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

KRT18 Gene

protein-coding   GIFtS: 70
GCID: GC12P053343

Keratin 18

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)
About This Section

Aliases
Keratin 181 2     Cytokeratin 182
Cell Proliferation-Inducing Gene 46 Protein2 3     cytokeratin-182
CK-182 3     Keratin, Type I Cytoskeletal 182
CYK182 3     keratin-182
K182 3     Cytokeratin-183
Cell Proliferation-Inducing Protein 462     Keratin-183

External Ids:    HGNC: 64301   Entrez Gene: 38752   Ensembl: ENSG000001110577   OMIM: 1480705   UniProtKB: P057833   

Export aliases for KRT18 gene to outside databases

Previous GC identifers: GC12M053340 GC12M053554 GC12P053059 GC12P051630 GC12P051631 GC12P051632 GC12P050386


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

Entrez Gene summary for KRT18 Gene:
KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner
keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are
expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic
cirrhosis. Two transcript variants encoding the same protein have been found for this gene. (provided by RefSeq,
Jul 2008)

GeneCards Summary for KRT18 Gene: 
KRT18 (keratin 18) is a protein-coding gene. Diseases associated with KRT18 include gallbladder sarcoma, and schneiderian carcinoma, and among its related super-pathways are Development Slit-Robo signaling and Cytoskeleton remodeling Keratin filaments. GO annotations related to this gene include scaffold protein binding and structural molecule activity. An important paralog of this gene is BFSP2.

UniProtKB/Swiss-Prot: K1C18_HUMAN, P05783
Function: Involved in the uptake of thrombin-antithrombin complexes by hepatic cells (By similarity). When
phosphorylated, plays a role in filament reorganization. Involved in the delivery of mutated CFTR to the plasma
membrane. Together with KRT8, is involved in interleukin-6 (IL-6)-mediated barrier protection

Gene Wiki entry for KRT18 (Keratin 18) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRT18 gene promoter:
         STAT3   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT18 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRT18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT18


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

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

KRT18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT18 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P053343:  view genomic region     (about GC identifiers)

Start:
53,342,655 bp from pter      End:
53,346,685 bp from pter
Size:
4,031 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: K1C18_HUMAN, P05783 (See protein sequence)
Recommended Name: Keratin, type I cytoskeletal 18  
Size: 430 amino acids; 48058 Da
Subunit: Heterotetramer of two type I and two type II keratins. KRT18 associates with KRT8. Interacts with the
thrombin-antithrombin complex (By similarity). Interacts with PNN, HCV core protein and mutated CFTR. Interacts
with YWHAE, YWHAH and YWHAZ only when phosphorylated. Interacts with DNAJB6, TCHP and TRADD
Subcellular location: Cytoplasm, perinuclear region. Nucleus, nucleolus
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: Q53G38 Q5U0N8 Q9BW26

Explore the universe of human proteins at neXtProt for KRT18: NX_P05783

Explore proteomics data for KRT18 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation at Ser-34 increases during mitosis. Hyperphosphorylated at Ser-53 in diseased cirrhosis liver.
    Phosphorylation increases by IL-6
  • UniProtKB: Proteolytically cleaved by caspases during epithelial cell apoptosis. Cleavage occurs at Asp-238 by either
    caspase-3, caspase-6 or caspase-7
  • UniProtKB: O-GlcNAcylation increases solubility, and decreases stability by inducing proteasomal degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P05783

  • KRT18 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KRT18 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000215.1  NP_954657.1  

    ENSEMBL proteins: 
     ENSP00000447278   ENSP00000373487   ENSP00000373489  

    Human Recombinant Protein Products for KRT18: 
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    ProSpec Recombinant Protein for KRT18
    Cloud-Clone Corp. Proteins for KRT18 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005815microtubule organizing center IDA18000879
    GO:0005882intermediate filament IDA10852826
    GO:0034451centriolar satellite IDA18000879

