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GeneE
4 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.
OTOL1
otolin 1
Chromosome 3 Β· 3q26.1
NCBI Gene: 131149Ensembl: ENSG00000182447.4HGNC: HGNC:34071UniProt: A6NHN0
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
calcium ion bindingextracellular matrix organizationotolith mineralizationprotein homooligomerizationmathematical abilityAbnormality of the skeletal systemexostosisOral ulcer
✦AI Summary

OTOL1 (otolin 1) is a collagen-like scaffold protein specifically expressed in the inner ear that plays a critical role in otoconia formation and biomineralization. The protein functions by sequestering calcium ions and forming interconnecting fibrils that become incorporated into calcium carbonate crystal structures within the saccule and utricle 1. OTOL1 contains a functionally important gC1q domain responsible for trimerization and calcium binding, with natural variants in this domain significantly affecting protein stability and self-association properties 1. Mutations such as R342W induce detrimental aggregation while R402P disables trimerization, potentially compromising otoconia integrity 1. These structural disruptions may pathologically alter the otoconial membrane and impair balance sensation, increasing susceptibility to benign paroxysmal positional vertigo (BPPV) 1. Beyond inner ear function, OTOL1 has been identified as a candidate longevity gene in genome-wide association studies 2 and as a genetic locus associated with anthropometric traits including BMI in Asian populations 3, suggesting broader physiological roles. Additionally, OTOL1 variants contribute to genetic risk scores for obesity, with dietary pattern interactions modulating their phenotypic effects 4.

Sources cited
1
OTOL1 is a scaffold protein of otoconia containing a gC1q domain responsible for trimerization and calcium binding; natural variants affect protein stability, self-association, and calcium sensitivity, with potential to cause pathological changes in otoconia and BPPV
PMID: 34445792
2
OTOL1 was identified as a longevity candidate gene in a genome-wide association study of parental life span
PMID: 27816938
3
OTOL1 locus was replicated as associated with BMI in Asian populations (Filipino cohort)
PMID: 20966902
4
OTOL1 variant SNP was included in genetic risk score calculation for obesity and showed interactive effects with refined carbohydrate dietary patterns
PMID: 41672935
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
mathematical abilityOpen Targets
0.36Weak
Abnormality of the skeletal systemOpen Targets
0.31Weak
exostosisOpen Targets
0.25Weak
Oral ulcerOpen Targets
0.22Weak
mixed connective tissue diseaseOpen Targets
0.18Weak
major depressive disorderOpen Targets
0.16Weak
infectious meningitisOpen Targets
0.15Weak
Genu valgumOpen Targets
0.14Weak
Genu varumOpen Targets
0.14Weak
type 2 diabetes mellitusOpen Targets
0.13Weak
placenta praeviaOpen Targets
0.13Weak
obesityOpen Targets
0.11Weak
smoking initiationOpen Targets
0.08Suggestive
Testicular regression syndromeOpen Targets
0.05Suggestive
uterine fibroidOpen Targets
0.04Suggestive
Uterine leiomyomaOpen Targets
0.04Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.04Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.04Suggestive
46,XX gonadal dysgenesisOpen Targets
0.04Suggestive
caudal duplicationOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
OC90Protein interaction82%OTOGProtein interaction72%KCTD4Shared pathway50%ADAMTSL5Shared pathway50%COL6A5Shared pathway50%COL24A1Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Lung
0%
Ovary
0%
Bone Marrow
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
OTOL1OC90OTOGKCTD4ADAMTSL5COL6A5COL24A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt A6NHN0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.52LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.11 [0.82–1.52]
RankingsWhere OTOL1 stands among ~20K protein-coding genes
  • #13,709of 20,598
    Most Researched22
  • #15,311of 17,882
    Most Constrained (LOEUF)1.52
Genes detectedOTOL1
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Genome-wide Association Study of Parental Life Span.
PMID: 27816938
J Gerontol A Biol Sci Med Sci Β· 2017
1.00
2
Interaction between a refined carbohydrate dietary pattern and genetic risk score for obesity in the Korean population.
PMID: 41672935
Public Health Nutr Β· 2026
0.75
3
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
PMID: 20966902
Obesity (Silver Spring) Β· 2011
0.50
4
Natural Mutations Affect Structure and Function of gC1q Domain of Otolin-1.
PMID: 34445792
Int J Mol Sci Β· 2021
0.25