KRTAP1-4 (Keratin Associated Protein 1-4): Genetics, Expression, and Disease Relevance
A comprehensive biomedical overview of the KRTAP1-4 gene, including genomic context, expression patterns, and clinical significance.
Gene Information Card
| Symbol | KRTAP1-4 |
|---|---|
| Full Name | Keratin Associated Protein 1-4 |
| Gene Type | protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 83895 ncbi.nlm.nih.gov/gene/83895 |
| Ensembl ID | ENSG00000206183 |
| UniProt ID | Q6L8G4 |
| OMIM ID | 616249 |
| HGNC ID | 24066 |
| Aliases | KAP1.4, KRTAP1.4, KAP1-4 |
Description
KRTAP1-4 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 form the rigid and resistant structure of hair. KRTAP1-4 is part of the high-sulfur KAP family, characterized by a high cysteine content, which contributes to disulfide bond formation and mechanical strength of hair. The gene is located in a cluster of KAP genes on chromosome 17q21.2. Expression is primarily in the hair follicle, and variations may affect hair structure and have been studied in relation to hair disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair | Potential alterations in KRTAP1-4 expression or structure may disrupt hair fiber formation, leading to abnormal hair texture. | Limited evidence; inferred from KAP family function and expression in hair follicles. |
| Hair shaft disorders | Mutations or dysregulation could affect disulfide bonding and hair shaft integrity, contributing to brittle or abnormal hair. | Hypothetical based on protein function; no direct clinical association reported. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | Not detected | Low expression |
| Hair follicle | Not available | High expression (based on RNA and protein studies) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | Not detected | No expression in cultured keratinocytes |
| Primary hair follicle keratinocytes | Not available | Expected expression based on tissue data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs201430560 | missense | 0.1% (global) | Potential impact on protein structure; clinical significance unknown |
| rs148755320 | missense | 0.05% | May affect cysteine content; no known phenotype |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized for KRTAP1-4.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described.
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
• Hair fiber formation
Protein Summary
The KRTAP1-4 protein is a small, cysteine-rich protein (approximately 10 kDa) that belongs to the high-sulfur keratin-associated protein family. It is expressed in the hair cortex and interacts with keratin intermediate filaments via disulfide bonds, contributing to the mechanical rigidity and chemical resistance of hair. The protein contains multiple cysteine residues that form cross-links, and its expression is tightly regulated during hair follicle differentiation. Structural variations in KRTAP1-4 may influence hair texture and strength.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP1-4 Knockout HEK293 Cell Line | EDJ-KQ11379 | Human | 728255 | Details Get a Quote |
| KRTAP1-4 Knockout HeLa Cell Line | EDJ-KQ60696 | Human | 728255 | Details Get a Quote |
| KRTAP1-4 Knockout A-549 Cell Line | EDJ-KQ69168 | Human | 728255 | Details Get a Quote |
| KRTAP1-4 Knockout HCT 116 Cell Line | EDJ-KQ77522 | Human | 728255 | Details Get a Quote |
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