KRTAP1-5: Keratin Associated Protein 1-5
A structural component of hair and nail keratin intermediate filaments
Gene Information Card
| Symbol | KRTAP1-5 |
|---|---|
| Full Name | Keratin Associated Protein 1-5 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 83895 ncbi.nlm.nih.gov/gene/83895 |
| Ensembl ID | ENSG00000206177 |
| UniProt ID | Q9BYR8 |
| OMIM ID | 616249 |
| HGNC ID | 18927 |
| Aliases | KAP1.5, KRTAP1.5, KAP1-5 |
Description
KRTAP1-5 (keratin associated protein 1-5) is a protein-coding gene located on chromosome 17q21.2. It encodes a member of the high-sulfur keratin-associated protein (KAP) family, which are structural components of hair and nail keratin intermediate filaments. These proteins crosslink with hair keratins to provide strength and rigidity to the hair shaft.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair (hypotrichosis) | Mutations in KRTAP1-5 disrupt keratin crosslinking, leading to fragile hair shafts | PMID: 22995991 |
| Monilethrix | Variants in KRTAP1-5 may contribute to beaded hair phenotype | PMID: 22995991 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.0 | Not detected |
| Hair follicle | High | High |
| Nail | High | High |
| Esophagus | 0.0 | Not detected |
| Tongue | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 0.0 | Not expressed |
| HEK293 | 0.0 | Not expressed |
| Hair follicle dermal papilla cells | High | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.68G>A (p.Arg23His) | Missense | Rare | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in KRTAP1-5 are associated with woolly hair and monilethrix due to impaired keratin crosslinking.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Dominant-negative effects have not been described for KRTAP1-5.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • keratin filament (GO:0045095) |
| • epithelial cell differentiation (GO:0030855) |
Pathways
• Keratinization (Reactome: R-HSA-6805567)
• Formation of the cornified envelope (Reactome: R-HSA-6809371)
Protein Summary
KRTAP1-5 is a high-sulfur keratin-associated protein (KAP) that crosslinks with hair keratins to form the rigid structure of hair and nails. It is highly expressed in hair follicles and nail beds. Mutations in this gene are linked to woolly hair and monilethrix, conditions characterized by fragile, beaded hair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP1-5 Knockout HEK293 Cell Line | EDJ-KQ9927 | Human | 83895 | Details Get a Quote |
| KRTAP1-5 Knockout HeLa Cell Line | EDJ-KQ57502 | Human | 83895 | Details Get a Quote |
| KRTAP1-5 Knockout A-549 Cell Line | EDJ-KQ66005 | Human | 83895 | Details Get a Quote |
| KRTAP1-5 Knockout HCT 116 Cell Line | EDJ-KQ74428 | Human | 83895 | Details Get a Quote |
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