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KRT17 Gene

protein-coding   GIFtS: 65
GCID: GC17M039775

Keratin 17


(Previous symbol: PCHC1)
Microbiology & Infectious Diseases Congress
  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 171 2     Keratin 17 Epitope S12
PCHC11 2 5     Keratin 17 Epitope S22
39.12 3     Keratin 17 Epitope S42
CK-172 3     Keratin, Type I Cytoskeletal 172
K172 3     keratin-172
PC22 5     Cytokeratin-173
PC2     Keratin-173
cytokeratin-172     

External Ids:    HGNC: 64271   Entrez Gene: 38722   Ensembl: ENSG000001284227   OMIM: 1480695   UniProtKB: Q046953   

Export aliases for KRT17 gene to outside databases

Previous GC identifers: GC17M039265 GC17M041891 GC17M039545 GC17M040148 GC17M037029 GC17M035538


(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 KRT17 Gene:
This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle,
sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia
congenita and steatocystoma multiplex. (provided by RefSeq, Aug 2008)

GeneCards Summary for KRT17 Gene:
KRT17 (keratin 17) is a protein-coding gene. Diseases associated with KRT17 include steatocystoma multiplex, and krt17-related pachyonychia congenita. GO annotations related to this gene include MHC class II protein binding and structural constituent of cytoskeleton. An important paralog of this gene is KRT34.

UniProtKB/Swiss-Prot: K1C17_HUMAN, Q04695
Function: May play a role in the formation and maintenance of various skin appendages, specifically in determining
shape and orientation of hair. May be a marker of basal cell differentiation in complex epithelia and therefore
indicative of a certain type of epithelial "stem cells". May act as an autoantigen in the immunopathogenesis of
psoriasis, with certain peptide regions being a major target for autoreactive T-cells and hence causing their
proliferation. Required for the correct growth of hair follicles, in particular for the persistence of the anagen
(growth) state. Modulates the function of TNF-alpha in the specific context of hair cycling. Regulates protein
synthesis and epithelial cell growth through binding to the adapter protein SFN and by stimulating Akt/mTOR
pathway. Involved in tissue repair (By similarity)

Gene Wiki entry for KRT17 (Keratin 17) 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 KRT17 gene promoter:
         CRE-BP1   STAT1   p53   RREB-1   Lmo2   STAT3   Gfi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT17 promoter sequence
   Search Chromatin IP Primers for KRT17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT17


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

KRT17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT17 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039775:  view genomic region     (about GC identifiers)

Start:
39,775,689 bp from pter      End:
39,781,094 bp from pter
Size:
5,406 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: K1C17_HUMAN, Q04695 (See protein sequence)
Recommended Name: Keratin, type I cytoskeletal 17  
Size: 432 amino acids; 48106 Da
Subunit: Heterodimer of a type I and a type II keratin. KRT17 associates with KRT6 isomers. Interacts with TRADD
and SFN (By similarity)
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=AAH72018.1; Type=Frameshift; Positions=109;
Secondary accessions: A5Z1M9 A5Z1N0 A5Z1N1 A5Z1N2 A6NDV6 A6NKQ2 Q6IP98 Q8N1P6

Explore the universe of human proteins at neXtProt for KRT17: NX_Q04695

Explore proteomics data for KRT17 at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-44 occurs in a growth- and stress-dependent fashion in skin keratinocytes, it has no effect
    on filament organization1
  • Ubiquitination2 at Lys399
  • Modification sites at PhosphoSitePlus

  • See KRT17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000413.1  
    ENSEMBL proteins: 
     ENSP00000308452   ENSP00000468672   ENSP00000467418   ENSP00000466166  

    KRT17 Human Recombinant Protein Products:

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    KRT17 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for KRT17

    KRT17 Assay Products:

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    Cloud-Clone Corp. CLIAs for KRT17


    (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 Q04695

    ProtoNet protein and cluster: Q04695

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


    UniProtKB/Swiss-Prot: K1C17_HUMAN, Q04695
    Similarity: Belongs to the intermediate filament family


