Gene
krt5
- ID
- ZDB-GENE-991110-23
- Name
- keratin 5
- Symbol
- krt5 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to be a structural constituent of skin epidermis. Acts upstream of or within fin regeneration. Predicted to be located in intermediate filament. Predicted to be active in keratin filament. Is expressed in several structures, including EVL; epidermal cell; integument; oral region; and periderm. Human ortholog(s) of this gene implicated in several diseases, including Dowling-Degos disease; epidermolysis bullosa simplex (multiple); hypotrichosis (multiple); ichthyosis (multiple); and palmoplantar keratosis (multiple). Orthologous to several human genes including KRT5 (keratin 5) and KRT8 (keratin 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 22 figures from 14 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:77647 (7 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Dowling-Degos disease | Alliance | Dowling-Degos disease 1 | 179850 |
| epidermolysis bullosa simplex with mottled pigmentation | Alliance | Epidermolysis bullosa simplex 2F, with mottled pigmentation | 131960 |
| Epidermolysis bullosa simplex 2A, generalized severe | 619555 | ||
| Epidermolysis bullosa simplex 2B, generalized intermediate | 619588 | ||
| Epidermolysis bullosa simplex 2C, localized | 619594 | ||
| Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive | 619599 | ||
| Epidermolysis bullosa simplex 2E, with migratory circinate erythema | 609352 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Intermediate filament protein, conserved site | Intermediate filament, rod domain | Keratin, type II | Keratin type II head |
|---|---|---|---|---|---|
|
UniProtKB:Q6P3K5
|
553 | ||||
|
UniProtKB:A0A8M6YXS6
|
554 | ||||
|
UniProtKB:F1QV31
|
566 |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-krt5 | polyclonal | IgG | Rabbit |
|
Thermo Scientific Pierce Protein Research Products
|
2 |
Plasmids