KRT18

Gene Information
 
Gene Symbol
KRT18
 
Aliases
CK-18, CYK18, K18
 
Entrez Gene ID
 
Gene Name
Keratin 18
 
Chromosomal Location
12q13
 
HGNC ID
 
Summary
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 ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0009653 Biological process Anatomical structure morphogenesis TAS 2434380
GO:0043000 Biological process Golgi to plasma membrane CFTR protein transport IDA 15529338
GO:0043066 Biological process Negative regulation of apoptotic process IDA 11684708
GO:0005815 Cellular component Microtubule organizing center IDA 18000879
GO:0005882 Cellular component Intermediate filament IDA 10852826
Protein Information
 
Protein Name
Keratin, type I cytoskeletal 18
 
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
 
Refseq Proteins
 
UniProt
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00038 Filament Intermediate filament protein
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Nonalcoholic steatohepatitis 19906783
   
References
 
Primary:

Apoptotic markers indicate nonalcoholic steatohepatitis in polycystic ovary syndrome.

Tan Susanne, Bechmann Lars P, Benson Sven, Dietz Tiina, Eichner Stefanie, Hahn Susanne, Janssen Onno E, Lahner Harald, Gerken Guido, Mann Klaus, Canbay Ali
Department of Endocrinology and Division of Laboratory Research, University of Duisburg-Essen, 45122 Essen, Germany.
J Clin Endocrinol Metab. 2010 Jan;95(1):343-8. doi: 10.1210/jc.2009-1834. Epub
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Serum marker for Nonalcoholic steatohepatitis 
Caspase-cleaved CK18 
PCOS society criteria 
Related 
 
PCOS may be a risk factor for progressive hepatic sequelae 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
23721173, PMC3681627
Molecular signature of adipose tissue in patients with both non-alcoholic fatty liver disease (NAFLD) and polycystic ovarian syndrome (PCOS). 
Clinical study 

 

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