| Name | otolin 1 |
| Description | This gene encodes a secreted glycoprotein with a C-terminal complement Cq1-like globular domain that belongs to the C1q/tumor necrosis factor-related protein (CTRP) family. The encoded protein is expressed in the inner ear and forms a multimeric complex called the otoconia, together with cerebellin-1 and otoconin-90, as part of the otoconial membrane. It contains extensive posttranslational modifications including hydroxylated prolines and glycosylated lysines. Naturally occurring mutations in this gene are associated with abnormal otoconia formation and balance deficits resulting from vestibular dysfunction. [provided by RefSeq, Jul 2017] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nOtolin‑1 is a collagen‐like protein that plays a fundamental role in the formation and maintenance of the inner ear’s biomineralized structures—otoliths in fish and otoconia in mammals. Studies in zebrafish have shown that deposition of otolin‑1 in the otolith is critical for normal otolith growth and proper anchoring to the sensory epithelium, suggesting that this protein provides an essential organic scaffold for calcium carbonate deposition."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the molecular level, the function of otolin‑1 is driven by its highly conserved globular C1q‐like domain that mediates trimerization and binds Ca2+ ions. This Ca2+ binding not only stabilizes its secondary structure but also promotes higher‐order oligomerization, a process that appears to be finely tuned in different species. Mutations in key acidic residues within the gC1q domain can disrupt trimer formation or stability, potentially leading to impairments in the biomineralization process and contributing to balance disorders such as benign paroxysmal positional vertigo (BPPV)."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition, emerging research highlights that altered levels of otolin‑1 in body fluids may serve as a circulatory biomarker of otolithic degeneration, with lower vitamin D levels being implicated in its dysregulation and the pathogenesis of inner ear disorders. Intriguingly, population‐based genetic studies have also reported associations of OTOL1 variants with anthropometric traits, although the direct mechanistic links remain to be fully elucidated."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Emi Murayama, Philippe Herbomel, Atsushi Kawakami, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Otolith matrix proteins OMP-1 and Otolin-1 are necessary for normal otolith growth and their correct anchoring onto the sensory maculae."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mech Dev (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mod.2005.03.002"}], "href": "https://doi.org/10.1016/j.mod.2005.03.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15905077"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15905077"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "K Trent Moreland, Mina Hong, Wenfu Lu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "In vitro calcite crystal morphology is modulated by otoconial proteins otolin-1 and otoconin-90."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0095333"}], "href": "https://doi.org/10.1371/journal.pone.0095333"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24748133"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24748133"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Rafał Hołubowicz, Magdalena Wojtas, Michał Taube, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Effect of calcium ions on structure and stability of the C1q-like domain of otolin-1 from human and zebrafish."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS J (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/febs.14308"}], "href": "https://doi.org/10.1111/febs.14308"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29076638"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29076638"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Rafał Hołubowicz, Andrzej Ożyhar, Piotr Dobryszycki "}, {"type": "b", "children": [{"type": "t", "text": "Natural Mutations Affect Structure and Function of gC1q Domain of Otolin-1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms22169085"}], "href": "https://doi.org/10.3390/ijms22169085"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34445792"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34445792"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Rafał Hołubowicz, Andrzej Ożyhar, Piotr Dobryszycki "}, {"type": "b", "children": [{"type": "t", "text": "Molecular mechanism of calcium induced trimerization of C1q-like domain of otolin-1 from human and zebrafish."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-021-92129-8"}], "href": "https://doi.org/10.1038/s41598-021-92129-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34140580"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34140580"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Klaudia Bielak, Rafał Hołubowicz, Anna Zoglowek, et al. "}, {"type": "b", "children": [{"type": "t", "text": "N'-terminal- and Ca"}, {"type": "a", "children": [{"type": "t", "text": "sup"}], "href": "sup"}, {"type": "t", "text": "2+"}, {"type": "a", "children": [{"type": "t", "text": "/sup"}], "href": "/sup"}, {"type": "t", "text": "-induced stabilization of high-order oligomers of full-length Danio rerio and Homo sapiens otolin-1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biol Macromol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ijbiomac.2022.04.088"}], "href": "https://doi.org/10.1016/j.ijbiomac.2022.04.088"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35447266"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35447266"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Damien C Croteau-Chonka, Amanda F Marvelle, Ethan M Lange, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Obesity (Silver Spring) (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/oby.2010.256"}], "href": "https://doi.org/10.1038/oby.2010.256"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20966902"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20966902"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Kourosh Parham, George A Kuchel, Janet E McElhaney, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Relationship Between Blood Levels of Otolin-1 and Vitamin D."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Otol Neurotol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/MAO.0000000000001747"}], "href": "https://doi.org/10.1097/MAO.0000000000001747"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29533337"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29533337"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "D V K Irugu, A Singh, H Yadav, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Serum otolin-1 as a biomarker for benign paroxysmal positional vertigo: a case-control study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Laryngol Otol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1017/S0022215121001274"}], "href": "https://doi.org/10.1017/S0022215121001274"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34137365"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34137365"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Emilio Avallone, Heike Schmitt, Giorgio Lilli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A potential serological biomarker for inner ear pathologies: OTOLIN-1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Otorhinolaryngol Ital (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.14639/0392-100X-N2074"}], "href": "https://doi.org/10.14639/0392-100X-N2074"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36254652"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36254652"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Demet Aygun, Seyma Dumur, Mehmet Nuri Elgormus, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Serum Otoconin-90 and Otolin-1 Concentrations in Benign Paroxysmal Positional Vertigo."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biomolecules (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/biom14101279"}], "href": "https://doi.org/10.3390/biom14101279"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "39456211"}], "href": "https://pubmed.ncbi.nlm.nih.gov/39456211"}]}]}]}
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| Synonyms | C1QTNF16, C1QTNF15 |
| Proteins | OTOL1_HUMAN |
| NCBI Gene ID | 131149 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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OTOL1 has 1,436 functional associations with biological entities spanning 8 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 59 datasets.
Click the + buttons to view associations for OTOL1 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of OTOL1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of OTOL1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of OTOL1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of OTOL1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with OTOL1 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of OTOL1 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of OTOL1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of OTOL1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of OTOL1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing OTOL1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing OTOL1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with OTOL1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with OTOL1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of OTOL1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| COSMIC Cell Line Gene Mutation Profiles | cell lines with OTOL1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by OTOL1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with OTOL1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with OTOL1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at OTOL1 gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of OTOL1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of OTOL1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with OTOL1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of OTOL1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of OTOL1 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of OTOL1 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving OTOL1 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving OTOL1 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing OTOL1 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing OTOL1 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by OTOL1 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by OTOL1 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of OTOL1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of OTOL1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with OTOL1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| GWASdb SNP-Disease Associations | diseases associated with OTOL1 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with OTOL1 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of OTOL1 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by OTOL1 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for OTOL1 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of OTOL1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of OTOL1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of OTOL1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of OTOL1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of OTOL1 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain OTOL1 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by OTOL1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MiRTarBase microRNA Targets | microRNAs targeting OTOL1 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of OTOL1 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| NURSA Protein Complexes | protein complexs containing OTOL1 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of OTOL1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of OTOL1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at OTOL1 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of OTOL1 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of OTOL1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of OTOL1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of OTOL1 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of OTOL1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with OTOL1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with OTOL1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
