KRTAP20-1: Keratin Associated Protein 20-1
A member of the keratin-associated protein family involved in hair shaft formation and structural integrity.
Gene Information Card
| Symbol | KRTAP20-1 |
|---|---|
| Full Name | Keratin Associated Protein 20-1 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 337974 ncbi.nlm.nih.gov/gene/337974 |
| Ensembl ID | ENSG00000205687 |
| UniProt ID | Q3LI66 |
| OMIM ID | 616258 |
| HGNC ID | 33834 |
| Aliases | KAP20.1, KRTAP20.1 |
Description
KRTAP20-1 encodes a keratin-associated protein (KAP) that is a component of the hair fiber. KAPs are structural proteins that crosslink with keratin intermediate filaments to form the rigid hair shaft. This gene is part of a cluster of KAP genes on chromosome 21 and is expressed specifically in the hair cortex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair (hypotrichosis) | Altered KAP expression disrupts hair shaft structure | Limited; indirect evidence from related KAP genes |
| Monilethrix | Potential involvement in hair fragility | Not directly established for KRTAP20-1 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin (scalp) | 0.3 | Low |
| Hair follicle | Not available | Not available |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 0.1 | Low expression |
| NHEK (normal human epidermal keratinocytes) | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon |
| c.124C>T (p.Arg42Cys) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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) |
Pathways
• Keratinization (Reactome: R-HSA-6805567)
• Formation of the cornified envelope (Reactome: R-HSA-6809371)
Protein Summary
KRTAP20-1 is a small, cysteine-rich protein (approximately 8-10 kDa) that belongs to the high-sulfur keratin-associated protein family. It is expressed in the hair cortex and contributes to the mechanical strength and rigidity of hair fibers by crosslinking with keratin intermediate filaments. The protein contains a characteristic cysteine-rich domain that facilitates disulfide bond formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP20-1 Knockout HEK293 Cell Line | EDJ-KQ12124 | Human | 337975 | Details Get a Quote |
| KRTAP20-1 Knockout HeLa Cell Line | EDJ-KQ59597 | Human | 337975 | Details Get a Quote |
| KRTAP20-1 Knockout A-549 Cell Line | EDJ-KQ68062 | Human | 337975 | Details Get a Quote |
| KRTAP20-1 Knockout HCT 116 Cell Line | EDJ-KQ76439 | Human | 337975 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
