KRT10 (Keratin 10)
Type I Cytoskeletal Keratin, Associated with Epidermal Differentiation and Genetic Skin Disorders
Gene Information Card
| Symbol | KRT10 |
|---|---|
| Full Name | Keratin 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 3858 ncbi.nlm.nih.gov/gene/3858 |
| Ensembl ID | ENSG00000186395 |
| UniProt ID | P13645 |
| OMIM ID | 148080 |
| HGNC ID | 6413 |
| Aliases | K10, CK10, KPP, BCIE, EHK, KRT10A |
Description
KRT10 encodes keratin 10, a type I intermediate filament protein that heteropolymerizes with keratin 1 to form the cytoskeleton of suprabasal keratinocytes. It is essential for maintaining the structural integrity of the epidermis and is specifically expressed in differentiated layers of the skin. Mutations in KRT10 cause epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) and other keratinopathic ichthyoses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epidermolytic hyperkeratosis (EHK) | Dominant-negative mutations disrupt keratin filament assembly, leading to epidermal fragility and hyperkeratosis. | ClinVar, OMIM |
| Ichthyosis hystrix, Curth-Macklin type | Mutations in the helix initiation motif cause abnormal keratin aggregation and severe hyperkeratosis. | OMIM, PubMed |
| Palmoplantar keratoderma | Rare KRT10 mutations can cause localized hyperkeratosis on palms and soles. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 125.3 | High |
| Esophagus | 12.1 | Medium |
| Oral mucosa | 8.5 | Medium |
| Cervix, uterine | 4.2 | Low |
| Vagina | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 98.7 | High expression in differentiated keratinocytes |
| A431 (epidermoid carcinoma) | 45.2 | Moderate expression |
| NHEK (normal human epidermal keratinocytes) | 112.0 | High expression in suprabasal layers |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.467G>A (p.Arg156His) | Missense | Common | Disrupts helix initiation motif; dominant-negative effect |
| c.482T>C (p.Leu161Pro) | Missense | Rare | Alters coiled-coil domain; causes severe EHK |
| c.1436delC (p.Pro479Leufs*5) | Frameshift | Rare | Premature truncation; loss of function in recessive cases |
Mutation functional classification
Loss of Function (LOF)
Rare recessive frameshift or nonsense mutations lead to complete loss of keratin 10, causing mild skin fragility.
Gain of Function (GOF)
Not typically described; most mutations are dominant-negative.
Dominant Negative (DN)
Majority of KRT10 mutations (e.g., missense in helix boundaries) act via dominant-negative interference with filament assembly.
View complete mutation data：
Gene Ontology (GO)
| • intermediate filament cytoskeleton organization | • epidermis development |
| • keratinization | • structural molecule activity |
| • protein heterodimerization activity |
Pathways
• Intermediate filament organization
• Keratinization
• Formation of the cornified envelope
Protein Summary
Keratin 10 is a 58 kDa type I intermediate filament protein expressed in differentiated suprabasal keratinocytes. It forms obligate heteropolymers with keratin 1 (type II) to build a resilient cytoskeletal network that resists mechanical stress. The protein contains a central alpha-helical rod domain flanked by non-helical head and tail regions. Mutations in the rod domain, particularly the helix initiation and termination motifs, disrupt filament assembly and cause epidermal fragility and hyperkeratosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT10 Knockout HEK293 Cell Line | EDJ-KQ5088 | Human | 3858 | 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 |
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