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KRT10 Gene

protein-coding   GIFtS: 60
GCID: GC17M038974

Keratin 10

(Previous name: keratosis palmaris et plantaris)
(Previous symbol: KPP)
  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 101 2     Epidermolytic Hyperkeratosis1
KPP1 2 3     Keratosis Palmaris Et Plantaris1
Cytokeratin 101 2     CK102
CK-102 3     Keratin, Type I Cytoskeletal 102
K102 3     keratin-102
BCIE2 5     Cytokeratin-103
BIE2 5     Keratin-103
EHK2 5     

External Ids:    HGNC: 64131   Entrez Gene: 38582   Ensembl: ENSG000001863957   OMIM: 1480805   UniProtKB: P136453   

Export aliases for KRT10 gene to outside databases

Previous GC identifers: GC17M038474 GC17M041150 GC17M038763 GC17M039347 GC17M036227 GC17M034768


(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 KRT10 Gene:
This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of
intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate
filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of
epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located
within a cluster of keratin family members on chromosome 17q21. (provided by RefSeq, Jul 2008)

GeneCards Summary for KRT10 Gene:
KRT10 (keratin 10) is a protein-coding gene. Diseases associated with KRT10 include bladder squamous cell carcinoma, and pericardial mesothelioma. GO annotations related to this gene include structural constituent of epidermis. An important paralog of this gene is KRT34.

Gene Wiki entry for KRT10 (Keratin 10) 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  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRT10 gene promoter:
         Bach1   C/EBPbeta   AML1a   NRSF form 1   MyoD   LUN-1   STAT5A   NRSF form 2   Chx10   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KRT10 promoter sequence
   Search Chromatin IP Primers for KRT10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT10


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

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

KRT10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT10 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M038974:  view genomic region     (about GC identifiers)

Start:
38,974,369 bp from pter      End:
38,978,863 bp from pter
Size:
4,495 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: K1C10_HUMAN, P13645 (See protein sequence)
Recommended Name: Keratin, type I cytoskeletal 10  
Size: 584 amino acids; 58827 Da
Subunit: Heterotetramer of two type I and two type II keratins. keratin-10 is generally associated with keratin-1
Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II
(neutral to basic; 56-70 kDa)
Sequence caution: Sequence=AAA59468.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
2 PDB 3D structures from and Proteopedia for KRT10:
3ASW (3D)        4F1Z (3D)    
Secondary accessions: Q14664 Q8N175

Explore the universe of human proteins at neXtProt for KRT10: NX_P13645

Explore proteomics data for KRT10 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KRT10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000412.3  
    ENSEMBL proteins: 
     ENSP00000269576  

    KRT10 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
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    OriGene Custom Protein Services for KRT10
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    Novus Biologicals KRT10 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KRT10

    KRT10 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of KRT10
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for KRT10  (K10)
    OriGene Antibodies for KRT10
    OriGene Custom Antibody Services for KRT10
    Novus Biologicals KRT10 Antibodies
    Abcam antibodies for KRT10
    Cloud-Clone Corp. Antibodies for KRT10
    ThermoFisher Antibody for KRT10
    LSBio Antibodies in human, mouse, rat for KRT10

    KRT10 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for KRT10
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for KRT10
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KRT10
    Cloud-Clone Corp. CLIAs for KRT10


    (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 P13645

    ProtoNet protein and cluster: P13645

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


    UniProtKB/Swiss-Prot: K1C10_HUMAN, P13645
    Similarity: Belongs to the intermediate filament family


    KRT10 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 KRT10:
    keratin 10,type I,suprabasal (spinous) layer,dimerizing with KRT1,also with KRT9

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity ----
    GO:0030280structural constituent of epidermis NAS2459124
         
    KRT10 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KRT10:
     Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Krt10):
     craniofacial  growth/size/body  hearing/vestibular/ear  immune system  integument 
     limbs/digits/tail  mortality/aging  tumorigenesis 

    KRT10 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KRT10: Krt10tm1Tmm Krt10tm2Tmm

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KRT10
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KRT10

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KRT10
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KRT10

    miRNA
    Products:
        
    miRTarBase miRNAs that target KRT10:
    hsa-mir-122-5p (MIRT023292)

    Block miRNA regulation of human, mouse, rat KRT10 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate KRT10:
    hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidKRT10 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KRT10
    Predesigned siRNA for gene silencing in human, mouse, rat KRT10

