KRT17
Summary: This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
keratin 17 | MIM:148069 | Ensembl:ENSG00000128422 | HGNC:HGNC:6427 | PA30214 | 17q21.2 |
GO terms in KRT17
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | TAS | GO:0005200 | structural constituent of cytoskeleton |
MF | IPI | GO:0005515 | protein binding |
MF | IDA | GO:0032395 | MHC class II receptor activity |
MF | IPI | GO:0042289 | MHC class II protein binding |
BP | IMP | GO:0007165 | signal transduction |
BP | TAS | GO:0008544 | epidermis development |
BP | IEA | GO:0030307 | positive regulation of cell growth |
BP | ISS | GO:0031069 | hair follicle morphogenesis |
BP | TAS | GO:0031424 | keratinization |
BP | IEA | GO:0045109 | intermediate filament organization |
BP | IEA | GO:0045727 | positive regulation of translation |
BP | IEA | GO:0051798 | positive regulation of hair follicle development |
BP | TAS | GO:0070268 | cornification |
CC | TAS | GO:0005829 | cytosol |
CC | IEA | GO:0005882 | intermediate filament |
CC | IDA | GO:0045111 | intermediate filament cytoskeleton |
CC | HDA | GO:0070062 | extracellular exosome |
CC | IEA | GO:0071944 | cell periphery |
Gene expression in normal tissue: KRT17
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KRT17
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 |
pid | reg_gr_pathway | Glucocorticoid receptor regulatory network |
netpath | Pathway_EGFR1 | EGFR1 |
kegg | hsa04915 | Estrogen signaling pathway - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KRT17