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KRT16 Gene

protein-coding   GIFtS: 60
GCID: GC17M039766

Keratin 16

  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 161 2     NEPPK2
Focal Non-Epidermolytic Palmoplantar Keratoderma1 2     Cytokeratin 162
CK-162 3     cytokeratin-162
K162 3     Keratin, Type I Cytoskeletal 162
KRT16A2 3     keratin-162
FNEPPK2 5     Cytokeratin-163
CK162     Keratin-163
K1CP2     PC15

External Ids:    HGNC: 64231   Entrez Gene: 38682   Ensembl: ENSG000001868327   OMIM: 1480675   UniProtKB: P087793   

Export aliases for KRT16 gene to outside databases

Previous GC identifers: GC17M020580 GC17M041881 GC17M039544 GC17M040139 GC17M037019 GC17M035529


(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 KRT16 Gene:
The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament
proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and
hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of
heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been
coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles.
Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar
keratoderma and unilateral palmoplantar verrucous nevus. (provided by RefSeq, Jul 2008)

GeneCards Summary for KRT16 Gene:
KRT16 (keratin 16) is a protein-coding gene. Diseases associated with KRT16 include krt16-related pachyonychia congenita, and palmoplantar keratoderma, nonepidermolytic, focal. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is KRT34.

Gene Wiki entry for KRT16 (Keratin 16) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRT16 gene promoter:
         TBP   STAT1   ATF-2   Pax-6   RREB-1   Lmo2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT16 promoter sequence
   Search Chromatin IP Primers for KRT16

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT16


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

KRT16 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT16 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039766:  view genomic region     (about GC identifiers)

Start:
39,766,030 bp from pter      End:
39,772,151 bp from pter
Size:
6,122 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: K1C16_HUMAN, P08779 (See protein sequence)
Recommended Name: Keratin, type I cytoskeletal 16  
Size: 473 amino acids; 51268 Da
Subunit: Heterodimer of a type I and a type II keratin. KRT16 associates with KRT6 isomers. Interacts with TCHP.
Interacts with TRADD (By similarity)
Mass spectrometry: Mass=50924.66; Method=MALDI; Range=2-473; Source=PubMed:11840567;
Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to
basic) (40-55 and 56-70 kDa, respectively)
Secondary accessions: A8K488 P30654 Q16402 Q9UBG8

Explore the universe of human proteins at neXtProt for KRT16: NX_P08779

Explore proteomics data for KRT16 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KRT16 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005548.2  
    ENSEMBL proteins: 
     ENSP00000301653   ENSP00000467124   ENSP00000467105  

    KRT16 Human Recombinant Protein Products:

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    Novus Biologicals KRT16 Proteins
    Novus Biologicals KRT16 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for KRT16

    KRT16 Antibody Products:

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    Abcam antibodies for KRT16 (P13646, P08779)
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    ThermoFisher Antibody for KRT16
    LSBio Antibodies in human, mouse, rat for KRT16

    KRT16 Assay Products:

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    Cloud-Clone Corp. CLIAs for KRT16


    (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)

    3 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR002957 Keratin_I

    Graphical View of Domain Structure for InterPro Entry P08779

    ProtoNet protein and cluster: P08779

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


    UniProtKB/Swiss-Prot: K1C16_HUMAN, P08779
    Similarity: Belongs to the intermediate filament family


    KRT16 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 KRT16:
    keratin 16,type I,hair follicle,nail bed,palmoplantar skin,suprabasal orogenital mucosal keratinocytes,dimerizing
    with KRT6A,KRT6B

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton NAS2451124
    GO:0005515protein binding IPI15731013
         
    KRT16 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Krt16):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  growth/size/body 
     homeostasis/metabolism  integument  mortality/aging 

    KRT16 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Krt16tm1(KOMP)Vlcg for KRT16

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KRT16
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KRT16

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KRT16
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KRT16

    miRNA
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    Block miRNA regulation of human, mouse, rat KRT16 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate KRT16
    SwitchGear 3'UTR luciferase reporter plasmidKRT16 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KRT16
    Predesigned siRNA for gene silencing in human, mouse, rat KRT16

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for KRT16 (see all 6)
    OriGene ORF clones in mouse, rat for KRT16
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KRT16 (NM_005557)
    Sino Biological Human cDNA Clone for KRT16
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT16
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT16

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for KRT16 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT16