    KRT18 for ontologies           About GeneDecksing



    KRT18 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    IFF1: Intermediate filaments type I, keratins (acidic)

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

    Graphical View of Domain Structure for InterPro Entry P05783

    ProtoNet protein and cluster: P05783

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


    UniProtKB/Swiss-Prot: K1C18_HUMAN, P05783
    Similarity: Belongs to the intermediate filament family


    KRT18 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: K1C18_HUMAN, P05783
    Function: Involved in the uptake of thrombin-antithrombin complexes by hepatic cells (By similarity). When
    phosphorylated, plays a role in filament reorganization. Involved in the delivery of mutated CFTR to the plasma
    membrane. Together with KRT8, is involved in interleukin-6 (IL-6)-mediated barrier protection
    Induction: By IL6/interleukin-6

         Genatlas biochemistry entry for KRT18:
    keratin 18,type I,early embryonic simple epithelia,dimerizing with KRT8,including a 3' locus control region
    KRT18-LCR

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding IPI10954706
    GO:0097110scaffold protein binding IPI10852826
         
    KRT18 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KRT18:
     Increased cell death HMECs cel 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Krt18):
     embryogenesis  growth/size  liver/biliary system  mortality/aging 

    KRT18 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Krt18tm1Tmm for KRT18

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KRT18 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KRT18

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KRT18 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KRT18 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KRT18 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development Slit-Robo signaling
    Pathogenic Escherichia coli infection0.43
    Pathogenic Escherichia coli infection0.41
    2Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments0.91
    3Rho Family GTPases
    ILK Signaling0.49
    4Apoptosis and survival Caspase cascade
    Caspase cascade in apoptosis0.42
    5EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KRT18
        Cytoskeleton remodeling Keratin filaments

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KRT18
        ILK Signaling

    1 Cell Signaling Technology (CST) Pathway for KRT18
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for KRT18
        Cytoskeleton remodeling Keratin filaments

    3 BioSystems Pathways for KRT18
        EGFR1 Signaling Pathway
    Pathogenic Escherichia coli infection
    Caspase cascade in apoptosis



    1         Kegg Pathway  (Kegg details for KRT18):
        Pathogenic Escherichia coli infection


    KRT18 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KRT18

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

    5/180 Interacting proteins for KRT18 (P057831, 2, 3 ENSP000003734874) via UniProtKB, MINT, STRING, and/or I2D (see all 180)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA1AP081073, ENSP000003648024I2D: score=1 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0007049cell cycle IEA--
    GO:0009653anatomical structure morphogenesis TAS2434380
    GO:0019048modulation by virus of host morphology or physiology IEA--
    GO:0033209tumor necrosis factor-mediated signaling pathway IEA--

    KRT18 for ontologies           About GeneDecksing



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

    KRT18 for compounds           About GeneDecksing

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

    Browse Tocris compounds for KRT18 (K1C18)

    10/77 Novoseek inferred chemical compound relationships for KRT18 gene (see all 77)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    new fuchsin 75.2 2 7521088 (1), 7682210 (1)
    nash 55.7 25 19585618 (4), 19378390 (3), 19891019 (3), 19906783 (2) (see all 6)
    griseofulvin 49.9 4 8770877 (3), 10952237 (1)
    matrigel 41.8 1 12021244 (1)
    paraffin 40.9 10 9816144 (1), 15597196 (1), 17912630 (1), 1694766 (1) (see all 8)
    glycogen 35.4 6 17492221 (1), 19092233 (1), 19063660 (1), 19781766 (1)
    dutp 33.7 2 12015537 (1), 15194561 (1)
    diethyl dithiocarbamate 29.8 2 17187412 (2)
    estrogen 28.4 6 18300793 (1), 18715613 (1), 20340005 (1), 18360284 (1) (see all 5)
    progesterone 26.7 11 18300793 (1), 18715613 (1), 20340005 (1), 12835305 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about KRT18 / K1C18

