KRTAP25-1 Gene: Keratin Associated Protein 25-1
A comprehensive biomedical overview of the KRTAP25-1 gene, including genomic context, expression, and clinical relevance.
Gene Information Card
| Symbol | KRTAP25-1 |
|---|---|
| Full Name | Keratin Associated Protein 25-1 |
| Gene Type | protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 100288175 ncbi.nlm.nih.gov/gene/100288175 |
| Ensembl ID | ENSG00000221988 |
| UniProt ID | Q6L8I4 |
| OMIM ID | 616249 |
| HGNC ID | 33867 |
| Aliases | KAP25.1, KRTAP25.1 |
Description
KRTAP25-1 (Keratin Associated Protein 25-1) is a protein-coding gene located on chromosome 21q22.11. It encodes a member of the keratin-associated protein (KAP) family, which are structural proteins that cross-link with keratin intermediate filaments to form the hair shaft. KRTAP25-1 is specifically expressed in the hair cortex and contributes to the mechanical properties and rigidity of hair. The gene is part of a cluster of KAP genes on chromosome 21. While its exact function is not fully characterized, it is believed to play a role in hair fiber formation and integrity. Mutations or altered expression may be associated with hair disorders, though clinical evidence is limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair | Potential involvement in hair shaft structure; exact mechanism not established. | Limited: no direct clinical studies; inferred from KAP family function. |
| Hair shaft disorders | Altered KAP expression may affect hair fiber integrity. | Inferred from related KAP genes; no specific KRTAP25-1 evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Hair | Not available | High (expected, based on KAP family) |
| Skin | Not available | Low (expected) |
| Other tissues | Not available | Not detected (expected) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Keratinocytes | Not available | Expected low expression |
| Hair follicle dermal papilla cells | Not available | Expected high expression (based on KAP family) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No known pathogenic variants | Not applicable | Not reported | No clinical significance established |
Mutation functional classification
Loss of Function (LOF)
No specific loss-of-function mutations reported for KRTAP25-1. Given its structural role, loss of function could potentially affect hair strength, but no clinical evidence exists.
Gain of Function (GOF)
No gain-of-function mutations reported. Overexpression might alter hair properties, but no data available.
Dominant Negative (DN)
No dominant-negative mutations reported. Structural proteins may exhibit dominant effects if mutated, but no evidence for KRTAP25-1.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of skin epidermis | • keratin filament binding |
| • hair follicle development | • intermediate filament organization |
Pathways
• Keratinization
• Formation of the cornified envelope
• Hair follicle development
Protein Summary
The KRTAP25-1 protein is a small, cysteine-rich protein that belongs to the high-sulfur keratin-associated protein family. It is synthesized in the hair cortex and cross-links with keratin intermediate filaments via disulfide bonds, contributing to the rigidity and tensile strength of hair. The protein contains a characteristic cysteine-rich domain that facilitates disulfide bonding. Its precise molecular interactions are not fully characterized, but it is essential for proper hair shaft formation. The protein is encoded by a single exon and is highly expressed in hair follicles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP25-1 Knockout HEK293 Cell Line | EDJ-KQ12131 | Human | 100131902 | Details Get a Quote |
| KRTAP25-1 Knockout HeLa Cell Line | EDJ-KQ60828 | Human | 100131902 | Details Get a Quote |
| KRTAP25-1 Knockout A-549 Cell Line | EDJ-KQ69297 | Human | 100131902 | Details Get a Quote |
| KRTAP25-1 Knockout HCT 116 Cell Line | EDJ-KQ77654 | Human | 100131902 | Details Get a Quote |
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