KRTAP19-4: Keratin Associated Protein 19-4
A member of the keratin-associated protein family involved in hair shaft formation and structural integrity.
Gene Information Card
| Symbol | KRTAP19-4 |
|---|---|
| Full Name | Keratin Associated Protein 19-4 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 337972 ncbi.nlm.nih.gov/gene/337972 |
| Ensembl ID | ENSG00000205683 |
| UniProt ID | Q3LI66 |
| OMIM ID | 616258 |
| HGNC ID | 33819 |
| Aliases | KAP19.4, KRTAP19.4 |
Description
KRTAP19-4 encodes a member of the keratin-associated protein (KAP) family, specifically the high-sulfur KAP19 subfamily. These proteins are structural components of the hair shaft, cross-linking with keratin intermediate filaments to provide strength and rigidity. The gene is located on chromosome 21q22.11 and is expressed primarily in hair follicles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair | Altered KAP expression may disrupt hair shaft structure | Limited; inferred from related KAP genes |
| Monilethrix | Potential involvement in hair fragility | Not directly established for KRTAP19-4 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.3 | Low |
| Hair follicle | Not available | Predicted high |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 0.1 | Low expression |
| NHEK (normal human epidermal keratinocytes) | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs143640143 | Missense | <0.01 | Unknown |
| rs376007522 | Missense | <0.01 | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
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 molecule activity (GO:0005198) | • keratin filament (GO:0045095) |
| • epithelial cell differentiation (GO:0030855) |
Pathways
• Keratinization (Reactome: R-HSA-6805567)
• Formation of the cornified envelope (Reactome: R-HSA-6809371)
Protein Summary
KRTAP19-4 is a small, cysteine-rich protein (approximately 8-10 kDa) belonging to the high-sulfur keratin-associated protein family. It cross-links with keratin intermediate filaments in hair cortex cells, contributing to the mechanical resilience and shape of the hair shaft. The protein is encoded by a single exon and lacks enzymatic activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP19-4 Knockout HEK293 Cell Line | EDJ-KQ12063 | Human | 337971 | Details Get a Quote |
| KRTAP19-4 Knockout HeLa Cell Line | EDJ-KQ59593 | Human | 337971 | Details Get a Quote |
| KRTAP19-4 Knockout A-549 Cell Line | EDJ-KQ68058 | Human | 337971 | Details Get a Quote |
| KRTAP19-4 Knockout HCT 116 Cell Line | EDJ-KQ76435 | Human | 337971 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