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KRT18 gene (2 alternative transcripts): 
    NM_000224.2  NM_199187.1  

    Unigene Cluster for KRT18:

    Keratin 18
    Hs.406013  [show with all ESTs]
    Unigene Representative Sequence: BF569100
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000550600(uc009zmn.2) ENST00000388835(uc001sbg.3) ENST00000549078
    ENST00000548015 ENST00000546656 ENST00000548496 ENST00000388837(uc001sbe.3)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK129587.1 AK223093.1 AK308506.1 AK313988.1 AY762101.1 BC000180.2 BC000698.2 BC004253.1 
    BC008636.1 BC009754.2 BC020982.1 BC072017.1 BT019412.1 L32537.1 X12876.1 X12881.1 
    X12883.1 

    24/104 DOTS entries (see all 104):

    DT.91779938  DT.91780003  DT.97824751  DT.97807695  DT.91779860  DT.97863493  DT.121117764  DT.91779932 
    DT.100772221  DT.121118642  DT.121117671  DT.100700193  DT.100709494  DT.450789  DT.100700188  DT.121118265 
    DT.100858944  DT.100860177  DT.100700176  DT.91779894  DT.121118049  DT.100700189  DT.121117823  DT.95366609 

    24/3236 AceView cDNA sequences (see all 3236):

    BQ896668 BU501059 CB117447 AI431647 BU157822 BM754729 BQ690976 BU538481 
    BU859670 BE871608 CB148900 AA428664 BE536338 BU162870 BU857675 BU857125 
    BG250387 BF568158 CB143059 BE734408 BG473531 BU196563 BG026986 BE868275 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for KRT18 (see all 10)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e ^ 10a · 10b
    SP1:                                                  -                                                                                       
    SP2:                                                  -                                                                       -               
    SP3:        -     -                                   -                                                                                       
    SP4:                                                  -                                                                                       
    SP5:                                      -           -                                                                                       


    ECgene alternative splicing isoforms for KRT18

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KRT18 expression in normal human tissues (normalized intensities)      KRT18 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAACCATCC
    KRT18 Expression
    About this image


    KRT18 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/41 selected tissues (see all 41) fully expand
     
     Kidney (Urinary System)    fully expand to see all 7 entries
             Renal Collecting Duct System
             Tubular cell-enriched subpopulation of renal cells
             kidney ; cells in tubules   
             visceral organ/metanephros/calyx   
     
     Liver (Hepatobiliary System)    fully expand to see all 6 entries
             Hepatocytes Liver Lobule
             Hepatocyte-like cells ( Functional hepatocyte generation from human embryonic stem...
             Human Mesenchymal Stem Cell-hepatic (HMSC-he)   
     
     Lung (Respiratory System)    fully expand to see all 5 entries
             lung ; pneumocytes   
             Trachea   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 5 entries
             urinary bladder ; urothelial cells   
             visceral organ   
     
     Intestine
             small intestine ; glandular cells   
             small intestine   

    See KRT18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KRT18

    SOURCE GeneReport for Unigene cluster: Hs.406013

    UniProtKB/Swiss-Prot: K1C18_HUMAN, P05783
    Tissue specificity: Expressed in colon, placenta, liver and very weakly in exocervix. Increased expression
    observed in lymph nodes of breast carcinoma

        SABiosciences Expression via Pathway-Focused PCR Arrays including KRT18: 
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              Breast Cancer in human mouse rat
              Apoptosis 384HT in human mouse rat
              Hepatotoxicity in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KRT18 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt181 , 5 keratin 181, 5 85.35(n)1
    88.6(a)1
      15 (57.22 cM)5
    166681  NM_010664.21  NP_034794.21 
     1020282165 
    lizard
    (Anolis carolinensis)
    Reptilia KRT186
    Uncharacterized protein
    60(a)
    1 ↔ 1
    GL343250.1(1885755-1901737)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC054993.12   -- 75.93(n)    BC054993.1 
    zebrafish
    (Danio rerio)
    Actinopterygii krt182 keratin 18 77.52(n)   352912  BC045869.1 


