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KRT1 Gene

protein-coding   GIFtS: 63
GCID: GC12M053069

Keratin 1

(Previous name: epidermolytic hyperkeratosis 1)
(Previous symbol: EHK1)
  See KRT1-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 11 2     NEPPK2 5
EHK11 2     CK12
Epidermolytic Hyperkeratosis 11 2     KRT1A2
Hair Alpha Protein2 3     Cytokeratin 12
Type-II Keratin Kb12 3     cytokeratin-12
67 KDa Cytokeratin2 3     Keratin, Type II Cytoskeletal 12
CK-12 3     Cytokeratin-13
K12 3     KRTA3
EHK2 5     Keratin-13
EPPK2 5     

External Ids:    HGNC: 64121   Entrez Gene: 38482   Ensembl: ENSG000001677687   OMIM: 1393505   UniProtKB: P042643   

Export aliases for KRT1 gene to outside databases

Previous GC identifers: GC12M053203 GC12M053098 GC12M052785 GC12M051354 GC12M050112


(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 KRT1 Gene:
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic
or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation
of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous
and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated
with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of
chromosome 12q12-q13. (provided by RefSeq, Jul 2008)

GeneCards Summary for KRT1 Gene:
KRT1 (keratin 1) is a protein-coding gene. Diseases associated with KRT1 include syringoma, and keratosis palmoplantaris striata 3. GO annotations related to this gene include carbohydrate binding and receptor activity. An important paralog of this gene is KRT74.

UniProtKB/Swiss-Prot: K2C1_HUMAN, P04264
Function: May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the
receptor of activated protein kinase C (RACK1/GNB2L1). In complex with C1QBP is a high affinity receptor for
kininogen-1/HMWK

Gene Wiki entry for KRT1 (Keratin 1) 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 at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRT1 gene promoter:
         E2F-3a   CREB   E2F-1   E2F   p53   deltaCREB   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT1 promoter sequence
   Search Chromatin IP Primers for KRT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT1


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

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

KRT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M053069:  view genomic region     (about GC identifiers)

Start:
53,068,520 bp from pter      End:
53,074,191 bp from pter
Size:
5,672 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: K2C1_HUMAN, P04264 (See protein sequence)
Recommended Name: Keratin, type II cytoskeletal 1  
Size: 644 amino acids; 66039 Da
Subunit: Heterotetramer of two type I and two type II keratins. Keratin-1 is generally associated with keratin-10.
Interacts with ITGB1 in the presence of GNB2L1 and SRC, and with GNB2L1. Interacts with C1QBP; the association
represents a cell surface kininogen receptor
Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II
(neutral to basic; 56-70 kDa)
Secondary accessions: B2RA01 Q14720 Q6GSJ0 Q9H298

Explore the universe of human proteins at neXtProt for KRT1: NX_P04264

Explore proteomics data for KRT1 at MOPED

Post-translational modifications: 

  • Undergoes deimination of some arginine residues (citrullination)1
  • Ubiquitination2 at Lys197, Lys269
  • Modification sites at PhosphoSitePlus

  • See KRT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006112.3  
    ENSEMBL proteins: 
     ENSP00000252244  

    KRT1 Human Recombinant Protein Products:

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    antibodies-online proteins for KRT1 (15 products) 

     
    antibodies-online peptides for KRT1

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    antibodies-online antibodies for KRT1 (100 products) 

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    antibodies-online kits for KRT1 (11 products) 


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

    3 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR003054 Keratin_II

    Graphical View of Domain Structure for InterPro Entry P04264

    ProtoNet protein and cluster: P04264

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


    UniProtKB/Swiss-Prot: K2C1_HUMAN, P04264
    Similarity: Belongs to the intermediate filament family


    Find genes that share domains with KRT1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: K2C1_HUMAN, P04264
    Function: May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the
    receptor of activated protein kinase C (RACK1/GNB2L1). In complex with C1QBP is a high affinity receptor for
    kininogen-1/HMWK

         Genatlas biochemistry entry for KRT1:
    keratin 1,type II,epidermal,suprabasal (spinous) layer 50kDa,dimerizing with KRT10,also with KRT9. Also acting as
    a binding protein and presentation for kininogens on endothelial cells

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity NAS11290596
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding IPI11290596
    GO:0030246carbohydrate binding IPI11549596
         
    Find genes that share ontologies with KRT1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for KRT1:
     Increased cell number in S and  Synthetic lethal with Ras 

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Krt1):
     cardiovascular system  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  nervous system  pigmentation 