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KRT10

    Clone
    Products:
         
    OriGene clones in human, mouse for KRT10 (see all 5)
    OriGene ORF clones in mouse, rat for KRT10
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KRT10 (NM_000421)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT10

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for KRT10
    Browse ESI BIO Cell Lines and PureStem Progenitors for KRT10 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT10


    (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
    cytosol3
    nucleus3
    extracellular2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005737cytoplasm IDA--
    GO:0005882intermediate filament NAS2459124
    GO:0045095keratin filament IEA--
    GO:0070062extracellular vesicular exosome IDA11487543

    KRT10 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 KRT10 About    
    See pathways by source

    SuperPathContained pathways About
    1Staphylococcus aureus infection
    Staphylococcus aureus infection
    2Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for KRT10
        Cytoskeletal Signaling


    1 Kegg Pathway  (Kegg details for KRT10):
        Staphylococcus aureus infection


    KRT10 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including KRT10: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KRT10

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

    Selected Interacting proteins for KRT10 (P136452, 3 ENSP000002695764) via UniProtKB, MINT, STRING, and/or I2D (see all 95)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3, ENSP000003329734MINT-51255 I2D: score=4 STRING: ENSP00000332973
    TJP1Q071572, 3, ENSP000002815374MINT-2984752 I2D: score=3 STRING: ENSP00000281537
    ENSG00000235068Q018603, ENSP000004050414I2D: score=1 STRING: ENSP00000405041
    ENSG00000206454Q018603I2D: score=1 
    ENSG00000229094Q018603I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030216keratinocyte differentiation IEP--
    GO:0030855epithelial cell differentiation ----
    GO:0071277cellular response to calcium ion IEA--

    KRT10 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 KRT10 (K1C10)

    Selected Novoseek inferred chemical compound relationships for KRT10 gene (see all 38)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcipotriol 72.4 5 1373949 (2), 17199579 (2), 12218287 (1)
    pd153035 57.7 2 10601294 (1), 15304097 (1)
    retinoic acid 52.2 15 10692107 (2), 10542138 (2), 9716179 (1), 19120344 (1) (see all 9)
    dithranol 51.8 1 12218287 (1)
    tazarotene 49.3 2 10692107 (1), 11558869 (1)
    betamethasone 17-valerate 41.5 2 1373949 (2)
    retinoid 40.1 3 11558869 (2), 10692107 (1)
    bexarotene 38.8 1 15280845 (1)
    hema 31.2 1 8971217 (1)
    1,25 dihydroxy vitamin d3 30.3 1 9990355 (1)



    KRT10 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 KRT10 gene: 
    NM_000421.3  

    Unigene Cluster for KRT10:

    Keratin 10
    Hs.99936  [show with all ESTs]
    Unigene Representative Sequence: NM_000421
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000269576(uc002hvi.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KRT10 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate KRT10:
    hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidKRT10 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for KRT10
    Predesigned siRNA for gene silencing in human, mouse, rat KRT10
    Clone
    Products:
         
    OriGene clones in human, mouse for KRT10 (see all 5)
    OriGene ORF clones in mouse, rat for KRT10
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KRT10 (NM_000421)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT10
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for KRT10
    OriGene qSTAR qPCR primer pairs in human, mouse for KRT10
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KRT10
      QuantiTect SYBR Green Assays in human, mouse, rat KRT10
      QuantiFast Probe-based Assays in human, mouse, rat KRT10

    Additional mRNA sequence: 

    BC034697.1 M19156.1 M77663.1 

    14 DOTS entries:

    DT.316357  DT.100766186  DT.100766184  DT.92436398  DT.100766188  DT.120921001  DT.120920992  DT.92436399 
    DT.95323957  DT.100766185  DT.120920985  DT.120920986  DT.91724819  DT.95162150 

    Selected AceView cDNA sequences (see all 283):

    AI276886 BU727196 CB112043 BM707135 BU727205 CB112066 BM673258 BM689304 
    BQ267479 CB112047 CB112062 CB112034 BG680753 AI421520 R93966 BM707400 
    BM678094 CD677728 CB112040 BU728001 BG742191 BM673449 CB112025 BM672097 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for KRT10    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b
    SP1:        -               
    SP2:                        


    ECgene alternative splicing isoforms for KRT10

    (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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    KRT10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAAACAAAG
    KRT10 Expression
    About this image