    KRT17 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: K1C17_HUMAN, Q04695
    Function: May play a role in the formation and maintenance of various skin appendages, specifically in determining
    shape and orientation of hair. May be a marker of basal cell differentiation in complex epithelia and therefore
    indicative of a certain type of epithelial "stem cells". May act as an autoantigen in the immunopathogenesis of
    psoriasis, with certain peptide regions being a major target for autoreactive T-cells and hence causing their
    proliferation. Required for the correct growth of hair follicles, in particular for the persistence of the anagen
    (growth) state. Modulates the function of TNF-alpha in the specific context of hair cycling. Regulates protein
    synthesis and epithelial cell growth through binding to the adapter protein SFN and by stimulating Akt/mTOR
    pathway. Involved in tissue repair (By similarity)
    Induction: Induced in damaged or stressed epidermis. Induced by the cytokines interferon-gamma (IFN-gamma), tumor
    necrosis factor alpha (TNF-alpha) and transforming growth factor-alpha (TGF-alpha), and by the potent NF-kappa B
    inhibitor compounds Bay 11-7082 and Bay 11-7085. Down-regulated by the drug Imatinib

         Genatlas biochemistry entry for KRT17:
    keratin 17,type I

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton TAS1281771
    GO:0005515protein binding IPI16189514
    GO:0032395MHC class II receptor activity IDA15795121
    GO:0042289MHC class II protein binding IPI15795121
         
    KRT17 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KRT17:
     Increased G1 DNA content 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Krt17):
     cellular  craniofacial  digestive/alimentary  integument  mortality/aging 
     no phenotypic analysis  pigmentation 

    KRT17 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Krt17tm1Cou for KRT17

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KRT17
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KRT17

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KRT17
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KRT17

    miRNA
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    miRTarBase miRNAs that target KRT17:
    hsa-mir-125a-5p (MIRT045724), hsa-mir-335-5p (MIRT017539)

    Block miRNA regulation of human, mouse, rat KRT17 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate KRT17:
    hsa-miR-505 hsa-miR-485-5p hsa-miR-3065-5p
    SwitchGear 3'UTR luciferase reporter plasmidKRT17 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for KRT17
    Predesigned siRNA for gene silencing in human, mouse, rat KRT17

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KRT17 (NM_000422)
    Sino Biological Human cDNA Clone for KRT17
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT17
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT17

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for KRT17 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT17


    (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
    K1C17_HUMAN, Q04695: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol3
    mitochondrion2
    extracellular1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005882intermediate filament IEA--
    GO:0070062extracellular vesicular exosome IDA19199708
    GO:0071944cell periphery IEA--

    KRT17 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 KRT17 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glucocorticoid receptor regulatory network
    Glucocorticoid receptor regulatory network
    2EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway
    3Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments
    4Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for KRT17
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for KRT17
        Cytoskeleton remodeling Keratin filaments

    2 BioSystems Pathways for KRT17
        EGFR1 Signaling Pathway
    Glucocorticoid receptor regulatory network




    KRT17 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KRT17
    Interactions:

        Search GeneGlobe Interaction Network for KRT17

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

    Selected Interacting proteins for KRT17 (Q046951, 2, 3 ENSP000003084524) via UniProtKB, MINT, STRING, and/or I2D (see all 114)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158341, 2, 3, ENSP000003116954EBI-297873,EBI-739674 MINT-67143 I2D: score=6 STRING: ENSP00000311695
    SFNP319472, 3, ENSP000003409894MINT-7900157 I2D: score=1 STRING: ENSP00000340989
    KRT8P057872, 3, ENSP000002933084MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000293308
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000238081
    YWHAZP631042, ENSP000003095034MINT-7899812 MINT-7900157 STRING: ENSP00000309503
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002009morphogenesis of an epithelium IEA--
    GO:0007165signal transduction IMP15795121
    GO:0008544epidermis development TAS7539673
    GO:0030307positive regulation of cell growth IEA--
    GO:0031424keratinization IEA--