    Find genes that share phenotypes with KRT1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Krt1tm1Tmm for KRT1

       genOway: Develop your customized and physiologically relevant rodent model for KRT1

    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate KRT1:
    hsa-miR-3671 hsa-miR-3173-3p hsa-miR-203 hsa-miR-607 hsa-miR-4252 hsa-miR-105
    SwitchGear 3'UTR luciferase reporter plasmidKRT1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KRT1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: KRT1 (NM_006121)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT1


    (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
    K2C1_HUMAN, P04264: Cell membrane. Note=Located on plasma membrane of neuroblastoma NMB7 cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton4
    cytosol3
    nucleus2
    extracellular1
    golgi apparatus1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005856cytoskeleton TAS1381288
    GO:0005882intermediate filament ----
    GO:0005886plasma membrane IEA--
    GO:0016020membrane IDA11290596

    Find genes that share ontologies with KRT1           About GenesLikeMe


    (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 KRT1 About    
    See pathways by source

    SuperPathContained pathways About
    1G-Beta Gamma Signaling
    CRHR Pathway0.44
    2Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    3Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments
    4Corticotropin-releasing hormone
    Corticotropin-releasing hormone

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KRT1
        CRHR Pathway

    1 GeneGo (Thomson Reuters) Pathway for KRT1
        Cytoskeleton remodeling Keratin filaments

    2 BioSystems Pathways for KRT1
        Corticotropin-releasing hormone
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription


        Pathway & Disease-focused RT2 Profiler PCR Arrays including KRT1: 
              Terminal Differentiation Markers in human mouse rat
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KRT1

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

    Selected Interacting proteins for KRT1 (P042642, 3 ENSP000002522444) via UniProtKB, MINT, STRING, and/or I2D (see all 112)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TANKQ928442, 3, ENSP000002590754MINT-48270 I2D: score=2 STRING: ENSP00000259075
    TJP1Q071572, 3, ENSP000002815374MINT-2984771 I2D: score=2 STRING: ENSP00000281537
    ENSG00000235068Q018603, ENSP000004050414I2D: score=1 STRING: ENSP00000405041
    ENSG00000206454Q018603I2D: score=1 
    ENSG00000229094Q018603I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001867complement activation, lectin pathway IPI11549596
    GO:0001895retina homeostasis IEP--
    GO:0006979response to oxidative stress NAS11549596
    GO:0042730fibrinolysis NAS11290596
    GO:0045765regulation of angiogenesis NAS11290596

    Find genes that share ontologies with KRT1           About GenesLikeMe



    (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 KRT1 (K2C1)

    Selected Novoseek inferred chemical compound relationships for KRT1 gene (see all 33)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kininogen 80.4 17 9520414 (2), 10596854 (1), 11094332 (1), 11204562 (1) (see all 13)
    ceramides 45.1 3 9209676 (2), 8589886 (1)
    retinoic acid 41.8 12 10692107 (2), 7687781 (1), 7535512 (1), 10983416 (1) (see all 8)
    tazarotene 40.5 2 10692107 (1), 11558869 (1)
    12-o-tetradecanoylphorbol 13-acetate 35.5 2 10365914 (1)
    retinoid 25 3 11558869 (2), 10692107 (1)
    isotretinoin 23.8 2 10983416 (1)
    bromodeoxyuridine 19.7 1 12190864 (1)
    arginine 12 2 8751983 (1), 7532198 (1)
    asparagine 9.66 1 10232403 (1)



    Find genes that share compounds with KRT1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KRT1 gene: 
    NM_006121.3  

    Unigene Cluster for KRT1:

    Keratin 1
    Hs.80828  [show with all ESTs]
    Unigene Representative Sequence: BC063697
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252244(uc001sau.1 uc001sav.1) ENST00000548765
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate KRT1:
    hsa-miR-3671 hsa-miR-3173-3p hsa-miR-203 hsa-miR-607 hsa-miR-4252 hsa-miR-105
    SwitchGear 3'UTR luciferase reporter plasmidKRT1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat KRT1
      QuantiFast Probe-based Assays in human, mouse, rat KRT1

    Additional mRNA sequence: 

    AK313986.1 BC063697.1 M10938.1 

    9 DOTS entries:

    DT.455895  DT.95199129  DT.121118511  DT.121118542  DT.100870720  DT.91841352  DT.121117943  DT.121119193 
    DT.95199149 

    3 AceView cDNA sequences:

    BC063697 NM_006121 M10938 

    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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    KRT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACATTTCAAA
    KRT1 Expression
    About this image


