KRTAP17-1 Gene - Keratin Associated Protein 17-1
Genetic, structural, and clinical insights into KRTAP17-1, a keratin-associated protein involved in hair shaft formation.
Gene Information Card
| Symbol | KRTAP17-1 |
|---|---|
| Full Name | Keratin Associated Protein 17-1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 83895 ncbi.nlm.nih.gov/gene/83895 |
| Ensembl ID | ENSG00000244462 |
| UniProt ID | Q9BQ66 |
| OMIM ID | 616249 |
| HGNC ID | 18938 |
| Aliases | KAP17.1, KRTAP17.1 |
Description
KRTAP17-1 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 rigidity and strength to hair shafts. KRTAP17-1 is part of the high-sulfur KAP family, characterized by a high cysteine content, which forms disulfide bonds to stabilize the hair structure. The gene is located in a cluster of KAP genes on chromosome 17q21.2, a region known for hair-related traits. Expression is predominantly in the hair follicle cortex, and variations in this gene may influence hair texture and strength.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair | Potential involvement in hair shaft structure; variants may alter disulfide bonding, affecting hair curliness and strength. | Limited evidence; no direct clinical association reported in major databases. |
| Hair shaft disorders | Structural changes in KAP proteins can affect hair fiber integrity, but specific pathogenic variants in KRTAP17-1 are not well-documented. | No confirmed disease association in ClinVar or OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | Not available | Not detected in GTEx (no nTPM data) |
| Hair follicle | Not available | Expected high expression based on gene function, but not quantified in standard datasets. |
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 reported variants | Not applicable | Not available | No pathogenic or common variants documented in ClinVar or COSMIC. |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations in KRTAP17-1; gene is not essential for viability, and no phenotype is observed in model organisms.
Gain of Function (GOF)
No evidence of gain-of-function mutations; gene function is structural, and no activating mutations are known.
Dominant Negative (DN)
No evidence of dominant-negative effects; mutations in KRTAP17-1 are not associated with any dominant disorders.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity | • keratin filament binding |
| • hair follicle development | • intermediate filament organization |
Pathways
• Keratinization
• Formation of the cornified envelope
Protein Summary
The KRTAP17-1 protein is a small, cysteine-rich structural protein (approximately 8 kDa) that belongs to the high-sulfur keratin-associated protein family. It contains multiple cysteine residues that form disulfide bonds with keratin intermediate filaments, contributing to the mechanical strength and rigidity of hair. The protein is synthesized in the hair follicle cortex and incorporated into the hair shaft during differentiation. Its high sulfur content is characteristic of proteins that provide cross-linking in hard keratin structures. The protein is predicted to have a disordered structure, allowing flexible interactions with keratin filaments.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP17-1 Knockout HEK293 Cell Line | EDJ-KQ9931 | Human | 83902 | Details Get a Quote |
| KRTAP17-1 Knockout HeLa Cell Line | EDJ-KQ57508 | Human | 83902 | Details Get a Quote |
| KRTAP17-1 Knockout A-549 Cell Line | EDJ-KQ66011 | Human | 83902 | Details Get a Quote |
| KRTAP17-1 Knockout HCT 116 Cell Line | EDJ-KQ74434 | Human | 83902 | Details Get a Quote |
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