signaling Targets in human mouse rat
              Lung Cancer in human mouse rat
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Cancer PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KRT14

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for KRT14 (P025333 ENSP000001675864) via UniProtKB, MINT, STRING, and/or I2D (see all 90)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000235068Q018603, ENSP000004050414I2D: score=1 STRING: ENSP00000405041
    ENSG00000206454Q018603I2D: score=1 
    ENSG00000229094Q018603I2D: score=1 
    ENSG00000230336Q018603I2D: score=1 
    ENSG00000233911Q018603I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008544epidermis development TAS7525408
    GO:0010043response to zinc ion IEA--
    GO:0010212response to ionizing radiation IEA--
    GO:0030855epithelial cell differentiation IEA--
    GO:0031581hemidesmosome assembly TAS--

    KRT14 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 KRT14 (K1C14)

    Selected Novoseek inferred chemical compound relationships for KRT14 gene (see all 39)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mucicarmine 47.4 2 11136565 (1), 11023104 (1)
    progesterone 41.7 22 18536655 (1), 18715613 (1), 20340005 (1), 19479727 (1) (see all 20)
    hpvs 39.4 2 11774168 (1)
    calcipotriol 37.7 1 8615633 (1)
    estrogen 37.2 18 18375895 (2), 18536655 (1), 18715613 (1), 20340005 (1) (see all 14)
    hematoxylin 36.3 2 16679481 (1), 18305433 (1)
    isotretinoin 34.1 3 7967513 (1), 10983416 (1)
    retinoic acid 31.1 10 1711202 (1), 1284070 (1), 10983416 (1), 15482329 (1) (see all 6)
    paraffin 29.8 2 19319956 (1), 17912630 (1)
    retinoid 24.4 1 1376755 (1)



    KRT14 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 KRT14 gene: 
    NM_000526.4  

    Unigene Cluster for KRT14:

    Keratin 14
    Hs.654380  [show with all ESTs]
    Unigene Representative Sequence: BC042437
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000167586(uc002hxf.2) ENST00000441550 ENST00000476662
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KRT14 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate KRT14
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KRT14
    Clone
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    OriGene ORF clones in mouse, rat for KRT14
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KRT14 (NM_000526)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT14
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT14
    Primer
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    OriGene qPCR primer pairs and template standards for KRT14
    OriGene qSTAR qPCR primer pairs in human, mouse for KRT14
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KRT14
      QuantiTect SYBR Green Assays in human, mouse, rat KRT14
      QuantiFast Probe-based Assays in human, mouse, rat KRT14

    Additional mRNA sequence: 

    AK309280.1 BC002690.2 BC019097.2 BC042437.1 BC094830.1 BT007186.1 M28646.1 

    Selected DOTS entries (see all 86):

    DT.95164414  DT.91778104  DT.120985815  DT.91668763  DT.100798829  DT.97841180  DT.120986157  DT.92339664 
    DT.100798819  DT.120985939  DT.95164370  DT.97841197  DT.86843680  DT.100798830  DT.91849837  DT.120986284 
    DT.95206028  DT.120986429  DT.92397656  DT.95211715  DT.97841204  DT.100798837  DT.120986418  DT.91778130 

    Selected AceView cDNA sequences (see all 659):

    CB127326 BC072018 BI823396 CA433474 BM018948 AU120147 CR608685 CR618671 
    AA587150 BG682253 AU117850 X62571 CR599390 AI609210 AK095342 NM_000422 
    BG676127 AU117282 AW675275 CR595280 CR613487 BG680252 BM910160 CB149996 

    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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    KRT14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATGTGCACG
    KRT14 Expression
    About this image


    KRT14 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Epidermis (Integumentary System)    fully expand to see all 12 entries
             Basal Keratinocytes Embryonic Epidermis
             Stratified Epidermis
             Full-thickness skin substitutes
             Purified keratinocyte-like cells
             Human EpiDermal Keratinocytes (HEK)   
     
     Epithelial Cells
             Fetal Corneal Basal Epithelial Cells Corneal Epithelium
     
     Hair
             Primary Hair Placode Cells Hair Follicle
     
     Eye (Sensory Organs)    fully expand to see all 10 entries
             Fetal Corneal Basal Epithelial Cells Corneal Epithelium
             Conjunctival Epithelium
             Limbal epithelial stem cells (family)
     
     Ectoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Surface Ectoderm Cells Surface Ectoderm
             Activin-induced cells
    KRT14 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT14 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654380

    UniProtKB/Swiss-Prot: K1C14_HUMAN, P02533
    Tissue specificity: Detected in the basal layer, lowered within the more apically located layers specifically in
    the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer
    root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair. Found in
    keratinocytes surrounding the club hair during telogen