    (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
    nucleus2
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005882intermediate filament NAS2451124
    GO:0045095keratin filament ----
    GO:0070062extracellular vesicular exosome IDA19199708
    GO:0071944cell periphery ----

    KRT16 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 KRT16 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for KRT16
        Cytoskeleton remodeling Keratin filaments



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KRT16
    Interactions:

        GeneGlobe Interaction Network for KRT16

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for KRT16 (P087792, 3 ENSP000003016534) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TANKQ928442, 3, ENSP000002590754MINT-48265 I2D: score=2 STRING: ENSP00000259075
    TRADDQ156283, ENSP000003412684I2D: score=1 STRING: ENSP00000341268
    TCHPQ9BT923, ENSP000003244044I2D: score=1 STRING: ENSP00000324404
    BANF1O755313, ENSP000003102754I2D: score=1 STRING: ENSP00000310275
    PPP2R2BQ000053, ENSP000003365914I2D: score=1 STRING: ENSP00000336591
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization NAS2451124
    GO:0008283cell proliferation TAS8595410
    GO:0008544epidermis development TAS7539673
    GO:0010043response to zinc ion ----
    GO:0010212response to ionizing radiation ----

    KRT16 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 KRT16 (K1C16)

    Selected Novoseek inferred chemical compound relationships for KRT16 gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcipotriol 72.1 1 8996256 (1)
    ttnpb 67.1 1 1698888 (1)
    dithranol 57.9 1 9167334 (1)
    retinoid 49.8 5 1370674 (1), 8915849 (1), 1698888 (1), 1376755 (1)
    clobetasol propionate 41.7 1 9055356 (1)
    retinoic acid 39.1 9 1698888 (2), 1370674 (1), 1711202 (1), 8647816 (1) (see all 6)
    betamethasone 33.5 1 12709818 (1)
    sodium dodecylsulfate 29.6 5 7547390 (1), 9686973 (1)
    isotretinoin 29.1 1 7967513 (1)
    1,25 dihydroxy vitamin d3 9.69 1 8996256 (1)



    KRT16 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 KRT16 gene: 
    NM_005557.3  

    Unigene Cluster for KRT16:

    Keratin 16
    Hs.655160  [show with all ESTs]
    Unigene Representative Sequence: NM_005557
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301653(uc002hxg.4) ENST00000593067 ENST00000588319 ENST00000590990

    miRNA
    Products:
         
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    OriGene RNAi products in human, mouse, rat for KRT16
    Predesigned siRNA for gene silencing in human, mouse, rat KRT16
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KRT16 (NM_005557)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT16
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT16
    Primer
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    OriGene qPCR primer pairs and template standards for KRT16
    OriGene qSTAR qPCR primer pairs in human, mouse for KRT16
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KRT16
      QuantiTect SYBR Green Assays in human, mouse, rat KRT16
      QuantiFast Probe-based Assays in human, mouse, rat KRT16

    Additional mRNA sequence: 

    AF061812.1 AK290853.1 AK309278.1 AK309296.1 BC039169.1 S72493.2 S79867.1 

    Selected DOTS entries (see all 36):

    DT.92325263  DT.92049602  DT.100776232  DT.95164435  DT.100776230  DT.120986389  DT.120986040  DT.120985802 
    DT.120985862  DT.95164389  DT.95282038  DT.120986391  DT.95252778  DT.120985764  DT.120985815  DT.120985831 
    DT.120985893  DT.91778161  DT.100776229  DT.100798819  DT.100798829  DT.102839919  DT.120930835  DT.120985847 

    Selected AceView cDNA sequences (see all 659):

    CR595280 CR599780 X62571 CB149996 AW368880 BC000159 BQ353873 CR622158 
    CR612161 BU727777 BM016596 T28448 BG876923 BG876925 CB127182 BE140671 
    BG679362 BG680935 AI127631 BM979795 BQ352406 CR598766 BM913705 BG676187 

    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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    KRT16 expression in normal human tissues (normalized intensities)      KRT16 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCTGTCCC
    KRT16 Expression
    About this image


    KRT16 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Hair (Integumentary System)    fully expand to see all 2 entries
             Fetal Medulla Cells Hair Shaft
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Basal Cells Respiratory Bronchioles
             Mature airway epithelial cells
     
     Epithelial Cells
             Fetal Medulla Cells Hair Shaft
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
    KRT16 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT16 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655160

