Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KRT9 Gene

protein-coding   GIFtS: 53
GCID: GC17M039722

Keratin 9

  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)
About This Section

Aliases
Keratin 91 2     Epidermolytic Palmoplantar Keratoderma1
Cytokeratin 91 2     cytokeratin-92
Type I Cytoskeletal 91 2     Keratin, Type I Cytoskeletal 92
CK-92 3     keratin-92
K92 3     Cytokeratin-93
EPPK2 5     Keratin-93

External Ids:    HGNC: 64471   Entrez Gene: 38572   Ensembl: ENSG000001714037   OMIM: 6076065   UniProtKB: P355273   

Export aliases for KRT9 gene to outside databases

Previous GC identifers: GC17M038843 GC17P041832 GC17M039630 GC17M040095 GC17M036975 GC17M035485


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KRT9 Gene:
This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally
differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma.
(provided by RefSeq, Jul 2008)

GeneCards Summary for KRT9 Gene: 
KRT9 (keratin 9) is a protein-coding gene. Diseases associated with KRT9 include opisthorchiasis, and palmoplantar keratoderma with tonotubular keratin. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is KRT34.

UniProtKB/Swiss-Prot: K1C9_HUMAN, P35527
Function: May serve an important special function either in the mature palmar and plantar skin tissue or in the
morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly

Gene Wiki entry for KRT9 (Keratin 9) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRT9 gene promoter:
         TBP   AP-2alpha isoform 3   AP-2alpha isoform 2   STAT3   AP-2alpha isoform 4   AP-2alpha   NF-kappaB1   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT9 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRT9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT9


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

KRT9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT9 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039722:  view genomic region     (about GC identifiers)

Start:
39,722,093 bp from pter      End:
39,728,310 bp from pter
Size:
6,218 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: K1C9_HUMAN, P35527 (See protein sequence)
Recommended Name: Keratin, type I cytoskeletal 9  
Size: 623 amino acids; 62064 Da
Subunit: Heterotetramer of two type I and two type II keratins
Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to
basic) (40-55 and 56-70 kDa, respectively)
Caution: Was originally (PubMed:2140676) thought to be a 60 kDa chain of placental scatter protein
Secondary accessions: O00109 Q0IJ47 Q14665

Explore the universe of human proteins at neXtProt for KRT9: NX_P35527

Explore proteomics data for KRT9 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35527

  • KRT9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KRT9 Protein Expression
    REFSEQ proteins: NP_000217.2  
    ENSEMBL proteins: 
     ENSP00000246662   ENSP00000467932  

    Human Recombinant Protein Products for KRT9: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for KRT9
    OriGene Protein Over-expression Lysate for KRT9
    OriGene MassSpec for KRT9 
    OriGene Custom Protein Services for KRT9
    GenScript Custom Purified and Recombinant Proteins Services for KRT9
    Novus Biologicals KRT9 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KRT9 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005882intermediate filament IEA--

    KRT9 for ontologies           About GeneDecksing



    KRT9 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for KRT9
    GenScript Custom Superior Antibodies Services for KRT9
    Novus Biologicals KRT9 Antibodies
    Abcam antibodies for KRT9
    Cloud-Clone Corp. Antibodies for KRT9 
    ThermoFisher Antibody for KRT9
    LSBio Antibodies in human, mouse, rat for KRT9 

    Assay Products for KRT9: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for KRT9
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for KRT9
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KRT9 
    Cloud-Clone Corp. CLIAs for KRT9


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

    4 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR016044 F
     IPR002957 Keratin_I

    Graphical View of Domain Structure for InterPro Entry P35527

    ProtoNet protein and cluster: P35527

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


    UniProtKB/Swiss-Prot: K1C9_HUMAN, P35527
    Similarity: Belongs to the intermediate filament family


    KRT9 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: K1C9_HUMAN, P35527
    Function: May serve an important special function either in the mature palmar and plantar skin tissue or in the
    morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly
    Induction: Induced by intrinsic regulatory mechanisms and by extrinsic signals from a subset of dermal
    palmoplantar fibroblasts

         Genatlas biochemistry entry for KRT9:
    keratin 9,type I,palm and sole skin,dimerizing either with KRT1 or KRT10

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton TAS8647270
         
    KRT9 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KRT9 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KRT9