        Pathway & Disease-focused RT2 Profiler PCR Arrays including KRT14 (see all 6): 
              Notch Signaling Targets in human mouse rat
              Lung Cancer in human mouse rat
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Cancer PathwayFinder in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for KRT14
    OriGene qSTAR qPCR primer pairs in human, mouse for KRT14
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KRT14
    QuantiTect SYBR Green Assays in human, mouse, rat KRT14
    QuantiFast Probe-based Assays in human, mouse, rat KRT14
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT14

    (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 KRT14 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt141 , 5 keratin 141, 5 92.05(n)1
    95.07(a)1
      11 (63.43 cM)5
    166641  NM_016958.11  NP_058654.11 
     1002031625 
    chicken
    (Gallus gallus)
    Aves KRT146
    --
    keratin, type I cytoskeletal 14-like
    70(a)
    69(a)
    many ↔ many
    many ↔ many
    27(4618778-4622608)
    27(4625662-4629416)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    67(a)
    67(a)
    many ↔ many
    many ↔ many
    6(70865282-70875799)
    6(70841228-70856140)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC042927.12   -- 74.37(n)    BC042927.1 


    ENSEMBL Gene Tree for KRT14 (if available)
    TreeFam Gene Tree for KRT14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRT14 gene
    KRT342  KRT172  KRT162  KRT312  KRT252  KRT392  KRT402  KRT202  
    KRT372  KRT272  KRT322  KRT382  KRT362  KRT192  KRT282  KRT132  
    KRT262  KRT102  KRT122  KRT352  KRT152  KRT242  KRT33B2  KRT92  
    KRT33A2  
    Selected SIMAP similar genes for KRT14 using alignment to 1 protein entry:     K1C14_HUMAN(see all similar genes):
    K14    KRT16    GUCA1B    keratin    KRT15    JUP
    KRT13    KRT33A    KRT34    KRT10    KRT17    KRT20
    KRT31    KRT33B    KRT40    KRT9    KRT32    KRT39

    KRT14 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for KRT14
    PGOHUM00000236938 PGOHUM00000237076


    (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 KRT14 (see all 394)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs597802311,2,,4
    C,FEpidermolysis bullosa simplex, Koebner type (K-EBS)4 untested140527058(-) AGATCA/C/GCCACC 3 T P A mis12NA EU 5676
    rs572002231,2,,4
    Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4 untested140527073(-) CGCGGA/CTGGAG 2 M L mis10--------
    rs586451631,2,,4
    C,FEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4 untested140527132(-) GCTCCA/C/GCTGCG 2 P R mis12NA EU 5767
    rs599665971,2,,4
    CEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4 untested140527133(-) AGCTCC/G/TGCTGC 3 R G C mis10--------
    rs596292441,2,,4
    CEpidermolysis bullosa simplex, Koebner type (K-EBS)4 pathogenic140527144(-) GCAGCC/TGGCCC 2 P L mis10--------
    rs615368931,2,,4
    CEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4 untested140527165(-) GATGAA/C/TTGGCA 3 N T I mis10--------
    rs587857771,2,,4
    Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4 untested140527652(-) GGACGA/CTGCAC 2 D A mis10--------
    rs593750651,2,,4
    Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4 untested140527655(-) GATGGA/GCGCTG 2 D G mis10--------
    rs613715571,2,,4
    CEpidermolysis bullosa simplex, Koebner type (K-EBS)4 pathogenic140527658(-) GGAGAC/G/TGGACG 3 T R M mis10--------
    rs585609791,2,,4
    Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4 untested140527665(-) TCAATA/GTGGAG 2 M V mis10--------

    HapMap Linkage Disequilibrium report for KRT14 (39738531 - 39743173 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KRT14 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv471400CNV Duplication19718026
    nsv2053CNV Insertion18451855
    esv22954CNV Loss19812545
    nsv9557CNV Loss18304495
    nsv827993CNV Loss20364138
    nsv9556CNV Gain18304495
    esv34903CNV Gain17911159
    nsv827992CNV Gain20364138
    dgv962e1CNV Complex17122850
    nsv514846CNV Complex21397061

    Human Gene Mutation Database (HGMD): KRT14
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing KRT14
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT14