    KRT17 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 KRT17 (K1C17)

    Selected Novoseek inferred chemical compound relationships for KRT17 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acitretin 35.1 1 15608502 (1)
    polyvinylpyrrolidone 29.8 1 16969700 (1)
    retinoid 25.2 1 1370674 (1)
    sodium dodecylsulfate 18.7 5 16472995 (1), 9686973 (1)
    paraffin 18.4 2 16365828 (1), 9428928 (1)
    nimodipine 15.8 4 17055711 (3), 16472995 (1)
    retinoic acid 11 2 1370674 (1), 8647816 (1)
    hydrocortisone 4.44 1 15608502 (1)
    asparagine 4.08 1 12653736 (1)
    oligonucleotide 0 4 14714564 (1)



    KRT17 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,
    Conferences by KenesGroup, 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 KRT17 gene: 
    NM_000422.2  

    Unigene Cluster for KRT17:

    Keratin 17
    Hs.2785  [show with all ESTs]
    Unigene Representative Sequence: BG680394
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000311208(uc002hxh.2) ENST00000493253 ENST00000463128 ENST00000577817
    ENST00000590038 ENST00000491673(uc010wft.2)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    3 qRT-PCR Assays for microRNAs that regulate KRT17:
    hsa-miR-505 hsa-miR-485-5p hsa-miR-3065-5p
    SwitchGear 3'UTR luciferase reporter plasmidKRT17 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: KRT17 (NM_000422)
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      QuantiTect SYBR Green Assays in human, mouse, rat KRT17
      QuantiFast Probe-based Assays in human, mouse, rat KRT17

    Additional mRNA sequence: 

    AK095342.1 AK304373.1 BC000159.2 BC011901.2 BC056421.1 BC072018.1 BC072019.1 BX647923.1 
    X05803.1 X62571.1 

    Selected DOTS entries (see all 79):

    DT.120985764  DT.100857115  DT.119493  DT.100708704  DT.100708693  DT.100708701  DT.120985917  DT.120985830 
    DT.95164373  DT.100708698  DT.95093143  DT.120986131  DT.120986479  DT.102830066  DT.92410197  DT.92462181 
    DT.95235133  DT.95217076  DT.100708707  DT.95164428  DT.95164507  DT.99935891  DT.97822128  DT.95177431 

    Selected AceView cDNA sequences (see all 659):

    BG676127 BG698029 CR608860 BG677362 CR624973 T28448 BG876919 AI609210 
    BG876925 AU117850 CR621301 CR626072 BG677893 BG675924 BX464874 CR608685 
    BG673990 BM016596 CR605895 AW368881 BQ353870 CB128552 CR621616 BC011901 

    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 Genevestigator, and/or 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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    KRT17 expression in normal human tissues (normalized intensities)      KRT17 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTCCTTGCC
    KRT17 Expression
    About this image


    KRT17 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
     
     Hair (Integumentary System)    fully expand to see all 4 entries
             Fetal Medulla Cells Hair Shaft
     
     Epithelial Cells
             Fetal Medulla Cells Hair Shaft
     
     Bone (Muscoskeletal System)    fully expand to see all 9 entries
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 8 entries
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Basal Cells Respiratory Bronchioles
    KRT17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT17 Protein Expression

    Genevestigator expression for KRT17

    SOURCE GeneReport for Unigene cluster: Hs.2785

    UniProtKB/Swiss-Prot: K1C17_HUMAN, Q04695
    Tissue specificity: Expressed in the outer root sheath and medulla region of hair follicle specifically from
    eyebrow and beard, digital pulp, nail matrix and nail bed epithelium, mucosal stratified squamous epithelia and
    in basal cells of oral epithelium, palmoplantar epidermis and sweat and mammary glands. Also expressed in
    myoepithelium of prostate, basal layer of urinary bladder, cambial cells of sebaceous gland and in exocervix (at
    protein level)

        Custom PCR Arrays for KRT17
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT17

