KRT8
Summary: This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| keratin 8 | MIM:148060 | Ensembl:ENSG00000170421 | HGNC:HGNC:6446 | PA30234 | 12q13.13 |
Gene Categories:
DRUGGABLE GENOMEGO terms in KRT8
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0005198 | structural molecule activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0044877 | protein-containing complex binding |
| MF | IPI | GO:0097110 | scaffold protein binding |
| CC | HDA | GO:0005634 | nucleus |
| CC | IEA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005882 | intermediate filament |
| CC | IEA | GO:0005911 | cell-cell junction |
| CC | IEA | GO:0016010 | dystrophin-associated glycoprotein complex |
| CC | IEA | GO:0016327 | apicolateral plasma membrane |
| CC | IEA | GO:0016363 | nuclear matrix |
| CC | IEA | GO:0030018 | Z disc |
| CC | IEA | GO:0042383 | sarcolemma |
| CC | IEA | GO:0043034 | costamere |
| CC | IEA | GO:0045095 | keratin filament |
| CC | IDA | GO:0045111 | intermediate filament cytoskeleton |
| CC | HDA | GO:0070062 | extracellular exosome |
| BP | IEA | GO:0016032 | viral process |
| BP | TAS | GO:0031424 | keratinization |
| BP | IEA | GO:0033209 | tumor necrosis factor-mediated signaling pathway |
| BP | IEA | GO:0045214 | sarcomere organization |
| BP | IEA | GO:0051599 | response to hydrostatic pressure |
| BP | IEA | GO:0051707 | response to other organism |
| BP | IEA | GO:0060706 | cell differentiation involved in embryonic placenta development |
| BP | TAS | GO:0070268 | cornification |
| BP | IEA | GO:0097191 | extrinsic apoptotic signaling pathway |
| BP | IEA | GO:0097284 | hepatocyte apoptotic process |
Gene expression in normal tissue: KRT8
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KRT8
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-6805567 | Keratinization |
| reactome | R-HSA-6809371 | Formation of the cornified envelope |
| wikipathways | WP2572 | Primary Focal Segmental Glomerulosclerosis FSGS |
| netpath | Pathway_EGFR1 | EGFR1 |
| pid | p38alphabetadownstreampathway | Signaling mediated by p38-alpha and p38-beta |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KRT8
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