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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KRTAP1-3
keratin associated protein 1-3
Chromosome 17 · 17q21.2
NCBI Gene: 81850Ensembl: ENSG00000221880.4HGNC: HGNC:16771UniProt: Q8IUG1
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingstructural constituent of skin epidermiscytosolkeratin filamentattention deficit hyperactivity disorderpostmenopausal osteoporosisosteoporosissebaceous of Jadassohn nevus
✦AI Summary

KRTAP1-3 (keratin-associated protein 1-3) is a high-sulfur hair keratin-associated protein encoded on chromosome 17-21 that plays a structural role in hair shaft formation. KRTAP1-3 belongs to a multigene family of hair keratin-associated proteins (KAPs) that form an interfilamentary matrix within the hair cortex 1. These proteins interact closely with hair keratins and are essential for creating a rigid and resistant hair shaft through extensive disulfide bond cross-linking with cysteine-rich hair keratins 2. The KRTAP1-3 gene exhibits size polymorphisms arising from intragenic deletions and duplications of pentapeptide repeats, with both frequent and rare population-specific alleles identified in Caucasian and Japanese populations 2. In situ hybridization studies localize KRTAP1-3 mRNA to the upper cortex of the hair shaft during the anagen phase 1. Clinically, KRTAP1-3 expression is significantly decreased in alopecia areata tissues, particularly in severe subtypes (alopecia totalis and universalis), suggesting its potential role as a biomarker for predicting disease progression with predictive accuracies reaching 93.8% 3. Additionally, KRTAP1-3 was identified as a gene whose expression is promoted during dental pulp cell differentiation in response to osteopontin, though its specific function in this context requires further investigation 4.

Sources cited
1
KRTAP1-3 is part of a 37-gene high/ultrahigh sulfur KAP cluster on chromosome 17q12-21; mRNA localizes to upper cortex of hair shaft
PMID: 11279113
2
KRTAP1-3 (hKAP1.3) exhibits size polymorphisms from intragenic deletions/duplications; represents key member of KAP multigene families involved in hair fiber differentiation
PMID: 12228244
3
KRTAP1-3 expression is significantly decreased in alopecia areata, especially severe subtypes; serves as biomarker for predicting progression to alopecia totalis/universalis
PMID: 34004600
4
KRTAP1-3 gene expression is promoted during dental pulp cell differentiation induced by osteopontin
PMID: 39865657
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
osteoporosisOpen Targets
0.05Suggestive
postmenopausal osteoporosisOpen Targets
0.05Suggestive
sebaceous of Jadassohn nevusOpen Targets
0.05Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.04Suggestive
12q14 microdeletion syndromeOpen Targets
0.04Suggestive
pyknoachondrogenesisOpen Targets
0.04Suggestive
melorheostosisOpen Targets
0.04Suggestive
schizophrenia 15Open Targets
0.04Suggestive
Dacryocystitis - osteopoikilosisOpen Targets
0.04Suggestive
dacryocystitis-osteopoikilosis syndromeOpen Targets
0.04Suggestive
gnathodiaphyseal dysplasiaOpen Targets
0.04Suggestive
epilepsy, progressive myoclonic, 12Open Targets
0.04Suggestive
osteomesopyknosisOpen Targets
0.04Suggestive
Phelan-McDermid syndromeOpen Targets
0.04Suggestive
autosomal recessive hypophosphatemic ricketsOpen Targets
0.03Suggestive
kidney diseaseOpen Targets
0.03Suggestive
X-linked dominant intellectual disability - epilepsy syndromeOpen Targets
0.03Suggestive
Potocki-Lupski syndromeOpen Targets
0.03Suggestive
glycine encephalopathy 1Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KRTAP4-3Protein interaction100%KRTAP3-1Protein interaction88%KRTAP9-9Protein interaction85%KRTAP4-2Protein interaction85%KRTAP4-7Protein interaction85%KRT33BProtein interaction82%
Tissue Expression6 tissues
Heart
0%
Brain
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
KRTAP1-3KRTAP4-3KRTAP3-1KRTAP9-9KRTAP4-2KRTAP4-7KRT33B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IUG1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.25LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.47–1.25]
RankingsWhere KRTAP1-3 stands among ~20K protein-coding genes
  • #17,624of 20,598
    Most Researched8
  • #13,150of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedKRTAP1-3
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Osteopontin Facilitated Dental Pulp Cell Adhesion and Differentiation: A Laboratory Investigation.
PMID: 39865657
ACS Appl Bio Mater · 2025
1.00
2
Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy.
PMID: 30431579
Medicine (Baltimore) · 2018
0.88
3
Prediction of the Risk of Alopecia Areata Progressing to Alopecia Totalis and Alopecia Universalis: Biomarker Development with Bioinformatics Analysis and Machine Learning.
PMID: 34004600
Dermatology · 2022
0.75
4
Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family.
PMID: 12228244
J Biol Chem · 2002
0.63
5
Characterization of a cluster of human high/ultrahigh sulfur keratin-associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21.
PMID: 11279113
J Biol Chem · 2001
0.50