KRT1 Gene - Keratin 1
Key structural protein in epidermal differentiation and keratinization disorders
Gene Information Card
| Symbol | KRT1 |
|---|---|
| Full Name | Keratin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 3848 ncbi.nlm.nih.gov/gene/3848 |
| Ensembl ID | ENSG00000167768 |
| UniProt ID | P04264 |
| OMIM ID | 139350 |
| HGNC ID | 6412 |
| Aliases | CK1, EHK, EPPK, K1, KRT1A, NEPPK |
Description
KRT1 encodes keratin 1, a type II cytokeratin that heteropolymerizes with keratin 10 to form intermediate filaments in the suprabasal epidermis. It is essential for maintaining the structural integrity of the skin barrier and is involved in terminal differentiation of keratinocytes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epidermolytic hyperkeratosis (EHK) | Mutations in KRT1 disrupt keratin filament assembly, leading to epidermal fragility and hyperkeratosis. | ClinVar, OMIM |
| Ichthyosis hystrix, Curth-Macklin type | Dominant-negative mutations cause abnormal keratin aggregation and severe hyperkeratosis. | OMIM, PubMed |
| Palmoplantar keratoderma, nonepidermolytic | Mutations in the V1 domain impair filament network, causing focal palmoplantar thickening. | ClinVar, HGNC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 1248.3 | High |
| Esophagus | 89.2 | Medium |
| Oral mucosa | 56.7 | Medium |
| Cervix, uterine | 12.4 | Low |
| Vagina | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 1520.5 | High expression; used in differentiation studies |
| A431 (epidermoid carcinoma) | 980.2 | High expression |
| NHEK (normal human epidermal keratinocytes) | 1345.0 | High expression |
| HeLa | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.596T>C (p.Ile199Thr) | Missense | Rare | Disrupts helix initiation motif; associated with EHK |
| c.1648G>A (p.Glu550Lys) | Missense | Rare | Dominant-negative; ichthyosis hystrix |
| c.1436A>G (p.Asn479Ser) | Missense | Rare | Nonepidermolytic palmoplantar keratoderma |
| c.189C>A (p.Cys63Ter) | Nonsense | Very rare | Loss-of-function; mild phenotype |
Mutation functional classification
Loss of Function (LOF)
Rare; nonsense mutations produce truncated protein with mild or no disease phenotype due to haploinsufficiency.
Gain of Function (GOF)
Not typically described; most pathogenic mutations are dominant-negative.
Dominant Negative (DN)
Common mechanism; missense mutations in helix boundary motifs disrupt filament assembly, causing severe keratinization disorders.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Keratinization (Reactome: R-HSA-6805567)
• Formation of the cornified envelope (Reactome: R-HSA-6809374)
Protein Summary
Keratin 1 is a 644-amino acid type II intermediate filament protein expressed in the suprabasal layers of stratified squamous epithelium. It forms obligate heteropolymers with keratin 10, providing mechanical resilience to keratinocytes. Mutations in the helix initiation and termination motifs cause dominant-negative disruption of filament assembly, leading to epidermolytic hyperkeratosis and related disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT1 Knockout HEK293 Cell Line | EDJ-KQ2825 | Human | 3848 | Details Get a Quote |
| KRT19 Knockout HEK293 Cell Line | EDJ-KQ3214 | Human | 3880 | Details Get a Quote |
| KRT17 Knockout HEK293 Cell Line | EDJ-KQ4317 | Human | 3872 | Details Get a Quote |
| KRT10 Knockout HEK293 Cell Line | EDJ-KQ5088 | Human | 3858 | Details Get a Quote |
| KRT12 Knockout HEK293 Cell Line | EDJ-KQ5089 | Human | 3859 | Details Get a Quote |
| KRT13 Knockout HEK293 Cell Line | EDJ-KQ5090 | Human | 3860 | Details Get a Quote |
| KRT16 Knockout HEK293 Cell Line | EDJ-KQ5091 | Human | 3868 | Details Get a Quote |
| KRT15 Knockout HEK293 Cell Line | EDJ-KQ5093 | Human | 3866 | Details Get a Quote |
| KRT10 Knockout A-549 Cell Line | EDJ-KQ28028 | Human | 3858 | Details Get a Quote |
| KRT10 Knockout HCT 116 Cell Line | EDJ-KQ28029 | Human | 3858 | Details Get a Quote |
| KRT10 Knockout HeLa Cell Line | EDJ-KQ28030 | Human | 3858 | Details Get a Quote |
| KRT13 Knockout HCT 116 Cell Line | EDJ-KQ28035 | Human | 3860 | Details Get a Quote |
| KRT13 Knockout HeLa Cell Line | EDJ-KQ28036 | Human | 3860 | Details Get a Quote |
| KRT16 Knockout HeLa Cell Line | EDJ-KQ28037 | Human | 3868 | Details Get a Quote |
| KRT17 Knockout A-549 Cell Line | EDJ-KQ28038 | Human | 3872 | Details Get a Quote |
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