    KRT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Epidermis (Integumentary System)    fully expand to see all 6 entries
             Intermediate Keratinocytes Embryonic Epidermis
             Full-thickness skin substitutes
             human epithelial stem cells
     
     Epithelial Cells
             Intermediate Keratinocytes Embryonic Epidermis
     
     Hair (Integumentary System)
             Outer Root Sheath Cells Outer Root Sheath
     
     Blood (Hematopoietic System)
             Erythroblasts Hematopoietic Bone Marrow
     
     Heart (Cardiovascular System)
    KRT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.80828

    UniProtKB/Swiss-Prot: K2C1_HUMAN, P04264
    Tissue specificity: The source of this protein is neonatal foreskin. The 67-kDa type II keratins are expressed in
    terminally differentiating epidermis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including KRT1: 
              Terminal Differentiation Markers in human mouse rat
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KRT1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT1

    (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 KRT1 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt11 , 5 keratin 11, 5 81.43(n)1
    83.42(a)1
      15 (57.06 cM)5
    166781  NM_008473.21  NP_032499.21 
     1018454285 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    59(a)
    many ↔ many
    2(95440022-95458665)


    ENSEMBL Gene Tree for KRT1 (if available)
    TreeFam Gene Tree for KRT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRT1 gene
    KRT742  KRT772  KRT6B2  KRT832  KRT762  KRT32  KRT842  KRT862  
    KRT82  KRT812  KRT712  KRT72  KRT792  KRT722  KRT732  KRT6C2  
    KRT52  KRT6A2  KRT852  KRT22  KRT752  KRT822  KRT42  
    Selected SIMAP similar genes for KRT1 using alignment to 7 protein entries:     K2C1_HUMAN (see all proteins) (see all similar genes):
    KRT7    KRT1B    KRTHB6    KRT5    KRT2    KRT78
    KRT8    KRT4    KRT72    KRT6A    KRT6B    KRT6C
    KRT77    KRT3    KRT76    KRT75    KRT86    KRT79

    Find genes that share paralogs with KRT1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for KRT1
    PGOHUM00000239458


    (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
    K2C1_HUMAN, P04264: There are two size variants of KRT1, termed allele 1A and allele 1B with allelic frequencies of 0.61
    and 0.39. Allele 1B lacks 7 residues compared to allele 1A


    Selected SNPs for KRT1 (see all 325)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs602797071,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 untested152904485(-) GAGAAA/C/GAAAGC 3 K Q E mis10--------
    rs569146021,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 untested152904496(-) CCTCCC/G/TGGAGG 3 P R L mis10--------
    rs584200871,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 pathogenic152904508(-) CACCTA/GCAGGA 2 Y C mis10--------
    rs578371281,2,,4
    CIchthyosis annular epidermolytic (AEI)4 pathogenic152904517(-) GGAGAC/TTGCCA 2 T I mis10--------
    rs612184391,2,,4
    CIchthyosis annular epidermolytic (AEI)4 pathogenic152904518(-) TGGAGA/TTTGCC 2 I F mis10--------
    rs580628631,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 untested152905628(-) TATGGA/G/TCAACA 3 D G V mis10--------
    rs594294551,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 pathogenic152907988(-) CTCAAA/CAACCA 2 K N mis10--------
    rs589283701,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 untested152907989(-) ACTCAA/C/GCAACC 3 N T S mis10--------
    rs576951591,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 pathogenic152908070(-) GAGCCC/TTCTTC 2 P L mis10--------
    rs579590721,2,,4
    CEpidermolytic hyperkeratosis (EHK)4 pathogenic152908088(-) AGAAGA/G/TCACTA 3 D G V mis10--------

    HapMap Linkage Disequilibrium report for KRT1 (53068520 - 53074191 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KRT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832415CNV Loss17160897
    nsv899092CNV Gain21882294
    nsv428281CNV Gain18775914

    Human Gene Mutation Database (HGMD): KRT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT1
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT1

