KRTAP21-1: Keratin Associated Protein 21-1
A member of the high-sulfur keratin-associated protein family involved in hair shaft structure
Gene Information Card
| Symbol | KRTAP21-1 |
|---|---|
| Full Name | Keratin Associated Protein 21-1 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 337974 ncbi.nlm.nih.gov/gene/337974 |
| Ensembl ID | ENSG00000186847 |
| UniProt ID | Q3LI66 |
| OMIM ID | 616258 |
| HGNC ID | 23022 |
| Aliases | KAP21.1, KRTAP21.1 |
Description
KRTAP21-1 (Keratin Associated Protein 21-1) is a protein-coding gene located on chromosome 21q22.11. It belongs to the high-sulfur keratin-associated protein (KAP) family, which crosslinks with keratin intermediate filaments to form the rigid hair shaft. KRTAP21-1 is specifically expressed in the hair follicle cortex and contributes to hair fiber strength and structure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair syndrome (hypotrichosis) | Mutations in KRTAP genes disrupt hair shaft formation, leading to fragile, curly hair | PMID: 22995991 |
| Monilethrix | Structural defects in hair keratins and associated proteins cause beaded hair shafts | PMID: 11017019 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Hair follicle | High | High |
| Skin | Low | Low |
| Scalp | Medium | Medium |
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% | Unknown functional effect |
| c.124C>T | Nonsense | <0.01% | Premature stop codon, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein likely cause loss of function, impairing hair shaft integrity.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
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
KRTAP21-1 is a high-sulfur keratin-associated protein (KAP) of approximately 10 kDa. It contains a cysteine-rich domain that forms disulfide bonds with keratin intermediate filaments, providing mechanical strength and rigidity to the hair shaft. The protein is predominantly expressed in the hair follicle cortex and is essential for normal hair structure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP21-1 Knockout HEK293 Cell Line | EDJ-KQ14012 | Human | 337977 | Details Get a Quote |
| KRTAP21-1 Knockout HeLa Cell Line | EDJ-KQ59599 | Human | 337977 | Details Get a Quote |
| KRTAP21-1 Knockout A-549 Cell Line | EDJ-KQ68064 | Human | 337977 | Details Get a Quote |
| KRTAP21-1 Knockout HCT 116 Cell Line | EDJ-KQ76441 | Human | 337977 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