    (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 KRT17 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt171 , 5 keratin 171, 5 90.59(n)1
    95.37(a)1
      11 (63.44 cM)5
    166671  NM_010663.21  NP_034793.11 
     1002562175 
    chicken
    (Gallus gallus)
    Aves KRT146
    --
    keratin, type I cytoskeletal 14-like
    69(a)
    69(a)
    many ↔ many
    many ↔ many
    27(4618778-4622608)
    27(4625662-4629416)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    69(a)
    69(a)
    many ↔ many
    many ↔ many
    6(70865282-70875799)
    6(70841228-70856140)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004908971 keratin, type I cytoskeletal 42-like 70.27(n)
    74.43(a)
      100490897  XM_002939031.2  XP_002939077.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF084461.12   -- 75.57(n)   30327  AF084461.1 


    ENSEMBL Gene Tree for KRT17 (if available)
    TreeFam Gene Tree for KRT17 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRT17 gene
    KRT342  KRT162  KRT312  KRT252  KRT392  KRT402  KRT202  KRT372  
    KRT272  KRT322  KRT382  KRT362  KRT192  KRT282  KRT142  KRT132  
    KRT262  KRT102  KRT122  KRT352  KRT152  KRT242  KRT92  KRT33B2  
    KRT33A2  
    Selected SIMAP similar genes for KRT17 using alignment to 4 protein entries:     K1C17_HUMAN (see all proteins) (see all similar genes):
    keratin    GUCA1B    KRT16    KRT15    JUP    K14
    KRT19    KRT14    KRT32    KRT9    KRT13    KRT33B
    KRT31    KRT10    KRT20    KRT27    KRT34    KRT39

    KRT17 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for KRT17
    PGOHUM00000239656 PGOHUM00000236940 PGOHUM00000236966 PGOHUM00000237017 PGOHUM00000237254


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KRT17 (see all 253)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0105124
    Steatocystoma multiplex (SM)4--see VAR_0105122 M T mis40--------
    VAR_0170744
    Pachyonychia congenita 2 (PC2)4--see VAR_0170742 V M mis40--------
    VAR_0170734
    Pachyonychia congenita 2 (PC2)4--see VAR_0170732 L P mis40--------
    VAR_0170704
    Pachyonychia congenita 2 (PC2)4--see VAR_0170702 L Q mis40--------
    VAR_0038494
    Pachyonychia congenita 2 (PC2)4--see VAR_0038492 N S mis40--------
    VAR_0370834
    Pachyonychia congenita 2 (PC2)4--see VAR_0370832 N D mis40--------
    VAR_0170714
    Pachyonychia congenita 2 (PC2)4--see VAR_0170712 L P mis40--------
    VAR_0038484
    Steatocystoma multiplex (SM)4--see VAR_0038482 N H mis40--------
    VAR_0170684
    Pachyonychia congenita 2 (PC2)4--see VAR_0170682 R P mis40--------
    VAR_0038514
    Pachyonychia congenita 2 (PC2)4--see VAR_0038512 Y D mis40--------

    HapMap Linkage Disequilibrium report for KRT17 (39775689 - 39781094 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for KRT17:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv34903CNV Gain17911159
    nsv827992CNV Gain20364138
    dgv962e1CNV Complex17122850
    dgv961e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): KRT17
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT17
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT17

    (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.)
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    OMIM gene information: 148069   
    OMIM disorders: 167210  184500  
    UniProtKB/Swiss-Prot: K1C17_HUMAN, Q04695
  • Pachyonychia congenita 2 (PC2) [MIM:167210]: An autosomal dominant ectodermal dysplasia characterized by
    hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail),
    palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse
    eyebrow and body hair, and by the presence of natal teeth. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Steatocystoma multiplex (SM) [MIM:184500]: Disease characterized by round or oval cystic tumors widely
    distributed on the back, anterior trunk, arms, scrotum, and thighs. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Note=KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas
    of the uterine cervix and in psoriasis vulgaris

