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KRT18 Gene

protein-coding   GIFtS: 71
GCID: GC12P053343

Keratin 18

  See KRT18-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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 proliferating trichilemmal cyst, and gallbladder sarcoma. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRT18 gene promoter:
         STAT3   GATA-1   
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: 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
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: 

  • Phosphorylation at Ser-34 increases during mitosis. Hyperphosphorylated at Ser-53 in diseased cirrhosis liver.
    Phosphorylation increases by IL-61
  • Proteolytically cleaved by caspases during epithelial cell apoptosis. Cleavage occurs at Asp-238 by either
    caspase-3, caspase-6 or caspase-71
  • O-GlcNAcylation increases solubility, and decreases stability by inducing proteasomal degradation1
  • Ubiquitination2 at Lys81, Lys131, Lys167, Lys247
  • Modification sites at PhosphoSitePlus

  • See KRT18 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000447278   ENSP00000373487   ENSP00000373489  

    KRT18 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for KRT18

     
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    antibodies-online proteins for KRT18 (49 products) 

     
    antibodies-online peptides for KRT18

    KRT18 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of KRT18
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    Abcam antibodies for KRT18 (P13647, Q3SY84, P08727, P48666, P05787, P05783, P02538, Q9C075)
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    antibodies-online antibodies for KRT18 (486 products) 

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    antibodies-online kits for KRT18 (33 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    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 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


    Find genes that share domains with KRT18           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: 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): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding IPI10852826
    GO:0044822poly(A) RNA binding IDA--
    GO:0097110scaffold protein binding IPI10852826
         
    Find genes that share ontologies with KRT18           About GenesLikeMe


    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/body  liver/biliary system  mortality/aging 

    Find genes that share phenotypes with KRT18           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Krt18tm1Tmm for KRT18

       genOway: Develop your customized and physiologically relevant rodent model for KRT18

    miRNA
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    miRTarBase miRNAs that target KRT18:
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    Sino Biological Human cDNA Clone for KRT18
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    (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
    K1C18_HUMAN, P05783: Cytoplasm, perinuclear region. Nucleus, nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol3
    extracellular2
    mitochondrion2
    endoplasmic reticulum1
    plasma membrane1

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

    Find genes that share ontologies with KRT18           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for 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
    2ERK Signaling
    ILK Signaling0.49
    3Apoptosis and survival Caspase cascade
    Caspase cascade in apoptosis0.42
    4EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway
    5Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments


    Find genes that share SuperPaths with KRT18           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe 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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including KRT18: 
              Cell Surface Markers in human mouse rat
              Breast Cancer in human mouse rat
              Apoptosis 384HT in human mouse rat
              Hepatotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KRT18

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

    Selected Interacting proteins for KRT18 (P057831, 2, 3 ENSP000003734874) via UniProtKB, MINT, STRING, and/or I2D (see all 181)
    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): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process ----
    GO:0007049cell cycle IEA--
    GO:0009653anatomical structure morphogenesis TAS2434380
    GO:0016032viral process IEA--
    GO:0019048modulation by virus of host morphology or physiology ----

    Find genes that share ontologies with KRT18           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KRT18 (K1C18)

    Selected 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)



    Find genes that share compounds with KRT18           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for 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)

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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 

    Selected 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 

    Selected AceView cDNA sequences (see all 3236):

    BI869576 BG120939 BQ230386 BU191331 BQ688931 BM553099 CB121206 CB122831 
    BQ892898 BE538505 BI869261 BF912736 BU543876 BU145684 BM663589 BQ897529 
    BG831156 CB132802 BQ944017 BP356216 BQ684909 BU859897 BU957217 BU185204 

    GeneLoc Exon Structure

    Selected 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™, 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)
    About This Section

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    KRT18 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 34) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 4 entries
             Hepatocytes Liver Lobule
             Hepatocyte-like cells
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Ureteric Bud Cells Ureteric Bud
             Renal Collecting Duct System
             Tubular cell-enriched subpopulation of renal cells
     
     Epidermis (Integumentary System)    fully expand to see all 8 entries
             Surface Ectoderm Cells Surface Ectoderm
             Keratinocytes-like cells
     
     Ectoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Surface Ectoderm Cells Surface Ectoderm
             Activin-induced cells
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 2 entries
             Trophoblast Cells Trophoblast
    KRT18 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT18 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including KRT18: 
              Cell Surface Markers in human mouse rat
              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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KRT18 gene from Selected species (see all 12)    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 
    chicken
    (Gallus gallus)
    Aves KRT186
    keratin 18
    42(a)
    1 ↔ 1
    AADN03018053.1(21-1915)
    lizard
    (Anolis carolinensis)
    Reptilia KRT186
    keratin 18
    64(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)
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    Paralogs for KRT18 gene
    BFSP22  KRT232  
    Selected 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

    Find genes that share paralogs with KRT18           About GenesLikeMe


    Selected 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), 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 KRT18 (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
    ----------
    rs577585061,2,,4
    C,FCirrhosis (CIRRH)4 pathogenic153177393(+) GAGCCA/TTTACT 4 H L mis12Minor allele frequency- T:0.00NA EU 4409
    VAR_0230574
    Cirrhosis (CIRRH)4--see VAR_0230572 G R mis40--------
    VAR_0230564
    Cirrhosis (CIRRH)4--see VAR_0230562 R Q mis40--------
    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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for KRT18 (see all 22):    
    About MalaCards
    proliferating trichilemmal cyst    gallbladder sarcoma    cirrhosis, cryptogenic    mucinous tubular and spindle cell carcinoma
    cirrhosis, noncryptogenic    large cell neuroendocrine carcinoma    microglandular adenosis    tubular adenocarcinoma
    villous adenoma    mammary paget's disease    placental site trophoblastic tumor    pulmonary large cell neuroendocrine carcinoma
    epithelioid trophoblastic tumor    spindle cell carcinoma    lung giant cell carcinoma    botryoid rhabdomyosarcoma
    neuroendocrine carcinoma    pleomorphic carcinoma    nonalcoholic steatohepatitis    cavernous hemangioma

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

    Find genes that share disorders with KRT18           About GenesLikeMe

    Selected 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)
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    PubMed articles for KRT18 gene, integrated from 10 sources (see all 844):
    (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. (EMBO J. 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. (J. Cell Biol. 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. (J. Biol. Chem. 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. (J. Cell Biol. 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. (J. Pharmacol. Exp. Ther. 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. (Proteomics 2004)
    7. Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD. (PubMed id 11684708)1, 2, 9 Inada H.... Inagaki M. (J. Cell Biol. 2001)
    8. Mutation of human keratin 18 in association with cryptogenic cirrhosis. (PubMed id 9011570)1, 2, 9 Ku N.-O.... Omary M.B. (J. Clin. Invest. 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. (New Biol. 1990)
    10. Keratin variants predispose to acute liver failure and adverse outcome: race and ethnic associations. (PubMed id 20538000)1, 4 Strnad P....Omary M.B. (Gastroenterology 2010)

    (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: 3875 HGNC: 6430 AceView: KRT18 Ensembl:ENSG00000111057 euGenes: HUgn3875
    ECgene: KRT18 Kegg: 3875 H-InvDB: KRT18

    (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 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.)
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    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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