    ENSEMBL Gene Tree for KRT18 (if available)
    TreeFam Gene Tree for KRT18 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRT18 gene
    BFSP22  KRT202  KRT232  
    18/59 SIMAP similar genes for KRT18 using alignment to 3 protein entries:     K1C18_HUMAN (see all proteins) (see all similar genes):
    FLJ40504    type I hair keratin    K14    KRT31    KRT33A    KRT33B
    KRT15    KRT34    GUCA1B    KRT13    KRT19    KRT14
    keratin    KRT40    KRT16    KRT32    KRT10    KRT35

    KRT18 for paralogs           About GeneDecksing


    5/75 Pseudogenes.org Pseudogenes for KRT18 (see all 75)
    PGOHUM00000242153 PGOHUM00000257807 PGOHUM00000257930 PGOHUM00000239498 PGOHUM00000258643


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/206 SNPs in KRT18 are shown (see all 206)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0230574
    Cirrhosis (CIRRH)4--see VAR_0230572 G R mis40--------
    VAR_0230564
    Cirrhosis (CIRRH)4--see VAR_0230562 R Q mis40--------
    rs577585061,2,4
    C,FCirrhosis (CIRRH)4 pathogenic153177393(+) GAGCCA/TTTACT 4 H L mis12Minor allele frequency- T:0.00NA EU 4409
    rs2676076521,2
    Cuntested153178162(+) TCCCTC/GCAGAT 2 -- int10--------
    rs599793661,2
    C,Funtested153178196(+) CCCGCA/GTCGTT 4 I V mis11Minor allele frequency- G:0.00NA 4552
    rs778320701,2
    Cuntested153178237(+) GATGAC/TTTTAG 4 D syn10--------
    rs1430515951,2
    Cuntested153178286(+) GGGGTA/GGAGCT 2 -- int10--------
    rs584724721,2,4
    C,Funtested153179350(+) TGCCAG/CCTCTG 4 /T /S mis12Minor allele frequency- C:0.01NA EU 5845
    rs573546421,2
    untested153179443(+) GGCTCA/GGAAGA 4 Q R mis10--------
    rs591123681,2
    Cuntested153179600(+) CACACA/GGTCTG 4 Q R mis11Minor allele frequency- G:0.00EU 1323

    HapMap Linkage Disequilibrium report for KRT18 (53342655 - 53346685 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for KRT18:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv832416CNV Loss17160897


    Human Gene Mutation Database (HGMD): KRT18
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT18
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT18

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 148070   
    OMIM disorders: 215600  
    UniProtKB/Swiss-Prot: K1C18_HUMAN, P05783
  • Cirrhosis (CIRRH) [MIM:215600]: A liver disease characterized by severe panlobular liver-cell swelling
    with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features
    include abdomen swelling, jaundice and pulmonary hypertension. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 20/124 diseases for KRT18 (see all 124):    About MalaCards
    gallbladder sarcoma    schneiderian carcinoma    placental site trophoblastic tumor    tubular adenocarcinoma
    proliferating trichilemmal cyst    warthin tumor    cirrhosis, noncryptogenic    mammary paget's disease
    pulmonary large cell neuroendocrine carcinoma    microglandular adenosis    neuroendocrine carcinoma    nonalcoholic steatohepatitis
    mucinous tubular and spindle cell carcinoma    lung giant cell carcinoma    botryoid rhabdomyosarcoma    legionnaires' disease
    cavernous hemangioma    pleomorphic carcinoma    thymic carcinoma    cystic teratoma

    3 diseases from the University of Copenhagen DISEASES database for KRT18:
    Fatty liver disease     Carcinoma     Liver disease