    (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: 148066   
    OMIM disorders: 131760  131900  601001  161000  125595  131800  
    UniProtKB/Swiss-Prot: K1C14_HUMAN, P02533
  • 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, 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, autosomal recessive 1 (EBSB1) [MIM:601001]: An intraepidermal
    epidermolysis bullosa characterized by localized blistering on the dorsal, lateral and plantar surfaces of the
    feet. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Naegeli-Franceschetti-Jadassohn syndrome (NFJS) [MIM:161000]: A rare autosomal dominant form of
    ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous
    hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar
    keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy,
    and tooth enamel defects. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Dermatopathia pigmentosa reticularis (DPR) [MIM:125595]: A rare ectodermal dysplasia characterized by
    lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features
    include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for KRT14 (see all 108):    
    About MalaCards
    mammary paget's disease    thyroid hurthle cell adenoma    naegeli-franceschetti-jadassohn syndrome/dermatopathia pigmentosa reticularis    epidermolysis bullosa simplex, recessive 1
    epidermolysis bullosa simplex, localized    epithelial-myoepithelial carcinoma    epidermolysis bullosa    cell type cancer
    epidermolysis bullosa simplex    naegeli syndrome    dermatopathia pigmentosa reticularis    epidermolysis bullosa simplex, generalized
    epidermolysis bullosa simplex, dowling-meara type    mixed cell type cancer    pleomorphic carcinoma    bladder squamous cell carcinoma
    spiradenoma    epidermolysis bullosa simplex with mottled pigmentation    epidermolysis bullosa simplex, sutosomal recessive 2    epidermolysis bullosa simplex-mp

    10 diseases from the University of Copenhagen DISEASES database for KRT14:
    Epidermolysis bullosa simplex     Carcinoma     Myoepithelioma     Breast cancer
    Papilloma     Thyroid hurthle cell adenoma     epithelial-myoepithelial carcinoma     Ductal carcinoma in situ
    Skin cancer     Syringoma

    KRT14 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for KRT14 gene (see all 84)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epidermolysis bullosa simplex 96.2 80 10733662 (3), 12655565 (2), 7526933 (2), 11356849 (2) (see all 64)
    epidermolysis bullosa simplex, dowling-meara type 73.2 3 1721080 (1), 16439965 (1)
    epidermolysis bullosa 71.5 4 8435522 (1), 7537032 (1), 17476356 (1), 18713255 (1)
    myoepithelioma 70 3 7542546 (2), 12610349 (1)
    skin diseases genetic 62.8 1 17476356 (1)
    carcinoma 62.6 38 11859206 (5), 9833698 (3), 10534158 (2), 12207786 (1) (see all 22)
    hyperkeratosis 60.8 6 9804355 (2), 14987259 (1), 16356392 (1)
    carcinoma ductal 58.9 10 1384227 (2), 17522367 (1), 12884041 (1), 10680887 (1) (see all 8)
    papilloma 56.3 14 16698948 (3), 16990761 (1), 9614560 (1), 9754566 (1)
    carcinoma squamous cell 55.8 20 11454039 (3), 18067814 (2), 16273259 (2), 15313863 (1) (see all 14)

    GeneTests: KRT14
    GeneReviews: KRT14
    Genetic Association Database (GAD): KRT14
    Human Genome Epidemiology (HuGE) Navigator: KRT14 (2 documents)

    Export disorders for KRT14 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 KRT14 gene, integrated from 10 sources (see all 613):
    (articles sorted by number of sources associating them with KRT14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. (PubMed id 1717157)1, 2, 3 Coulombe P.A....Fuchs E. (Cell 1991)
    2. Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis. (PubMed id 10733662)1, 2, 9 Hut P.H.L.... Scheffer H. (J. Invest. Dermatol. 2000)
    3. 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)
    4. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. (PubMed id 16960809)1, 2, 9 Lugassy J.... Sprecher E. (Am. J. Hum. Genet. 2006)
    5. 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)
    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. Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. (PubMed id 16786515)1, 2, 9 Mueller F.B.... Arin M.J. (Hum. Mutat. 2006)
    8. Epidermolysis bullosa simplex in Israel: clinical and genetic features. (PubMed id 12707098)1, 2, 9 Ciubotaru D.... Sprecher E. (Arch. Dermatol. 2003)
    9. A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. (PubMed id 7526933)1, 2, 9 Hovnanian A....Goossens M. (Nat. Genet. 1993)
    10. Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. (PubMed id 14987259)1, 2, 9 Csikos M....Karpati S. (Exp. Dermatol. 2004)

    (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: 3861 HGNC: 6416 AceView: KRT17andKRT14andKRT16 Ensembl:ENSG00000186847 euGenes: HUgn3861
    ECgene: KRT14 H-InvDB: KRT14

    (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 KRT14 Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KRT14[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KRT14 gene:
    Search GeneIP for patents involving KRT14

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



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