    UniProtKB/Swiss-Prot: K1C16_HUMAN, P08779
    Tissue specificity: Expressed in the hair follicle, nail bed and in mucosal stratified squamous epithelia and,
    suprabasally, in oral epithelium and palmoplantar epidermis. Also found in luminal cells of sweat and mammary
    gland ducts

        Custom PCR Arrays for KRT16
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    QuantiFast Probe-based Assays in human, mouse, rat KRT16
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT16

    (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 KRT16 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt161 , 5 keratin 161, 5 82.78(n)1
    83.44(a)1
      11 (63.44 cM)5
    166661  NM_008470.11  NP_032496.11 
     1002460915 
    chicken
    (Gallus gallus)
    Aves KRT146
    --
    keratin, type I cytoskeletal 14-like
    67(a)
    65(a)
    many ↔ many
    many ↔ many
    27(4618778-4622608)
    27(4625662-4629416)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    66(a)
    65(a)
    many ↔ many
    many ↔ many
    6(70841228-70856140)
    6(70865282-70875799)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.255562 Danio rerio cDNA clone MGC55334 IMAGE2601054, complete more 77.68(n)    BC044144.1 


    ENSEMBL Gene Tree for KRT16 (if available)
    TreeFam Gene Tree for KRT16 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRT16 gene
    KRT342  KRT172  KRT312  KRT252  KRT392  KRT402  KRT202  KRT372  
    KRT272  KRT322  KRT382  KRT362  KRT192  KRT282  KRT142  KRT132  
    KRT262  KRT102  KRT122  KRT352  KRT152  KRT242  KRT33B2  KRT92  
    KRT33A2  
    Selected SIMAP similar genes for KRT16 using alignment to 3 protein entries:     K1C16_HUMAN (see all proteins) (see all similar genes):
    keratin    KRT14    K14    GUCA1B    JUP    KRT17
    KRT15    KRT13    KRT19    KRT34    KRT33A    KRT12
    KRT31    KRT33B    KRT10    KRT35    KRT20    KRT32

    KRT16 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for KRT16
    PGOHUM00000236939 PGOHUM00000236963 PGOHUM00000236964 PGOHUM00000237255 PGOHUM00000237256


    (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 KRT16 (see all 262)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs593284511,2,,4
    C,FPachyonychia congenita 1 (PC1)4 pathogenic140554326(-) CAGAAA/TGCATC 2 K N mis11Minor allele frequency- T:0.00NA 3122
    rs609449491,2,,4
    CPachyonychia congenita 1 (PC1)4 pathogenic140556071(-) CTACCC/TGGACA 2 P L mis10--------
    rs289288951,2,,4
    CPachyonychia congenita 1 (PC1)4 pathogenic140556083(-) CCGCCA/TGGCCT 2 Q L mis10--------
    rs574247491,2,,4
    CPachyonychia congenita 1 (PC1)4 pathogenic140556086(-) TGACCC/GCCTGG 2 P R mis10--------
    rs598562851,2,,4
    CKeratoderma, palmoplantar, non-epidermolytic, focal (FNEPPK)4 pathogenic140556087(-) ATGACC/TGCCTG 2 R C mis10--------
    rs582936031,2,,4
    CPachyonychia congenita 1 (PC1)4 pathogenic140556095(-) GAACCA/C/G/
            
    CAATG
    4 H P R L mis10--------
    rs593497731,2,,4
    CPachyonychia congenita 1 (PC1)4 pathogenic140556101(-) CATGCA/CGAACC 2 Q P mis10--------
    rs289288941,2,,4
    CPachyonychia congenita 1 (PC1)4 pathogenic140556104(-) GACCAA/C/TGCAGA 3 K T M mis1 ese30--------
    rs6733781,2
    F--35529820(-) GAGGAG/AACCAA 3 /D /E mis13Minor allele frequency- A:0.50NA 66
    rs712437941,2
    C--35530035(-) ACTCAT/CGGGAC 1 -- int12Minor allele frequency- C:0.25NA 4

    HapMap Linkage Disequilibrium report for KRT16 (39766030 - 39772151 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for KRT16:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv34903CNV Gain17911159
    nsv827992CNV Gain20364138
    dgv962e1CNV Complex17122850
    dgv961e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): KRT16
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT16
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT16