    KRT18 for disorders           About GeneDecksing

    10/96 Novoseek inferred disease relationships for KRT18 gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    liver diseases 60.7 23 17971926 (4), 19769633 (3), 17105587 (2), 19587454 (2) (see all 10)
    tumors 59.3 158 19302716 (4), 11014572 (3), 15331168 (3), 16762691 (3) (see all 99)
    carcinoma 59.1 49 19407366 (3), 11787851 (2), 7536188 (2), 11669590 (2) (see all 32)
    epithelial tumor 55.2 3 15102669 (1), 7688814 (1)
    fatty liver 49.8 11 19769633 (3), 19881359 (2), 18852641 (1), 19707105 (1) (see all 5)
    breast carcinoma 49.3 13 9816144 (2), 17545523 (2), 10825002 (1), 18715613 (1) (see all 9)
    carcinoma squamous cell 47.7 24 11038661 (4), 19755983 (2), 1690512 (2), 1374358 (1) (see all 17)
    hepatitis alcoholic 46.5 5 16762691 (2), 15365314 (1), 19769633 (1), 18618253 (1)
    metastasis 46.5 21 19529960 (5), 10825002 (1), 18715613 (1), 19615282 (1) (see all 7)
    breast cancer 41.2 39 10209854 (4), 17545523 (4), 9816144 (2), 15102669 (2) (see all 21)

    Genetic Association Database (GAD): KRT18
    Human Genome Epidemiology (HuGE) Navigator: KRT18 (4 documents)

    Export disorders for KRT18 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KRT18 gene, integrated from 9 sources (see all 836):
    (articles sorted by number of sources associating them with KRT18)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Phosphorylation of human keratin 18 serine 33 regulates binding to 14-3-3 proteins. (PubMed id 9524113)1, 2, 9 Ku N.O.... Omary M.B. (1998)
    2. Caspase cleavage of keratin 18 and reorganization of intermediate filaments during epithelial cell apoptosis. (PubMed id 9298992)1, 2, 9 Caulin C.... Oshima R.G. (1997)
    3. Identification and mutational analysis of the glycosylation sites of human keratin 18. (PubMed id 7538124)1, 2, 9 Ku N.-O. and Omary M.B. (1995)
    4. Identification of the major physiologic phosphorylation site of human keratin 18: potential kinases and a role in filament reorganization. (PubMed id 7523419)1, 2, 9 Ku N.O. and Omary M.B. (1994)
    5. Rescue of DeltaF508-CFTR (cystic fibrosis transmembrane conductance regulator) by curcumin: involvement of the keratin 18 network. (PubMed id 16424149)1, 2, 9 Lipecka J.... Davezac N. (2006)
    6. Global proteomic approach unmasks involvement of keratins 8 and 18 in the delivery of cystic fibrosis transmembrane conductance regulator (CFTR)/deltaF508-CFTR to the plasma membrane. (PubMed id 15529338)1, 2, 9 Davezac N.... Edelman A. (2004)
    7. Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD. (PubMed id 11684708)1, 2, 9 Inada H.... Inagaki M. (2001)
    8. Mutation of human keratin 18 in association with cryptogenic cirrhosis. (PubMed id 9011570)1, 2, 9 Ku N.-O.... Omary M.B. (1997)
    9. Embryonic simple epithelial keratins 8 and 18: chromosomal location emphasizes difference from other keratin pairs. (PubMed id 1705144)1, 3, 9 Waseem A.... Lane E.B. (1990)
    10. Keratin variants predispose to acute liver failure an d adverse outcome: race and ethnic associations. (PubMed id 20538000)1, 4 Strnad P.... M.B. (2010)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3875 HGNC: 6430 AceView: KRT18 Ensembl:ENSG00000111057 euGenes: HUgn3875
    ECgene: KRT18 Kegg: 3875 H-InvDB: KRT18

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KRT18 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KRT18 Genetics and Cytogenetics in Oncology and Haematology
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KRT18 gene:
    Search GeneIP for patents involving KRT18

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



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    About This Section

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