KRT3 Gene (Keratin 3)
Epithelial Keratin Gene Associated with Meesmann Corneal Dystrophy
Gene Information Card
| Symbol | KRT3 |
|---|---|
| Full Name | Keratin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 3850 ncbi.nlm.nih.gov/gene/3850 |
| Ensembl ID | ENSG00000186442 |
| UniProt ID | P12035 |
| OMIM ID | 148043 |
| HGNC ID | 6441 |
| Aliases | K3, CK3, cytokeratin 3 |
Description
KRT3 encodes keratin 3, a type II intermediate filament protein that pairs with keratin 12 to form heterodimers essential for the structural integrity of the corneal epithelium. Mutations in KRT3 cause Meesmann corneal dystrophy, an autosomal dominant disorder characterized by fragility of the anterior corneal epithelium.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meesmann corneal dystrophy (MCD) | Dominant-negative mutations in KRT3 disrupt intermediate filament assembly, leading to epithelial fragility and microcysts. | ClinVar, OMIM |
| Corneal epithelial basement membrane dystrophy | Altered keratin network compromises cell adhesion and barrier function. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cornea | High | Tissue-specific |
| Esophagus | Low | GTEx |
| Skin | Low | GTEx |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Corneal epithelial cells | High | Primary cell type |
| HCE-T (corneal epithelial line) | High | ATCC |
| HaCaT (keratinocyte) | Low | Non-corneal |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Glu509Lys | Missense | Unknown | Dominant-negative; disrupts filament assembly |
| p.Arg503His | Missense | Unknown | Associated with MCD |
| p.Leu468Pro | Missense | Unknown | Severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Not reported; KRT3 null alleles are not associated with disease.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Dominant-negative mutations impair keratin filament formation, causing Meesmann corneal dystrophy.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • intermediate filament (GO:0005882) |
| • keratin filament (GO:0045095) | • epithelial cell differentiation (GO:0030855) |
| • epidermis development (GO:0008544) |
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Keratinization (Reactome: R-HSA-6805567)
Protein Summary
Keratin 3 is a 64 kDa type II keratin expressed specifically in corneal epithelium. It forms obligate heteropolymers with keratin 12. The protein contains a central alpha-helical rod domain flanked by non-helical head and tail domains. Mutations in the rod domain cause Meesmann corneal dystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT35 Knockout HEK293 Cell Line | EDJ-KQ4321 | Human | 3886 | Details Get a Quote |
| KRT3 Knockout HEK293 Cell Line | EDJ-KQ5084 | Human | 3850 | Details Get a Quote |
| KRT31 Knockout HEK293 Cell Line | EDJ-KQ5094 | Human | 3881 | Details Get a Quote |
| KRT32 Knockout HEK293 Cell Line | EDJ-KQ5095 | Human | 3882 | Details Get a Quote |
| KRT33A Knockout HEK293 Cell Line | EDJ-KQ5096 | Human | 3883 | Details Get a Quote |
| KRT38 Knockout HEK293 Cell Line | EDJ-KQ6323 | Human | 8687 | Details Get a Quote |
| KRT37 Knockout HEK293 Cell Line | EDJ-KQ6324 | Human | 8688 | Details Get a Quote |
| KRT39 Knockout HEK293 Cell Line | EDJ-KQ13977 | Human | 390792 | Details Get a Quote |
| KRT32 Knockout HCT 116 Cell Line | EDJ-KQ28043 | Human | 3882 | Details Get a Quote |
| KRT33B Knockout HEK293 Cell Line | EDJ-KQ50413 | Human | 3884 | Details Get a Quote |
| KRT34 Knockout HEK293 Cell Line | EDJ-KQ50414 | Human | 3885 | Details Get a Quote |
| KRT36 Knockout HEK293 Cell Line | EDJ-KQ50815 | Human | 8689 | Details Get a Quote |
| KRT3 Knockout HeLa Cell Line | EDJ-KQ53754 | Human | 3850 | Details Get a Quote |
| KRT31 Knockout HeLa Cell Line | EDJ-KQ53761 | Human | 3881 | Details Get a Quote |
| KRT32 Knockout HeLa Cell Line | EDJ-KQ53762 | Human | 3882 | Details Get a Quote |
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