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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KRTAP1-1
keratin associated protein 1-1
Chromosome 17 Β· 17q21.2
NCBI Gene: 81851Ensembl: ENSG00000188581.9HGNC: HGNC:16772UniProt: Q07627
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcytosolkeratin filamentneurodegenerative diseasepostmenopausal osteoporosisosteoporosiskidney disease
✦AI Summary

KRTAP1-1 (keratin-associated protein 1-1) is a structural protein essential for hair shaft formation. In the hair cortex, KRTAP1-1 functions as part of an interfilamentous matrix that embeds hair keratin intermediate filaments, providing rigidity and resistance to the hair shaft through extensive disulfide bond cross-linking with cysteine-rich hair keratins [UniProt annotation]. The protein is expressed in differentiated portions of the hair follicle cortex as a member of the high-sulfur keratin-associated protein 1 family 1. Beyond its classical hair structural role, emerging evidence suggests unexpected functions. A loss-of-function variant (rs3213755) in KRTAP1-1 was significantly associated with remission following SSRI antidepressant treatment in major depressive disorder patients (p=0.00269, OR 1.75 in replication cohort of 553 patients), with expression levels correlating to genotype 2. Additionally, the KRTAP_region_1 (containing KRTAP1-1 genes) on chromosome 17-21 represents a genomic fragility hotspot more prone to DNA breaks than common fragile sites, frequently demarcating ERBB2 amplicons in breast tumors and triggering cancer-associated genome rearrangements 3. These findings suggest KRTAP1-1 has roles extending beyond keratin binding, though mechanisms remain unclear and warrant further investigation.

Sources cited
1
KRTAP1-1 loss-of-function variant rs3213755 associated with antidepressant treatment remission in MDD patients
PMID: 33633223
2
KRTAP_region_1 is a genomically fragile region on 17q12-21 that recurrently demarcates ERBB2 amplicons in breast cancer
PMID: 33290559
3
KRTAP1-1 family members are expressed in differentiated hair follicle cortex and represent high-sulfur keratin-associated proteins
PMID: 11841537
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.23Weak
osteoporosisOpen Targets
0.05Suggestive
postmenopausal osteoporosisOpen Targets
0.05Suggestive
kidney diseaseOpen Targets
0.05Suggestive
sebaceous of Jadassohn nevusOpen Targets
0.05Suggestive
12q14 microdeletion syndromeOpen Targets
0.04Suggestive
pyknoachondrogenesisOpen Targets
0.04Suggestive
melorheostosisOpen Targets
0.04Suggestive
Dacryocystitis - osteopoikilosisOpen Targets
0.04Suggestive
dacryocystitis-osteopoikilosis syndromeOpen Targets
0.04Suggestive
gnathodiaphyseal dysplasiaOpen Targets
0.04Suggestive
osteomesopyknosisOpen Targets
0.04Suggestive
autosomal recessive hypophosphatemic ricketsOpen Targets
0.03Suggestive
thrombotic diseaseOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
metastatic neoplasmOpen Targets
0.01Suggestive
ThrombocytopeniaOpen Targets
0.01Suggestive
colorectal adenocarcinomaOpen Targets
0.01Suggestive
clostridium difficile infectionOpen Targets
0.00Suggestive
ulnar-mammary syndromeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
KRTAP3-1Protein interaction88%KRTAP9-9Protein interaction85%KRTAP4-2Protein interaction85%KRTAP4-7Protein interaction85%KRTAP9-8Protein interaction80%KRTAP1-5Protein interaction80%
Tissue Expression6 tissues
Heart
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Brain
0%
Lung
0%
Gene Interaction Network
Click a node to explore
KRTAP1-1KRTAP3-1KRTAP9-9KRTAP4-2KRTAP4-7KRTAP9-8KRTAP1-5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q07627
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.64 [0.39–1.12]
RankingsWhere KRTAP1-1 stands among ~20K protein-coding genes
  • #17,356of 20,598
    Most Researched9
  • #11,497of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedKRTAP1-1
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Whole-genome sequencing reveals KRTAP1-1 as a novel genetic variant associated with antidepressant treatment outcomes.
PMID: 33633223
Sci Rep Β· 2021
1.00
2
The fragility of a structurally diverse duplication block triggers recurrent genomic amplification.
PMID: 33290559
Nucleic Acids Res Β· 2021
0.67
3
hKAP1.6 and hKAP1.7, two novel human high sulfur keratin-associated proteins are expressed in the hair follicle cortex.
PMID: 11841537
J Invest Dermatol Β· 2002
0.33