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KRT9 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KRT9 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT9
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate KRT9:
    hsa-miR-1207-3p hsa-miR-3915 hsa-miR-1224-5p
    SwitchGear 3'UTR luciferase reporter plasmidKRT9 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KRT9
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT9

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KRT9
    Sirion Biotech Customized adenovirus for overexpression of KRT9

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for KRT9 (see all 6)
    OriGene ORF clones in mouse, rat for KRT9
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KRT9 (NM_000226)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT9
    Sirion Biotech Customized lentivirus for stable overexpression of KRT9 
                         Customized lentivirus expression plasmids for stable overexpression of KRT9 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for KRT9
    Search LifeMap BioReagents cell lines for KRT9
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT9


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KRT9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/90 Interacting proteins for KRT9 (P355272, 3 ENSP000002466624) via UniProtKB, MINT, STRING, and/or I2D (see all 90)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TANKQ928442, 3, ENSP000002590754MINT-48255 I2D: score=2 STRING: ENSP00000259075
    ENSG00000235068Q018603, ENSP000004050414I2D: score=1 STRING: ENSP00000405041
    ENSG00000206454Q018603I2D: score=1 
    ENSG00000229094Q018603I2D: score=1 
    ENSG00000230336Q018603I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007283spermatogenesis IEA--
    GO:0008544epidermis development TAS8647270
    GO:0043588skin development IDA7507869
    GO:0045109intermediate filament organization IMP10218578

    KRT9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KRT9 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KRT9 (K1C9)

    5 Novoseek inferred chemical compound relationships for KRT9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arginine 43.6 7 8647270 (1), 15605275 (1), 14517588 (1), 7532198 (1) (see all 6)
    leucine 27.9 3 15099359 (1), 9204965 (1), 17362238 (1)
    histidine 7.74 3 10233272 (1), 15115518 (1)
    polyacrylamide 5.82 1 16216052 (1)
    glutamine 4.32 2 8647270 (1)

    Search CenterWatch for drugs/clinical trials and news about KRT9 / K1C9

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KRT9 gene: 
    NM_000226.3  

    Unigene Cluster for KRT9:

    Keratin 9
    Hs.654569
    Unigene Representative Sequence: S69510
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000246662(uc002hxe.4) ENST00000588431
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT9
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate KRT9:
    hsa-miR-1207-3p hsa-miR-3915 hsa-miR-1224-5p
    SwitchGear 3'UTR luciferase reporter plasmidKRT9 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KRT9
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT9
    Clone
    Products:
         
    OriGene clones in human, mouse for KRT9 (see all 6)
    OriGene ORF clones in mouse, rat for KRT9
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KRT9 (NM_000226)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT9
    Sirion Biotech Customized lentivirus for stable overexpression of KRT9 
                         Customized lentivirus expression plasmids for stable overexpression of KRT9 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for KRT9
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KRT9
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT9
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT9

    Additional mRNA sequence: 

    AB001594.1 BC121170.2 S69510.1 Z29074.1 

    1 DOTS entry:

    DT.205749 

    3 AceView cDNA sequences:

    S69510 Z29074 NM_000226 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KRT9 expression in normal human tissues (normalized intensities)      KRT9 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGAGGAAG
    KRT9 Expression
    About this image


    KRT9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Epidermis (Integumentary System)
             Granular Keratinocytes Stratified Epidermis

     -- (Reproductive System)
             penis   

    See KRT9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KRT9

    SOURCE GeneReport for Unigene cluster: Hs.654569

    UniProtKB/Swiss-Prot: K1C9_HUMAN, P35527
    Tissue specificity: Expressed in the terminally differentiated epidermis of palms and soles

        SABiosciences Custom PCR Arrays for KRT9
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for KRT9
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KRT9
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT9
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT9
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT9

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KRT9 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt91 , 5 keratin 91, 5 77.22(n)1
    73.06(a)1
      11 (63.43 cM)5
    1076561  NM_201255.21  NP_957707.21 
     1001867815 
    chicken
    (Gallus gallus)
    Aves KRT101 keratin 10 60.01(n)
    57.44(a)
      771977  XM_001235181.2  XP_001235182.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 4)
    --
    44(a)
    39(a)
    (see all 4)
    1 ↔ many
    1 ↔ many
    (see all 4)
    6(70777029-70784816)
    6(70702069-70711380)


