KRT17 Gene - Keratin 17
Key regulator of epithelial cell growth and inflammatory signaling
Gene Information Card
| Symbol | KRT17 |
|---|---|
| Full Name | Keratin 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 3872 ncbi.nlm.nih.gov/gene/3872 |
| Ensembl ID | ENSG00000128422 |
| UniProt ID | Q04695 |
| OMIM ID | 148069 |
| HGNC ID | 6427 |
| Aliases | CK17, K17, PC2, PCHC1 |
Description
KRT17 encodes keratin 17, a type I intermediate filament protein expressed in epithelial tissues. It plays a critical role in cell growth, wound healing, and inflammatory responses. Mutations in KRT17 are associated with several skin disorders, and its overexpression is linked to various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pachyonychia congenita type 2 | Mutations in KRT17 cause abnormal keratin filament assembly, leading to nail dystrophy and palmoplantar keratoderma. | ClinVar, OMIM |
| Steatocystoma multiplex | Gain-of-function mutations in KRT17 disrupt keratinocyte differentiation, resulting in multiple sebaceous cysts. | ClinVar, OMIM |
| Oral squamous cell carcinoma | Overexpression of KRT17 promotes tumor cell proliferation and invasion. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 245.6 | High |
| Esophagus | 102.3 | Medium |
| Oral mucosa | 89.7 | Medium |
| Lung | 12.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 156.2 | High expression |
| A431 (epidermoid carcinoma) | 134.8 | High expression |
| MCF7 (breast cancer) | 8.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.280C>T (p.Arg94Cys) | Missense | Rare | Disrupts keratin filament assembly; associated with pachyonychia congenita type 2 |
| c.374A>G (p.Asn125Ser) | Missense | Rare | Gain-of-function; linked to steatocystoma multiplex |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of function; severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Rare start-loss and nonsense mutations lead to haploinsufficiency, causing mild epithelial fragility.
Gain of Function (GOF)
Missense mutations (e.g., Asn125Ser) enhance keratin 17 stability and alter cell signaling, promoting cyst formation.
Dominant Negative (DN)
Most missense mutations (e.g., Arg94Cys) act in a dominant-negative manner, disrupting normal keratin network integrity.
View complete mutation data：
Gene Ontology (GO)
| • intermediate filament cytoskeleton organization | • structural molecule activity |
| • cell differentiation | • inflammatory response |
| • wound healing |
Pathways
• Intermediate filament organization
• Keratinization
• IL-17 signaling pathway
Protein Summary
Keratin 17 is a 432-amino acid type I keratin that forms heteropolymers with type II keratins. It is induced in response to injury and inflammation, regulating cell proliferation and migration. Its expression is tightly controlled in normal tissues but upregulated in various cancers, where it contributes to tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT17 Knockout HEK293 Cell Line | EDJ-KQ4317 | Human | 3872 | Details Get a Quote |
| KRT17 Knockout A-549 Cell Line | EDJ-KQ28038 | Human | 3872 | Details Get a Quote |
| KRT17 Knockout HeLa Cell Line | EDJ-KQ28039 | Human | 3872 | Details Get a Quote |
| KRT17 Knockout HCT 116 Cell Line | EDJ-KQ70723 | Human | 3872 | Details Get a Quote |
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