KRT5 Gene - Keratin 5
Key player in epidermal integrity and blistering disorders
Gene Information Card
| Symbol | KRT5 |
|---|---|
| Full Name | Keratin 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 3852 ncbi.nlm.nih.gov/gene/3852 |
| Ensembl ID | ENSG00000186081 |
| UniProt ID | P13647 |
| OMIM ID | 148040 |
| HGNC ID | 6442 |
| Aliases | CK5, K5, KRT5A, EBS2, EBS3 |
Description
KRT5 encodes keratin 5, a type II intermediate filament protein that heteropolymerizes with keratin 14 to form the cytoskeleton of basal keratinocytes. This network provides mechanical strength and integrity to the epidermis. Mutations in KRT5 cause epidermolysis bullosa simplex (EBS), a skin fragility disorder characterized by blistering upon minor trauma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epidermolysis bullosa simplex (EBS) | Disruption of keratin filament assembly leads to cytolysis of basal keratinocytes under mechanical stress | ClinVar, OMIM |
| EBS with mottled pigmentation | Specific KRT5 mutations impair filament network, causing blistering and pigmentation changes | OMIM |
| Dowling-Degos disease | Gain-of-function mutations in KRT5 alter melanocyte-keratinocyte interactions, leading to reticulate hyperpigmentation | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 112.8 | High |
| Esophagus | 78.3 | High |
| Breast | 12.1 | Medium |
| Cervix | 10.5 | Medium |
| Prostate | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 145.2 | High expression |
| A431 (epidermoid carcinoma) | 98.7 | High expression |
| MCF7 (breast cancer) | 5.4 | Low expression |
| HeLa (cervical cancer) | 8.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1649delG | Frameshift | Rare | Loss of function; severe EBS |
| p.Arg125Cys | Missense | Common in EBS | Dominant negative; disrupts filament assembly |
| p.Glu477Lys | Missense | Rare | Gain of function; Dowling-Degos disease |
| p.Val186Met | Missense | Rare | Mild EBS phenotype |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations leading to haploinsufficiency; rare in EBS.
Gain of Function (GOF)
Specific missense mutations (e.g., p.Glu477Lys) cause Dowling-Degos disease by altering keratinocyte-melanocyte interaction.
Dominant Negative (DN)
Most common mechanism in EBS; missense mutations in the rod domain (e.g., p.Arg125Cys) disrupt filament polymerization.
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 5 is a 590-amino acid type II intermediate filament protein (58 kDa) expressed in basal keratinocytes. It forms obligate heteropolymers with keratin 14, providing mechanical resilience to the epidermis. The protein contains a central alpha-helical rod domain flanked by non-helical head and tail domains. Mutations in the rod domain are a common cause of epidermolysis bullosa simplex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT5 Knockout HEK293 Cell Line | EDJ-KQ2585 | Human | 3852 | Details Get a Quote |
| KRT5 Knockout A-549 Cell Line | EDJ-KQ23268 | Human | 3852 | Details Get a Quote |
| KRT5 Knockout HCT 116 Cell Line | EDJ-KQ23269 | Human | 3852 | Details Get a Quote |
| KRT5 Knockout HeLa Cell Line | EDJ-KQ23270 | Human | 3852 | Details Get a Quote |
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