KRTAP1-3: Keratin Associated Protein 1-3
Structural component of hair and nail keratin intermediate filaments
Gene Information Card
| Symbol | KRTAP1-3 |
|---|---|
| Full Name | Keratin Associated Protein 1-3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 83895 ncbi.nlm.nih.gov/gene/83895 |
| Ensembl ID | ENSG00000206195 |
| UniProt ID | Q9BYR8 |
| OMIM ID | 616249 |
| HGNC ID | 18927 |
| Aliases | KAP1.3, KRTAP1.3 |
Description
KRTAP1-3 (Keratin Associated Protein 1-3) is a protein coding gene located on chromosome 17q21.2. It encodes a member of the keratin-associated protein (KAP) family, which are structural components of hair and nail keratin intermediate filaments. These proteins are characterized by high cysteine content and contribute to the rigidity and strength of hair shafts and nails.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair, autosomal recessive 3 | Mutations in KRTAP1-3 disrupt hair shaft structure, leading to abnormal hair texture | PMID: 28492532 |
| Monilethrix | Variants in KRTAP1-3 may contribute to hair fragility and beaded hair appearance | PMID: 29178633 |
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 | Missense | Rare | p.Met1Thr; loss of start codon |
| c.3G>A | Missense | Rare | p.Met1Ile; loss of start codon |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in KRTAP1-3 are associated with woolly hair and hair shaft abnormalities due to disrupted keratin filament assembly.
Gain of Function (GOF)
No gain-of-function mutations have been reported for KRTAP1-3.
Dominant Negative (DN)
Dominant-negative effects have not been described for KRTAP1-3.
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
Keratin-associated protein 1-3 (KAP1.3) is a small, cysteine-rich protein (approximately 8-10 kDa) that crosslinks with keratin intermediate filaments in hair and nail cortex cells. It provides mechanical strength and resistance to proteolysis. The protein is encoded by a single exon and is highly expressed in hair follicles and nail matrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP1-3 Knockout HEK293 Cell Line | EDJ-KQ9774 | Human | 81850 | Details Get a Quote |
| KRTAP1-3 Knockout HeLa Cell Line | EDJ-KQ57420 | Human | 81850 | Details Get a Quote |
| KRTAP1-3 Knockout A-549 Cell Line | EDJ-KQ65925 | Human | 81850 | Details Get a Quote |
| KRTAP1-3 Knockout HCT 116 Cell Line | EDJ-KQ74351 | Human | 81850 | Details Get a Quote |
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