KRTAP15-1: Keratin Associated Protein 15-1
A structural component of hair and nail keratin intermediate filaments
Gene Information Card
| Symbol | KRTAP15-1 |
|---|---|
| Full Name | Keratin Associated Protein 15-1 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 100505746 ncbi.nlm.nih.gov/gene/100505746 |
| Ensembl ID | ENSG00000205643 |
| UniProt ID | Q3LI66 |
| OMIM ID | 616249 |
| HGNC ID | 33899 |
| Aliases | KAP15.1, KRTAP15.1 |
Description
KRTAP15-1 encodes a member of the keratin-associated protein (KAP) family, which are structural proteins that form a matrix surrounding the keratin intermediate filaments in hair and nails. This gene is located on chromosome 21q22.3 and is specifically expressed in the hair follicle and nail bed. The protein product is rich in cysteine and contributes to the mechanical strength and rigidity of hair and nail shafts.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Monilethrix | Altered hair shaft structure due to KRTAP mutations | Limited direct evidence; KRTAP15-1 not yet confirmed in monilethrix but related KRTAP genes implicated |
| Woolly hair syndrome | Potential involvement in hair shaft fragility | No direct association reported for KRTAP15-1 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin (scalp) | 0.5 | Low |
| Hair follicle | Not available | Not available |
| Nail bed | Not available | Not available |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 0.2 | Low expression |
| NHEK (normal human epidermal keratinocytes) | 0.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Predicted benign |
| c.100C>T | Nonsense | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein, potentially disrupting hair shaft integrity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • keratin filament (GO:0045095) |
| • keratinization (GO:0031424) | • intermediate filament (GO:0005882) |
Pathways
• Keratinization (Reactome: R-HSA-6809371)
• Formation of the cornified envelope (Reactome: R-HSA-6809371)
Protein Summary
KRTAP15-1 is a small, cysteine-rich protein (approximately 8 kDa) that crosslinks with keratin intermediate filaments via disulfide bonds. It is a component of the hair and nail matrix, providing mechanical resilience. The protein is encoded by a single exon gene on chromosome 21.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP15-1 Knockout HEK293 Cell Line | EDJ-KQ11781 | Human | 254950 | Details Get a Quote |
| KRTAP15-1 Knockout HeLa Cell Line | EDJ-KQ59265 | Human | 254950 | Details Get a Quote |
| KRTAP15-1 Knockout A-549 Cell Line | EDJ-KQ67732 | Human | 254950 | Details Get a Quote |
| KRTAP15-1 Knockout HCT 116 Cell Line | EDJ-KQ76116 | Human | 254950 | Details Get a Quote |
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