KRTAP22-1 Gene: Keratin Associated Protein 22-1
A comprehensive biomedical overview of KRTAP22-1, including genomic data, expression, and disease associations.
Gene Information Card
| Symbol | KRTAP22-1 |
|---|---|
| Full Name | Keratin Associated Protein 22-1 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 386678 ncbi.nlm.nih.gov/gene/386678 |
| Ensembl ID | ENSG00000206004 |
| UniProt ID | Q3LI64 |
| OMIM ID | 616850 |
| HGNC ID | 33859 |
| Aliases | KRTAP22.1, KAP22.1 |
Description
KRTAP22-1 encodes a keratin-associated protein (KAP) that is a component of the hair fiber. KAPs are structural proteins that cross-link with keratin intermediate filaments to provide strength and rigidity to hair. KRTAP22-1 is part of the high-sulfur KAP family and is expressed primarily in the hair cortex. Its gene is located on chromosome 21q22.11 within a cluster of KAP genes. Mutations or altered expression may affect hair structure, but specific disease associations are limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated disease links in OMIM or ClinVar as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin (including hair follicles) | Not available | Not specified |
| Other tissues | Not available | No data from GTEx or Human Protein Atlas for this gene. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No cell line data | Not available | No expression data in common cell lines. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not applicable | Not reported | No variants in ClinVar or COSMIC. |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations in KRTAP22-1.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of skin epidermis | • keratinization |
| • hair follicle development |
Pathways
• Keratinization (Reactome: R-HSA-6805567)
• Formation of the cornified envelope (Reactome: R-HSA-6809371)
Protein Summary
The KRTAP22-1 protein is a small, cysteine-rich keratin-associated protein. It contains a characteristic KAP domain and is involved in the formation of disulfide bonds with keratin intermediate filaments, contributing to the mechanical strength of hair. The protein is predicted to be localized in the cytoplasm and is expressed in hair follicles. Its precise molecular interactions are not fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP22-1 Knockout HEK293 Cell Line | EDJ-KQ12067 | Human | 337979 | Details Get a Quote |
| KRTAP22-1 Knockout HeLa Cell Line | EDJ-KQ59601 | Human | 337979 | Details Get a Quote |
| KRTAP22-1 Knockout A-549 Cell Line | EDJ-KQ68066 | Human | 337979 | Details Get a Quote |
| KRTAP22-1 Knockout HCT 116 Cell Line | EDJ-KQ76443 | Human | 337979 | Details Get a Quote |
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