    KRT10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Epidermis (Integumentary System)    fully expand to see all 7 entries
             Intermediate Keratinocytes Embryonic Epidermis
             Purified keratinocyte-like cells
     
     Epithelial Cells
             Intermediate Keratinocytes Embryonic Epidermis
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Pharynx
     
     Hair (Integumentary System)
             Primary Hair Placode Cells Hair Follicle
     
     Eye (Sensory Organs)
             Corneal Epithelium
    KRT10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.99936

    UniProtKB/Swiss-Prot: K1C10_HUMAN, P13645
    Tissue specificity: Seen in all suprabasal cell layers including stratum corneum

        Pathway & Disease-focused RT2 Profiler PCR Arrays including KRT10: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for KRT10
    OriGene qSTAR qPCR primer pairs in human, mouse for KRT10
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KRT10
    QuantiTect SYBR Green Assays in human, mouse, rat KRT10
    QuantiFast Probe-based Assays in human, mouse, rat KRT10
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT10

    (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 human and mouse.

    Orthologs for KRT10 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt105 keratin 10   --   11 (62.92 cM) 99385254 


    ENSEMBL Gene Tree for KRT10 (if available)
    TreeFam Gene Tree for KRT10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRT10 gene
    KRT342  KRT172  KRT162  KRT312  KRT252  KRT392  KRT402  KRT202  
    KRT372  KRT272  KRT322  KRT382  KRT362  KRT192  KRT282  KRT142  
    KRT132  KRT262  KRT122  KRT352  KRT152  KRT242  KRT92  KRT33B2  
    KRT33A2  
    Selected SIMAP similar genes for KRT10 using alignment to 1 protein entry:     K1C10_HUMAN(see all similar genes):
    JUP    GUCA1B    KRT15    K14    KRT27    type I hair keratin
    KRT12    KRT13    KRT14    KRT19    KRT25    keratin
    KRT16    KRT24    KRT28    KRT31    KRT32    KRT33A

    KRT10 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    K1C10_HUMAN, P13645: A number of alleles are known that mainly differ in the Gly-rich region (positions 490-560)


    Selected SNPs for KRT10 (see all 44)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs589014071,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 pathogenic136332967(-) AACCAC/G/TGCAGA 3 T R M mis10--------
    rs577842251,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 pathogenic136332978(-) ATCTGA/CATGAC 2 N H mis10--------
    rs588527681,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 pathogenic136332984(-) ATGACA/C/G/
            
    GCCTG
    4 S R G C mis10--------
    rs580756621,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 pathogenic136332985(-) TGACCA/C/G/
            
    CCTGG
    4 H P R L mis10--------
    rs584143541,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 pathogenic136332996(-) CTTCCG/TACTTG 2 D Y mis10--------
    rs601182641,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 pathogenic136333000(-) CTACTC/TGGACA 2 S L mis10--------
    rs614341811,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 pathogenic136335529(-) ATATTA/GAGATC 2 K E mis10--------
    rs580269941,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 pathogenic136335539(-) CCGACA/TGGAGA 2 Q L mis10--------
    VAR_0105114
    Ichthyosis annular epidermolytic (AEI)4--see VAR_0105112 I T mis40--------
    VAR_0038284
    Epidermolytic hyperkeratosis (EHK)4--see VAR_0038282 R C mis40--------

    HapMap Linkage Disequilibrium report for KRT10 (38974369 - 38978863 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for KRT10:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908226CNV Loss21882294

    Human Gene Mutation Database (HGMD): KRT10
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT10
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT10

    (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: 148080   
    OMIM disorders: 113800  607602  609165  
    UniProtKB/Swiss-Prot: K1C10_HUMAN, P13645
  • Epidermolytic hyperkeratosis (EHK) [MIM:113800]: An autosomal dominant skin disorder characterized by
    widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there
    is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from
    birth, erythroderma and blister formation diminish and hyperkeratoses develop. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Ichthyosis annular epidermolytic (AEI) [MIM:607602]: A skin disorder resembling bullous congenital
    ichthyosiform erythroderma. Affected individuals present with bullous ichthyosis in early childhood and
    hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. The feature that
    distinguishes AEI from BCIE is dramatic episodes of flares of annular polycyclic plaques with scale, which
    coalesce to involve most of the body surface and can persist for several weeks or even months. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Erythroderma, ichthyosiform, congenital reticular (CRIE) [MIM:609165]: A rare skin condition
    characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a
    reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin
    resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like
    parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper
    epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include
    perinuclear shells formed from a network of fine filaments in the upper epidermis. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for KRT10 (see all 74):    
    About MalaCards
    bladder squamous cell carcinoma    pericardial mesothelioma    verrucous carcinoma    epidermal nevus
    keratoacanthoma    krt10-related epidermolytic hyperkeratosis    ichthyosis with confetti    nodular hidradenoma
    epidermolytic hyperkeratosis    primary cutaneous amyloidosis    inflammatory linear verrucous epidermal nevus    hidradenoma
    cervical squamous cell carcinoma    epidermolytic acanthoma    acanthoma    steatocystoma multiplex
    ichthyosis, cyclic, with epidermolytic hyperkeratosis    middle ear cholesteatoma    ichthyosis bullosa of siemens    diabetic foot ulcers

