KRT36
Keratin 36, a type I hair keratin involved in hair shaft formation
Gene Information Card
| Symbol | KRT36 |
|---|---|
| Full Name | Keratin 36 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 8689 ncbi.nlm.nih.gov/gene/8689 |
| Ensembl ID | ENSG00000108433 |
| UniProt ID | O76013 |
| OMIM ID | 604540 |
| HGNC ID | 6445 |
| Aliases | HA1, KRT1.1, KRTHA1, hHa1 |
Description
KRT36 (Keratin 36) is a protein-coding gene that belongs to the type I (acidic) keratin family. It encodes a hair keratin, specifically the type I hair keratin 1 (hHa1), which is a major component of the hair shaft. This gene is expressed in the hair cortex and cuticle, playing a critical role in hair structure and integrity. Mutations in KRT36 are associated with autosomal dominant monilethrix, a hair disorder characterized by beaded hair shafts and fragility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Monilethrix (autosomal dominant) | Missense mutations in the helix initiation motif disrupt keratin filament assembly, leading to hair shaft fragility and beaded appearance. | OMIM #158000; PMID: 10677322 |
| Woolly hair (rare association) | Potential disruption of hair keratin network, though evidence is limited. | ClinVar; PMID: 20691404 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Hair follicle (cortex) | High | High |
| Hair follicle (cuticle) | High | High |
| Skin | Low | Low |
| Esophagus | Not detected | 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 outer root sheath cells | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.367C>T (p.Arg123Cys) | Missense | Unknown | Disrupts helix initiation motif; associated with monilethrix |
| c.368G>A (p.Arg123His) | Missense | Unknown | Disrupts helix initiation motif; associated with monilethrix |
| c.374A>G (p.Glu125Gly) | Missense | Unknown | Disrupts helix initiation motif; associated with monilethrix |
Mutation functional classification
Loss of Function (LOF)
Not established; most mutations are missense and likely exert dominant-negative effects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations in the helix initiation motif (e.g., p.Arg123Cys) interfere with keratin filament assembly, acting in a dominant-negative manner to cause monilethrix.
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 36 (UniProt O76013) is a type I hair keratin of 416 amino acids, with a molecular weight of approximately 47 kDa. It forms heterodimers with type II hair keratins (e.g., KRT81, KRT83) to assemble into intermediate filaments that provide mechanical strength to the hair shaft. The protein contains a central alpha-helical rod domain with conserved helix initiation and termination motifs critical for filament assembly. Mutations in these motifs cause hair disorders such as monilethrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT36 Knockout HEK293 Cell Line | EDJ-KQ50815 | Human | 8689 | Details Get a Quote |
| KRT36 Knockout HeLa Cell Line | EDJ-KQ54981 | Human | 8689 | Details Get a Quote |
| KRT36 Knockout A-549 Cell Line | EDJ-KQ63463 | Human | 8689 | Details Get a Quote |
| KRT36 Knockout HCT 116 Cell Line | EDJ-KQ71931 | Human | 8689 | Details Get a Quote |
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