    (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: 148067   
    OMIM disorders: 167200  613000  
    UniProtKB/Swiss-Prot: K1C16_HUMAN, P08779
  • Pachyonychia congenita 1 (PC1) [MIM:167200]: An autosomal dominant ectodermal dysplasia characterized by
    hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail),
    palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet
    is usually present. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Keratoderma, palmoplantar, non-epidermolytic, focal (FNEPPK) [MIM:613000]: A dermatological disorder
    characterized by non-epidermolytic palmoplantar keratoderma limited to the pressure points on the balls of the
    feet, with later mild involvement on the palms. Oral, genital and follicular keratotic lesions are often present.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Unilateral palmoplantar verrucous nevus (UPVN) [MIM:144200]: UPVN is characterized by a localized
    epidermolytic hyperkeratosis in parts of the right palm and the right sole, following the lines of Blaschko.
    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 KRT16 (see all 53):    About MalaCards
    krt16-related pachyonychia congenita    palmoplantar keratoderma, nonepidermolytic, focal    pachyonychia congenita    verrucous nevus
    nonepidermolytic palmoplantar hyperkeratosis    keratoderma    hypertrophic scars    focal palmoplantar keratoderma
    acanthoma    steatocystoma multiplex    palmoplantar keratoderma, epidermolytic    irritant dermatitis
    pityriasis rubra pilaris    middle ear cholesteatoma    epidermolytic acanthoma    pachyonychia congenita type 2
    diabetic foot ulcers    monilethrix    fissured tongue    lichen planus

    6 diseases from the University of Copenhagen DISEASES database for KRT16:
    Pachyonychia congenita     Keratosis     Psoriasis     Irritant dermatitis
    Epidermolysis bullosa simplex     Epidermolytic hyperkeratosis

    KRT16 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for KRT16 gene (see all 33)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pachyonychia congenita, type 1 92.7 3 9028791 (1), 11886499 (1), 10606845 (1)
    psoriasis 81.3 20 7577575 (4), 9167334 (1), 17089010 (1), 7516410 (1) (see all 13)
    keratoderma palmoplantar 76.8 2 9028791 (1)
    neppk 75.3 2 9028791 (1)
    pachyonychia congenita, type 2 74.9 2 9028791 (1), 11886499 (1)
    nail dystrophy 73.7 2 19609311 (1), 19785597 (1)
    palmoplantar keratoderma, epidermolytic 73.5 1 12688839 (1)
    hyperkeratosis 70.5 1 19171978 (1)
    acanthosis 68.6 1 9420535 (1)
    keratoderma 67.7 2 17719747 (1), 19785597 (1)

    GeneTests: KRT16
    GeneReviews: KRT16

    Export disorders for KRT16 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 KRT16 gene, integrated from 10 sources (see all 258):
    (articles sorted by number of sources associating them with KRT16)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A group of type I keratin genes on human chromosome 17: characterization and expression. (PubMed id 2451124)1, 2, 3 Rosenberg M.... Fuchs E. (Mol. Cell. Biol. 1988)
    2. Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. (PubMed id 10839714)1, 2, 9 Smith F.J.... McLean W.H.I. (Exp. Dermatol. 2000)
    3. 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)
    4. Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1. (PubMed id 10521820)1, 2, 9 Smith F.J....McLean W.H.I. (Prenat. Diagn. 1999)
    5. Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. (PubMed id 11359398)1, 2, 9 Connors J.B.... Milstone L.M. (Br. J. Dermatol. 2001)
    6. Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1. (PubMed id 10606845)1, 2, 9 Smith F.J.D.... McLean W.H.I. (Br. J. Dermatol. 1999)
    7. A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus. (PubMed id 10844556)1, 2, 9 Terrinoni A.... Melino G. (J. Invest. Dermatol. 2000)
    8. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. (PubMed id 7539673)1, 2, 9 McLean W.H.I....Munro C.S. (Nat. Genet. 1995)
    9. Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families. (PubMed id 8595410)1, 2, 9 Shamsheer M.K.... Leigh I.M. (Hum. Mol. Genet. 1995)
    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: 3868 HGNC: 6423 AceView: KRT17andKRT14andKRT16 Ensembl:ENSG00000186832 euGenes: HUgn3868
    ECgene: KRT16 H-InvDB: KRT16

    (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 KRT16 Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KRT16[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KRT16 gene:
    Search GeneIP for patents involving KRT16

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



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