    5 diseases from the University of Copenhagen DISEASES database for KRT10:
    Epidermolytic hyperkeratosis     Keratosis     Psoriasis     Epidermolysis bullosa simplex
    Congenital ichthyosiform erythroderma

    KRT10 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for KRT10 gene (see all 42)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bullous congenital ichthyosiform erythroderma 93.5 22 18219278 (2), 19689541 (2), 11204523 (2), 9028791 (1) (see all 15)
    epidermolytic ichthyosis, annular 85.6 3 10511478 (1), 9856845 (1), 9036939 (1)
    hyperkeratosis 76.1 10 16911278 (1), 14705805 (1), 1696852 (1), 7969162 (1) (see all 7)
    epidermolysis bullosa simplex 73 1 8595410 (1)
    ichthyosis 72.1 4 16029326 (1), 8595410 (1), 11558869 (1)
    psoriasis 70.7 11 15319153 (2), 16191851 (1), 10195395 (1), 10971053 (1) (see all 6)
    keratoderma palmoplantar 70.5 6 19443303 (2), 10597140 (1), 11558869 (1), 12234709 (1)
    parakeratosis 68 1 7969162 (1)
    skin diseases 63.3 8 14681042 (1), 12837696 (1), 7512983 (1), 19689541 (1) (see all 7)
    carcinoma squamous cell 57.2 21 15588557 (4), 1379783 (2), 8857642 (2), 7522949 (1) (see all 14)


    Export disorders for KRT10 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 KRT10 gene, integrated from 10 sources (see all 410):
    (articles sorted by number of sources associating them with KRT10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel substitution in keratin 10 in epidermolytic hyperkeratosis. (PubMed id 10201536)1, 2, 9 Arin M.J.... Roop D.R. (J. Invest. Dermatol. 1999)
    2. Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. (PubMed id 7508181)1, 2, 9 Chipev C.C.... Bale S.J. (Am. J. Hum. Genet. 1994)
    3. Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. (PubMed id 7512983)1, 2, 9 Syder A.J.... Fuchs E. (J. Clin. Invest. 1994)
    4. Genetic and clinical mosaicism in a type of epidermal nevus. (PubMed id 7526210)1, 2, 9 Paller A.S....Fuchs E. (N. Engl. J. Med. 1994)
    5. A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. (PubMed id 9856845)1, 2, 9 Suga Y.... Roop D.R. (J. Invest. Dermatol. 1998)
    6. A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. (PubMed id 9036939)1, 2, 9 Joh G.-Y.... Roop D.R. (J. Invest. Dermatol. 1997)
    7. Exons I and VII of the gene (Ker10) encoding human keratin 10 undergo structural rearrangements within repeats. (PubMed id 1378806)1, 2, 9 Tkachenko A.V....Kisselev L.L. (Gene 1992)
    8. Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. (PubMed id 7507150)1, 2, 9 Rothnagel J.A.... Roop D.R. (J. Invest. Dermatol. 1994)
    9. The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. (PubMed id 1381287)1, 2, 9 Cheng J.... Fuchs E. (Cell 1992)
    10. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. (PubMed id 20798280)1, 2 Choate K.A.... Lifton R.P. (Science 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3858 HGNC: 6413 AceView: KRT12andKRT10 Ensembl:ENSG00000186395 euGenes: HUgn3858
    ECgene: KRT10 Kegg: 3858 H-InvDB: KRT10

    (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 KRT10 Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KRT10[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Keratin_10

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KRT10 gene:
    Search GeneIP for patents involving KRT10

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



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