    ENSEMBL Gene Tree for KRT9 (if available)
    TreeFam Gene Tree for KRT9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRT9 gene
    KRT342  KRT172  KRT162  KRT312  KRT252  KRT392  KRT402  KRT372  
    KRT272  KRT322  KRT382  KRT362  KRT192  KRT282  KRT142  KRT132  
    KRT262  KRT102  KRT122  KRT352  KRT152  KRT242  KRT33B2  KRT33A2  
    18/43 SIMAP similar genes for KRT9 using alignment to 2 protein entries:     K1C9_HUMAN (see all proteins) (see all similar genes):
    K14    JUP    KRT14    KRT17    KRT15    KRT33B
    KRT13    KRT33A    KRT19    KRT32    GUCA1B    KRT16
    KRT10    KRT31    KRT35    KRT12    keratin    KRT20

    KRT9 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/320 SNPs in KRT9 are shown (see all 320)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0368074
    Keratoderma, palmoplantar, epidermolytic (EPPK)4--see VAR_0368072 N I mis40--------
    VAR_0105014
    Keratoderma, palmoplantar, epidermolytic (EPPK)4--see VAR_0105012 L V mis40--------
    VAR_0368084
    Keratoderma, palmoplantar, epidermolytic (EPPK)4--see VAR_0368082 R P mis40--------
    VAR_0368054
    Keratoderma, palmoplantar, epidermolytic (EPPK)4--see VAR_0368052 M R mis40--------
    VAR_0368064
    Keratoderma, palmoplantar, epidermolytic (EPPK)4--see VAR_0368062 N H mis40--------
    rs598781531,2,4
    CKeratoderma, palmoplantar, epidermolytic (EPPK)4 pathogenic140515264(-) GGTGCA/CGGCTC 2 Q P mis10--------
    rs570197201,2,4
    CKeratoderma, palmoplantar, epidermolytic (EPPK)4 pathogenic140515268(-) ATAAGA/GTGCAG 2 M V mis10--------
    rs611570951,2,4
    CKeratoderma, palmoplantar, epidermolytic (EPPK)4 pathogenic140515276(-) TTACTC/TGGATA 2 S L mis10--------
    rs577582621,2,4
    CKeratoderma, palmoplantar, epidermolytic (EPPK)4 pathogenic140515291(-) TTCTCA/C/GGCTGG 3 Q P R mis10--------
    rs596169211,2,4
    CKeratoderma, palmoplantar, epidermolytic (EPPK)4 pathogenic140515292(-) ATTCTC/TGGCTG 2 R W mis10--------

    HapMap Linkage Disequilibrium report for KRT9 (39722093 - 39728310 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for KRT9:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2053CNV Insertion18451855
    nsv510711CNV Loss20534489
    esv34903CNV Gain17911159
    nsv827992CNV Gain20364138
    nsv9555CNV Gain18304495
    dgv962e1CNV Complex17122850
    dgv961e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): KRT9
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing KRT9
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT9

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607606   
    OMIM disorders: 144200  
    UniProtKB/Swiss-Prot: K1C9_HUMAN, P35527
  • Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]: A dermatological disorder characterized by
    diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous
    margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal
    joints. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/21 diseases for KRT9 (see all 21):    About MalaCards
    opisthorchiasis    palmoplantar keratoderma with tonotubular keratin    acral lentiginous melanoma    keratoderma
    amebiasis    epidermolytic hyperkeratosis    hereditary mucosal leukokeratosis    palmoplantar keratosis
    pachyonychia congenita    monilethrix    congenital ichthyosiform erythroderma    keratosis
    epidermolysis bullosa simplex    bile duct carcinoma    skin disease    epidermolysis bullosa
    ichthyosis    nephrotic syndrome    melanoma    ovarian cancer

    8 diseases from the University of Copenhagen DISEASES database for KRT9:
    Epidermolytic hyperkeratosis     Palmoplantar keratosis     Amebiasis     Epidermolysis bullosa simplex
    Pachyonychia congenita     Monilethrix     Hereditary mucosal leukokeratosis     Acral lentiginous melanoma

