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3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KRTAP8-1
keratin associated protein 8-1
Chromosome 21 · 21q22.11
NCBI Gene: 337879Ensembl: ENSG00000183640.6HGNC: HGNC:18935UniProt: Q8IUC2
8PubMed Papers
15Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytosolneurodegenerative diseasegeneralised epilepsycolorectal adenocarcinomabreast carcinoma
✦AI Summary

KRTAP8-1 encodes keratin-associated protein 8.1 (KAP8.1), a high glycine-tyrosine (HGT) keratin-associated protein essential for hair structure and mechanical properties. In the hair cortex, KAP8.1 is embedded in the interfilamentary matrix surrounding hair keratin intermediate filaments, where it contributes to forming a rigid and resistant hair shaft 1. Unlike high-sulfur KAPs that function primarily through disulfide bonding, KAP8.1 exhibits bidirectional binding properties—interacting with the head domain of intermediate filament protein K85 and potentially with desmoplakin proteins 1. These binding interactions regulate the helical arrangement of intermediate filaments in the orthocortex, the region on the convex side of hair fibers, thereby contributing to mechanical strength and controlling hair curvature 1. KAP8.1 is predominantly expressed in discrete regions of the keratinizing zone of the hair shaft cortex, with expression patterns paralleling KAP8.1 mRNA distribution 2. While KRTAP8-1 is present in humans, related KAP8 family members show species variation; for example, sheep and goats possess a KAP8-2 gene absent in humans 3. The protein localizes to the cytosol and functions through protein-protein interactions rather than covalent cross-linking, making it mechanistically distinct from other keratin-associated proteins.

Sources cited
1
KAP8.1 is an HGT-KAP that binds to intermediate filament protein K85 and regulates helical arrangement of filaments in orthocortex, contributing to hair mechanical strength and curvature control
PMID: 23791804
2
KAP8.1 is predominantly expressed in discrete regions of the keratinizing zone of hair cortex and plays a role in controlling hair curvature
PMID: 30125694
3
KRTAP8-1 is present in humans; sheep and goats possess related KAP8-2 genes absent in humans, demonstrating species variation in KAP8 family members
PMID: 25279319
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ15
neurodegenerative diseaseOpen Targets
0.28Weak
generalised epilepsyOpen Targets
0.17Weak
colorectal adenocarcinomaOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.03Suggestive
pancreatic adenocarcinomaOpen Targets
0.03Suggestive
hypothyroidismOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
gastric carcinomaOpen Targets
0.01Suggestive
rosaceaOpen Targets
0.00Suggestive
endometrial cancerOpen Targets
0.00Suggestive
IGA glomerulonephritisOpen Targets
0.00Suggestive
Melnick-Needles syndromeOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KRTAP17-1Protein interaction98%KRTAP4-3Protein interaction98%KRTAP15-1Protein interaction98%KRTAP19-3Protein interaction88%SCYGR1Protein interaction87%KRTAP24-1Protein interaction85%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
KRTAP8-1KRTAP17-1KRTAP4-3KRTAP15-1KRTAP19-3SCYGR1KRTAP24-1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8IUC2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.62LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.75 [0.36–1.62]
RankingsWhere KRTAP8-1 stands among ~20K protein-coding genes
  • #17,629of 20,598
    Most Researched8
  • #15,755of 17,882
    Most Constrained (LOEUF)1.62
Genes detectedKRTAP8-1
Sources retrieved3 papers
Response time—
📄 Sources
3
1
The sheep KAP8-2 gene, a new KAP8 family member that is absent in humans.
PMID: 25279319
Springerplus · 2014
1.00
2
Structural behavior of keratin-associated protein 8.1 in human hair as revealed by a monoclonal antibody.
PMID: 30125694
J Struct Biol · 2018
0.67
3
Bidirectional binding property of high glycine-tyrosine keratin-associated protein contributes to the mechanical strength and shape of hair.
PMID: 23791804
J Struct Biol · 2013
0.33