    (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.)
    About This Section

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    OMIM gene information: 139350   
    OMIM disorders: 113800  607602  146590  600962  144200  607654  
    UniProtKB/Swiss-Prot: K2C1_HUMAN, P04264
  • 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 hystrix, Curth-Macklin type (IHCM) [MIM:146590]: A genodermatosis with severe verrucous
    hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with
    truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Keratoderma, palmoplantar, non-epidermolytic (NEPPK) [MIM:600962]: A dermatological disorder
    characterized by well-demarcated hyperkeratosis is present over the palms and soles. A red band is frequently
    present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the
    lesions at the wrists. 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
  • Keratoderma, palmoplantar, striate 3 (SPPK3) [MIM:607654]: A dermatological disorder characterized by
    thickening of the stratum corneum and epidermal layers on palms and soles. There is no involvement of
    non-palmoplantar skin, and both hair and nails are normal. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for KRT1 (see all 32):    
    About MalaCards
    syringoma    keratosis palmoplantaris striata 3    congenital ichthyosiform erythroderma    ichthyosis histrix, curth-macklin type
    nonepidermolytic palmoplantar keratoderma    ichthyosis, cyclic, with epidermolytic hyperkeratosis    krt1-related epidermolytic hyperkeratosis    palmoplantar keratoderma, epidermolytic
    keratosis palmoplantaris striata i, ad    epidermolytic hyperkeratosis    ichthyosis bullosa of siemens    eccrine porocarcinoma
    acanthoma    epidermolytic acanthoma    lymphocytic choriomeningitis    actinic keratosis
    sweat gland carcinoma    keratoderma    recessive dystrophic epidermolysis bullosa    hidradenitis suppurativa

    5 diseases from the University of Copenhagen DISEASES database for KRT1:
    Epidermolytic hyperkeratosis     Keratosis     Epidermolysis bullosa simplex     Epidermolytic acanthoma
    Congenital ichthyosiform erythroderma

    Find genes that share disorders with KRT1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for KRT1 gene (see all 42)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bullous congenital ichthyosiform erythroderma 94 18 14705805 (1), 16361731 (1), 7507152 (1), 11531804 (1) (see all 16)
    keratoderma palmoplantar 85.3 15 11558869 (2), 11982762 (1), 15214894 (1), 10597140 (1) (see all 11)
    hyperkeratosis 84.2 8 14705805 (1), 15214894 (1), 10597140 (1), 11286616 (1) (see all 6)
    palmoplantar keratoderma, epidermolytic 83.5 4 16439967 (1), 11286630 (1), 16417221 (1), 19470048 (1)
    ichthyosis 80.4 11 20500210 (2), 11676820 (1), 7521372 (1), 16417221 (1) (see all 8)
    epidermolysis bullosa simplex 72.2 6 12648226 (2), 16417221 (1)
    keratoderma 67.9 4 7528239 (1), 9482839 (1), 11558869 (1)
    skin diseases 54.8 7 8844119 (1), 9742571 (1), 7512983 (1), 8603923 (1) (see all 6)
    sarcoma epithelioid 47.3 2 11521233 (2)
    carcinoma squamous cell 44.5 6 7682400 (1), 11054023 (1), 8634660 (1), 7690007 (1) (see all 6)

    Genetic Association Database (GAD): KRT1
    Human Genome Epidemiology (HuGE) Navigator: KRT1 (1 document)

    Export disorders for KRT1 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

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    PubMed articles for KRT1 gene, integrated from 10 sources (see all 349):
    (articles sorted by number of sources associating them with KRT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. (PubMed id 12406346)1, 2, 9 Terron-Kwiatkowski A.... Irvine A.D. (J. Invest. Dermatol. 2002)
    2. Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene. (PubMed id 10597140)1, 2, 9 Michael E.J.... Christiano A.M. (Exp. Dermatol. 1999)
    3. Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. (PubMed id 11286630)1, 2, 9 Hatsell S.J.... Kelsell D.P. (J. Invest. Dermatol. 2001)
    4. New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. (PubMed id 11531804)1, 2, 9 Whittock N.V....McGrath J.A. (Br. J. Dermatol. 2001)
    5. 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)
    6. A leucine-->proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. (PubMed id 1381288)1, 2, 9 Chipev C.C.... Steinert P.M. (Cell 1992)
    7. Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene. (PubMed id 10844506)1, 2, 9 Cserhalmi-Friedman P.B.... Christiano A.M. (Clin. Exp. Dermatol. 2000)
    8. Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis. (PubMed id 10688370)1, 2, 9 Arin M.J.... Roop D.R. (Exp. Dermatol. 2000)
    9. An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis. (PubMed id 10232403)1, 2, 9 Arin M.J....Roop D.R. (Exp. Dermatol. 1999)
    10. A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. (PubMed id 7528239)1, 2, 9 Kimonis V....Compton J.G. (J. Invest. Dermatol. 1994)

    (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)
    About This Section

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    Entrez Gene: 3848 HGNC: 6412 AceView: KRT1 Ensembl:ENSG00000167768 euGenes: HUgn3848
    ECgene: KRT1 H-InvDB: KRT1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for KRT1 Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KRT1[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Keratin_1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KRT1 gene:
    Search GeneIP for patents involving KRT1

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



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