  • Selected diseases for KRT17 (see all 52):    About MalaCards
    steatocystoma multiplex    krt17-related pachyonychia congenita    pachyonychia congenita type 2    pili torti
    cervical intraepithelial neoplasia    pleuropneumonia    ampulla of vater adenocarcinoma    pachyonychia congenita
    keratoacanthoma    monilethrix    primary cutaneous amyloidosis    klebsiella
    focal palmoplantar keratoderma    keratoderma    oral submucous fibrosis    epidermolysis bullosa simplex
    epidermolysis bullosa    ectodermal dysplasia    corneal dystrophy    skin disease

    3 diseases from the University of Copenhagen DISEASES database for KRT17:
    Pachyonychia congenita     Basal cell carcinoma     Psoriasis

    KRT17 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for KRT17 gene (see all 37)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pachyonychia congenita, type 2 96.3 14 9028791 (1), 11886499 (1), 9767294 (1), 18547302 (1) (see all 13)
    steatocystoma multiplex 88 15 9767294 (3), 9185910 (3), 9008238 (2), 9028791 (1) (see all 6)
    pachyonychia congenita, type 1 82.6 2 9028791 (1), 11886499 (1)
    nail dystrophy 80 3 9767294 (1), 19609311 (1), 19785597 (1)
    pili torti 78.2 4 14714564 (1), 10844551 (1)
    keratoderma 77.5 1 19785597 (1)
    neppk 76.2 2 9028791 (1)
    ectodermal dysplasia 68 1 15102087 (1)
    epidermolysis bullosa simplex 67.3 1 14578178 (1)
    keratoderma palmoplantar 66.3 2 9028791 (1)

    GeneTests: KRT17
    GeneReviews: KRT17

    Export disorders for KRT17 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 KRT17 gene, integrated from 10 sources (see all 265):
    (articles sorted by number of sources associating them with KRT17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. (PubMed id 7539673)1, 2, 3, 9 McLean W.H.I....Munro C.S. (Nat. Genet. 1995)
    2. Characterization of the human gene encoding cytokeratin 17 and its expression pattern. (PubMed id 1281771)1, 2, 3, 9 Troyanovsky S.M.... Franke W.W. (Eur. J. Cell Biol. 1992)
    3. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. (PubMed id 9767294)1, 2, 9 Covello S.P.... McLean W.H.I. (Br. J. Dermatol. 1998)
    4. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. (PubMed id 9008238)1, 2, 9 Smith F.J.D.... McLean W.H.I. (J. Invest. Dermatol. 1997)
    5. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (PubMed id 11886499)1, 2, 9 Terrinoni A.... McLean W.H.I. (J. Invest. Dermatol. 2001)
    6. HLA DR B1*04, *07-restricted epitopes on Keratin 17 for autoreactive T cells in psoriasis. (PubMed id 15795121)1, 2, 9 Shen Z.... Liu Y.-F. (J. Dermatol. Sci. 2005)
    7. Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2. (PubMed id 10571744)1, 2, 9 Celebi J.T.... Peacocke M. (J. Invest. Dermatol. 1999)
    8. Novel keratin 17 mutations in pachyonychia congenita type 2. (PubMed id 11348474)1, 2, 9 Smith F.J.D.... McLean W.H.I. (J. Invest. Dermatol. 2001)
    9. Type I keratin 17 protein is phosphorylated on serine 44 by p90 ribosomal protein S6 kinase 1 (RSK1) in a growth- and stress-dependent fashion. (PubMed id 22006917)1, 2 Pan X....Coulombe P.A. (J. Biol. Chem. 2011)
    10. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (J. Cell Biol. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3872 HGNC: 6427 AceView: KRT17andKRT14andKRT16 Ensembl:ENSG00000128422 euGenes: HUgn3872
    ECgene: KRT17 H-InvDB: KRT17

    (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 KRT17 Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KRT17[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Keratin_17

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KRT17 gene:
    Search GeneIP for patents involving KRT17

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



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