KRT35
Keratin 35: A Type I Hair Keratin Involved in Hair Follicle Structure and Genetic Hair Disorders
Gene Information Card
| Symbol | KRT35 |
|---|---|
| Full Name | Keratin 35 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 3886 ncbi.nlm.nih.gov/gene/3886 |
| Ensembl ID | ENSG00000197079 |
| UniProt ID | Q92764 |
| OMIM ID | 602764 |
| HGNC ID | 6451 |
| Aliases | KRTHA5, Ha5, K35, hHa5 |
Description
KRT35 encodes keratin 35, a type I (acidic) hair keratin that heterodimerizes with type II keratins to form intermediate filaments in the hair shaft. It is specifically expressed in the hair follicle cortex and cuticle, contributing to hair strength and structure. Mutations in KRT35 are associated with autosomal dominant monilethrix, a condition characterized by beaded, fragile hair.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Monilethrix | Dominant-negative mutations in KRT35 disrupt keratin filament assembly, leading to hair shaft fragility and beaded appearance. | ClinVar, OMIM |
| Woolly hair (rare association) | Potential structural defects in hair keratin network; limited evidence. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.0 | Not detected |
| Hair follicle | High (specific) | High |
| Esophagus | 0.0 | Not detected |
| Cervix, uterine | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 0.0 | Not expressed |
| NHEK (normal human epidermal keratinocytes) | 0.0 | Not expressed |
| Hair follicle dermal papilla cells | 0.0 | Not expressed |
| Hair follicle matrix cells | High | Expressed in hair cortex |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.286C>T (p.Arg96Cys) | Missense | Rare | Dominant-negative; associated with monilethrix |
| c.287G>A (p.Arg96His) | Missense | Rare | Dominant-negative; associated with monilethrix |
| c.404T>C (p.Leu135Pro) | Missense | Rare | Dominant-negative; associated with monilethrix |
Mutation functional classification
Loss of Function (LOF)
Not reported; complete loss likely incompatible with hair shaft integrity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Common mechanism in monilethrix; mutant keratin disrupts filament assembly.
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 35 is a 50.6 kDa type I hair keratin composed of 450 amino acids. It contains a central alpha-helical rod domain flanked by non-helical head and tail domains. The protein forms heterodimers with type II hair keratins (e.g., KRT81, KRT86) to build intermediate filaments essential for hair shaft mechanical resilience. Mutations in the rod domain disrupt filament assembly, leading to hair fragility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT35 Knockout HEK293 Cell Line | EDJ-KQ4321 | Human | 3886 | Details Get a Quote |
| KRT35 Knockout HeLa Cell Line | EDJ-KQ53766 | Human | 3886 | Details Get a Quote |
| KRT35 Knockout A-549 Cell Line | EDJ-KQ62245 | Human | 3886 | Details Get a Quote |
| KRT35 Knockout HCT 116 Cell Line | EDJ-KQ70729 | Human | 3886 | Details Get a Quote |
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