KRTAP29-1 Gene - Keratin Associated Protein 29-1
A comprehensive biomedical overview of KRTAP29-1, including genomic context, expression, and clinical relevance.
Gene Information Card
| Symbol | KRTAP29-1 |
|---|---|
| Full Name | Keratin Associated Protein 29-1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 100287171 ncbi.nlm.nih.gov/gene/100287171 |
| Ensembl ID | ENSG00000221968 |
| UniProt ID | Q6L8I4 |
| OMIM ID | 616294 |
| HGNC ID | 34324 |
| Aliases | KRTAP29.1, KAP29.1 |
Description
KRTAP29-1 (Keratin Associated Protein 29-1) is a protein-coding gene located on chromosome 17q21.2. It belongs to the keratin-associated protein (KAP) family, which are structural components of hair and nails. KRTAP29-1 is specifically part of the high-sulfur KAP subfamily, contributing to the rigidity and cross-linking of keratin filaments. The gene is expressed primarily in hair follicles and skin, playing a role in hair shaft formation. Mutations or altered expression may be associated with hair disorders, though clinical significance is still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair | Potential involvement in hair shaft structure; variants may disrupt keratin cross-linking. | Limited evidence; case reports and functional studies suggest a role. |
| Hair shaft abnormalities | Altered KRTAP29-1 expression could affect hair fiber integrity. | Inferred from KAP family function; direct clinical evidence is sparse. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | Not available | Low expression |
| Hair follicle | Not available | High expression (based on RNA-seq data from GTEx and FANTOM5) |
| Esophagus | Not available | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Keratinocytes | Not available | Expressed in skin-derived cell lines |
| HaCaT | Not available | Moderate expression |
| NHEK | Not available | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential impact on protein initiation; functional effect unknown. |
| c.214C>T (p.Arg72Cys) | Missense | Rare | May affect disulfide bonding; clinical significance not established. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in KRTAP29-1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of skin epidermis | • keratin filament binding |
| • protein heterodimerization activity |
Pathways
• Keratinization
• Formation of the cornified envelope
Protein Summary
The KRTAP29-1 protein is a small, cysteine-rich keratin-associated protein. It contains multiple cysteine residues that form disulfide bonds with keratin intermediate filaments, providing mechanical strength to hair and nails. The protein is localized in the hair cortex and cuticle, contributing to the cross-linking of keratin matrices. Its high sulfur content is characteristic of the high-sulfur KAP family. Structural studies suggest a flexible, elongated conformation that facilitates interaction with keratin filaments.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP29-1 Knockout HEK293 Cell Line | EDJ-KQ12102 | Human | 100533177 | Details Get a Quote |
| KRTAP29-1 Knockout HeLa Cell Line | EDJ-KQ60969 | Human | 100533177 | Details Get a Quote |
| KRTAP29-1 Knockout A-549 Cell Line | EDJ-KQ69444 | Human | 100533177 | Details Get a Quote |
| KRTAP29-1 Knockout HCT 116 Cell Line | EDJ-KQ77795 | Human | 100533177 | Details Get a Quote |
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