KRTAP13-1: Keratin Associated Protein 13-1
A structural component of hair and nail keratin intermediate filaments
Gene Information Card
| Symbol | KRTAP13-1 |
|---|---|
| Full Name | Keratin Associated Protein 13-1 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 337974 ncbi.nlm.nih.gov/gene/337974 |
| Ensembl ID | ENSG00000186847 |
| UniProt ID | Q3LI64 |
| OMIM ID | 616258 |
| HGNC ID | 22919 |
| Aliases | KAP13.1, KRTAP13.1 |
Description
KRTAP13-1 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 21q22.11 and is specifically expressed in the hair follicle and nail bed. KRTAP13-1 contributes to the mechanical strength and rigidity of hair shafts and nails through disulfide cross-linking with keratin filaments.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair syndrome (autosomal recessive) | Loss-of-function mutations in KRTAP13-1 disrupt hair shaft structure, leading to abnormal curling and fragility. | PMID: 25620204 |
| Monilethrix | Mutations in KRTAP13-1 may contribute to beaded hair shaft appearance, though primarily associated with KRT81/KRT86. | PMID: 16965326 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Hair follicle | 12.5 | High |
| Nail bed | 8.3 | Medium |
| Skin | 2.1 | Low |
| Tongue | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 3.2 | Moderate expression |
| NHEK (normal human epidermal keratinocytes) | 1.8 | Low expression |
| A431 (epidermoid carcinoma) | 0.9 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.197G>A (p.Arg66His) | Missense | <0.01% | Alters protein cross-linking capacity |
| c.254delC (p.Pro85Leufs*12) | Frameshift | <0.001% | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or absent KAP13-1 protein, reducing hair shaft integrity.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations may interfere with keratin filament cross-linking in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • keratin filament (GO:0045095) |
| • epithelial cell differentiation (GO:0030855) | • intermediate filament (GO:0005882) |
Pathways
• Keratinization (Reactome: R-HSA-6805567)
• Formation of the cornified envelope (Reactome: R-HSA-6809371)
Protein Summary
KRTAP13-1 encodes a 98-amino acid protein (UniProt Q3LI64) rich in cysteine and proline residues. It belongs to the high-sulfur keratin-associated protein family and localizes to the hair cortex and nail matrix. The protein cross-links with keratin intermediate filaments via disulfide bonds, providing mechanical resilience. Post-translational modifications include phosphorylation and disulfide bridge formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP13-1 Knockout HEK293 Cell Line | EDJ-KQ9736 | Human | 140258 | Details Get a Quote |
| KRTAP13-1 Knockout HeLa Cell Line | EDJ-KQ58427 | Human | 140258 | Details Get a Quote |
| KRTAP13-1 Knockout A-549 Cell Line | EDJ-KQ66916 | Human | 140258 | Details Get a Quote |
| KRTAP13-1 Knockout HCT 116 Cell Line | EDJ-KQ75320 | Human | 140258 | Details Get a Quote |
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