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Gene Symbol |
KRT18 |
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Aliases |
CK-18, CYK18, K18 |
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Entrez Gene ID |
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Gene Name |
Keratin 18 |
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Chromosomal Location |
12q13.13 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Gene Ontology (GO)
GO ID |
Ontology |
Function |
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:0045104 |
Biological process |
Intermediate filament cytoskeleton organization |
IDA |
20346438 |
GO:0005737 |
Cellular component |
Cytoplasm |
IDA |
16424149, 20346438 |
GO:0005815 |
Cellular component |
Microtubule organizing center |
IDA |
18000879 |
GO:0005882 |
Cellular component |
Intermediate filament |
IDA |
10852826 |
GO:0005913 |
Cellular component |
Cell-cell adherens junction |
HDA |
25468996 |
GO:0034451 |
Cellular component |
Centriolar satellite |
IDA |
18000879 |
GO:0045095 |
Cellular component |
Keratin filament |
IDA |
16424149 |
GO:0070062 |
Cellular component |
Extracellular exosome |
HDA |
19199708 |
GO:0003723 |
Molecular function |
RNA binding |
HDA |
22658674 |
GO:0005515 |
Molecular function |
Protein binding |
IPI |
10852826, 10954706, 11684708, 14756564, 15671067, 15731013, 15846844, 16189514, 19549727, 20035625, 21988832, 23112296, 25416956, 25910212, 26769854, 26871637, 30021884 |
GO:0097110 |
Molecular function |
Scaffold protein binding |
IPI |
10852826 |
GO:0098641 |
Molecular function |
Cadherin binding involved in cell-cell adhesion |
HDA |
25468996 |
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Protein Information |
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Protein Name |
Keratin, type I cytoskeletal 18, cell proliferation-inducing gene 46 protein, cytokeratin 18, keratin 18, type I |
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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. |
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UniProt |
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Pfam |
Pfam Accession |
Pfam ID |
PF00038 |
Filament |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000318820 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Liver Cirrhosis |
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Digestive System Diseases |
Liver Cirrhosis |
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Liver Failure |
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Liver Diseases |
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Liver Fibrosis |
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Hepatitis |
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Endocrine System Diseases |
PCOS |
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Neoplasms |
Liver Cancer |
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Breast Cancer |
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Nutritional and Metabolic Diseases |
Liver Diseases |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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Serum marker for Nonalcoholic steatohepatitis |
Caspase-cleaved CK18 |
PCOS society criteria |
Related
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PCOS may be a risk factor for progressive hepatic sequelae |
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