KRT16 Gene: Keratin 16
Key player in epithelial integrity, wound healing, and genetic disorders including pachyonychia congenita.
Gene Information Card
| Symbol | KRT16 |
|---|---|
| Full Name | Keratin 16 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 3868 ncbi.nlm.nih.gov/gene/3868 |
| Ensembl ID | ENSG00000186832 |
| UniProt ID | P08779 |
| OMIM ID | 148067 |
| HGNC ID | 6423 |
| Aliases | CK16, K16, KRT16A, NEPPK |
Description
KRT16 encodes keratin 16, a type I intermediate filament protein expressed in suprabasal keratinocytes of stratified epithelia. It forms heteropolymers with keratin 6 (KRT6A, KRT6B, KRT6C) and is essential for maintaining epithelial structural integrity. KRT16 is rapidly induced upon wounding and in hyperproliferative states such as psoriasis and cancer. Mutations in KRT16 cause pachyonychia congenita type 1 (PC-1) and focal palmoplantar keratoderma (FPPK).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pachyonychia congenita 1 (PC-1) | Missense mutations in the helix initiation or termination domains disrupt keratin filament assembly, leading to fragility of nail bed, palmoplantar epidermis, and oral mucosa. | ClinVar, OMIM #167200 |
| Focal palmoplantar keratoderma (FPPK) | Mutations in the 1A or 2B rod domain impair heterodimerization with KRT6, causing localized hyperkeratosis and blistering on palms and soles. | OMIM #148067, ClinVar |
| Steatocystoma multiplex | Rare missense variants in KRT16 are associated with cyst formation in sebaceous ducts, likely due to altered keratinocyte adhesion. | ClinVar, OMIM #184500 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 78.5 | High |
| Esophagus | 45.2 | Medium |
| Oral mucosa | 62.1 | High |
| Lung | 3.4 | Low |
| Breast | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 89.3 | High expression; used as model for epidermal differentiation |
| A431 (epidermoid carcinoma) | 72.1 | Overexpressed due to hyperproliferative state |
| MCF7 (breast cancer) | 2.5 | Low; not a keratinocyte lineage |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374A>G (p.Asn125Ser) | Missense | Common in PC-1 | Disrupts helix initiation motif; dominant-negative effect |
| c.1406G>A (p.Arg469His) | Missense | Rare in FPPK | Impairs filament elongation |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of function; associated with mild PC phenotype |
Mutation functional classification
Loss of Function (LOF)
Start-loss mutations (e.g., p.Met1Val) reduce protein production, leading to haploinsufficiency and mild epithelial fragility.
Gain of Function (GOF)
Not established for KRT16; most pathogenic mutations are dominant-negative.
Dominant Negative (DN)
Missense mutations in the rod domain (e.g., p.Asn125Ser) produce defective keratins that incorporate into filaments, disrupting network integrity.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of skin epidermis | • intermediate filament organization |
| • keratin filament binding | • response to wounding |
| • epidermis development |
Pathways
• Intermediate filament polymerization
• Keratinization
• Wound healing (KRT16 induction)
Protein Summary
Keratin 16 is a 473-amino-acid type I intermediate filament protein (48.5 kDa) with a central alpha-helical rod domain flanked by non-helical head and tail domains. It heteropolymerizes with type II keratins (KRT6) to form 10-nm filaments that provide mechanical resilience to suprabasal keratinocytes. KRT16 is constitutively expressed in palmoplantar epidermis, nail bed, and oral mucosa, and is induced in hyperproliferative conditions. Mutations in the conserved helix boundaries cause dominant-negative disruption of filament assembly, leading to pachyonychia congenita and focal palmoplantar keratoderma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT16 Knockout HEK293 Cell Line | EDJ-KQ5091 | Human | 3868 | Details Get a Quote |
| KRT16 Knockout HeLa Cell Line | EDJ-KQ28037 | Human | 3868 | Details Get a Quote |
| KRT16 Knockout A-549 Cell Line | EDJ-KQ62238 | Human | 3868 | Details Get a Quote |
| KRT16 Knockout HCT 116 Cell Line | EDJ-KQ70722 | Human | 3868 | Details Get a Quote |
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