KRTAP27-1: Keratin Associated Protein 27-1
A member of the keratin-associated protein family involved in hair shaft formation and structural integrity.
Gene Information Card
| Symbol | KRTAP27-1 |
|---|---|
| Full Name | Keratin Associated Protein 27-1 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 100288175 ncbi.nlm.nih.gov/gene/100288175 |
| Ensembl ID | ENSG00000205643 |
| UniProt ID | Q3LHN2 |
| OMIM ID | 620354 |
| HGNC ID | 33802 |
| Aliases | KAP27.1, KRTAP27.1 |
Description
KRTAP27-1 encodes a member of the keratin-associated protein (KAP) family, which are structural proteins that form a matrix around keratin intermediate filaments in hair fibers. This gene is specifically expressed in the hair follicle and contributes to the mechanical properties and rigidity of the hair shaft.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair syndrome (hypotrichosis) | Altered KAP expression may disrupt hair shaft structure | Limited; indirect evidence from related KAP genes |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin (scalp) | 0.5 | Low |
| Hair follicle | Not available | Not available |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 0.2 | Low expression |
| NHEK (normal human epidermal keratinocytes) | 0.1 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • keratin filament (GO:0045095) |
| • keratinization (GO:0031424) |
Pathways
• Keratinization (Reactome: R-HSA-6805567)
• Formation of the cornified envelope (Reactome: R-HSA-6809371)
Protein Summary
KRTAP27-1 is a small, cysteine-rich protein (approximately 10 kDa) that cross-links with keratin intermediate filaments in the hair cortex. It contributes to the mechanical strength and rigidity of hair. The protein is encoded by a single exon and is part of the high-sulfur KAP family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP27-1 Knockout HEK293 Cell Line | EDJ-KQ13264 | Human | 643812 | Details Get a Quote |
| KRTAP27-1 Knockout HeLa Cell Line | EDJ-KQ60552 | Human | 643812 | Details Get a Quote |
| KRTAP27-1 Knockout A-549 Cell Line | EDJ-KQ69023 | Human | 643812 | Details Get a Quote |
| KRTAP27-1 Knockout HCT 116 Cell Line | EDJ-KQ77380 | Human | 643812 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