    KRT9 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for KRT9 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    palmoplantar keratoderma, epidermolytic 98.6 22 9204965 (2), 10632938 (2), 15099359 (1), 17074468 (1) (see all 19)
    keratoderma palmoplantar 89.5 9 12192490 (1), 8647270 (1), 10536990 (1), 17369150 (1)
    knuckle pads 89.3 2 17074468 (1), 12838553 (1)
    neppk 85.8 3 7544664 (1), 9833037 (1)
    hyperkeratosis 82.3 4 10201533 (1), 11346340 (1), 7512862 (1)
    keratoderma 80.2 3 18683133 (1), 7528239 (1), 17369150 (1)
    skin diseases 57.2 1 19106041 (1)
    acanthosis 52.9 2 10201533 (1), 11346340 (1)
    melanoma 0 1 10201533 (1)


    Export disorders for KRT9 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)
    About This Section

    PubMed articles for KRT9 gene, integrated from 9 sources (see all 110):
    (articles sorted by number of sources associating them with KRT9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). (PubMed id 7512862)1, 2, 3, 9 Reis A....Kuester W. (1994)
    2. Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. (PubMed id 7532199)1, 2, 9 Rothnagel J.A.... Roop D.R. (1995)
    3. A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. (PubMed id 9204965)1, 2, 9 Endo H.... Shinkai H. (1997)
    4. Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation. (PubMed id 8647270)1, 2, 9 Kobayashi S.... Imamura S. (1996)
    5. Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. (PubMed id 7523529)1, 2, 9 Bonifas J.M.... Epstein E.H. Jr. (1994)
    6. Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. (PubMed id 9856842)1, 2, 9 Covello S.P.... McLean W.H.I. (1998)
    7. Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. (PubMed id 7511021)1, 2, 9 Torchard D....Feunteun J. (1994)
    8. Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma. (PubMed id 14675368)1, 2, 9 Lee J.-H.... Yang J.-M. (2003)
    9. Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. (PubMed id 7516304)1, 2, 9 Hennies H.-C.... Reis A. (1994)
    10. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3857 HGNC: 6447 AceView: KRT9 Ensembl:ENSG00000171403 euGenes: HUgn3857
    ECgene: KRT9 H-InvDB: KRT9

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KRT9 Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT9

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KRT9 gene:
    Search GeneIP for patents involving KRT9

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for KRT9  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for KRT9  
     OriGene MassSpec something-or-other for KRT9   OriGene clones in human, mouse for KRT9  
     OriGene qSTAR qPCR primer pairs in human, mouse for KRT9   OriGene Purified Protein for KRT9  
     OriGene ORF clones in mouse, rat for KRT9   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for KRT9   OriGene Custom Protein Services for KRT9  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KRT9
     QIAGEN SeqTarget long-range PCR primers for resequencing KRT9
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT9
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT9
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT9
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT9
     GenScript Custom Purified and Recombinant Proteins Services for KRT9 GenScript cDNA clones with any tag delivered in your preferred vector for KRT9
     GenScript Custom Assay Services for KRT9 GenScript Custom Superior Antibodies Services for KRT9
     GenScript Custom overexpressing Cell Line Services for KRT9 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in KRT9 promoter
     Search Chromatin IP Primers for KRT9
     RT2 qPCR Primer Assay in human, mouse, rat KRT9
     Search GNC Networks for KRT9
     SABiosciences Custom PCR Arrays for KRT9
     Search Tocris compounds for KRT9 (K1C9)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     KRT9 antibodies
     KRT9 lysates
     Antibodies for KRT9
     See all of Abcam's Antibodies, Kits and Proteins for KRT9
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for KRT9
     Antibodies for KRT9
     ELISAs for KRT9
     CLIAs for KRT9
     Search LifeMap BioReagents cell lines for KRT9
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT9
     SwitchGear 3'UTR luciferase reporter plasmids for KRT9
     SwitchGear Promoter luciferase reporter plasmids for KRT9
     ThermoFisher Antibody for KRT9
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT9
     inGenious Targeting Laboratory - Custom generated mouse model solutions for KRT9
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KRT9
    Customized:
     lentivirus for stable overexpression of KRT9
     lentivirus expression plasmids for stable overexpression of KRT9
     adenovirus for overexpression of KRT9
     LSBio Antibodies in human, mouse, rat for KRT9
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      KRT9 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4