OTOL1 (otolin 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 131149
Gene name Otolin 1
Gene symbol OTOL1
Synonyms (NCBI Gene)
C1QTNF15C1QTNF16
Chromosome 3
Chromosome location 3q26.1
Summary 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 c
miRNA miRNA information provided by mirtarbase database.
1
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miRTarBase ID miRNA Experiments Reference
MIRT051102 hsa-miR-16-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10 Show/Hide all (10)
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GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005509 Function Calcium ion binding ISS
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region ISS
GO:0005581 Component Collagen trimer IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NHN0
Protein name Otolin-1
Protein function Collagen-like protein specifically expressed in the inner ear, which provides an organic scaffold for otoconia, a calcium carbonate structure in the saccule and utricle of the ear. Acts as a scaffold for biomineralization: sequesters calcium and
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00386 C1q 344 → 467 C1q domain Domain
PF01391 Collagen 278 → 339 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 107 → 161 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 140 → 202 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 233 → 303 Collagen triple helix repeat (20 copies) Repeat
Sequence 
MWMFSWLCAILIILAIAGMNTIAKTTPHTKFTKKSEEREMPKGLKPSSGPPPEEEETLFT
EMAEMAEPITKPSALDSVFGTATLSPFENFTLDPADFFLNCCDCCSPVPGQKGEPGETGQ
PGPKGEAGNLGIPGPPGVVGPQGPRGYKGEKGLKGERGDQGVPGYPGKPGAQGEPGPKGD
KGNIGLGGVKGQKGSKGDTCGNCTKGEKGDQGAMGSPGLHGGPGAKGEKGEMGEKGEMGD
KGCCGDSGERGGKGQKGEGGMKGEKGSKGDSGMEGKSGRNGLPGAKGDPGIKGEKGELGP
PGLLGPTGPKGDIGNKGVRGPTGKKGSRGFKGSKGELARVPRSAFSAGLSKPFPPPNIPI
KFEKILYNDQGNYSPVTGKFNCSIPGTYVFSYHITVRGRPARISLVAQNKKQFKSRETLY
GQEIDQASLLVILKLSAGDQVWLEVSKDWNGVYVSAEDDSIFTGFLLYPEETSGISP
Sequence length 477
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (18)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 36738287, 40708016
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 36738649
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BURKITTS LYMPHOMA — GWAS catalog 40646133
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE — GWAS catalog 21626137
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA — GWAS catalog 40708016
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Meniere Disease Meniere disease Pubtator 36254652 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
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KLF13 2 shared diseasesGlomerulonephritis, Eosinophilia 2 shared evidence sourcesGWAS catalog (Eosinophilia), GWAS catalog (Glomerulonephritis) Related via 2 shared diseases including Glomerulonephritis, Eosinophilia — evidence mostly GWAS catalog. CCT6B 2 shared diseasesBurkitt lymphoma, Glomerulonephritis 1 shared evidence sourceGWAS catalog (Glomerulonephritis) Related via 2 shared diseases including Burkitt lymphoma, Glomerulonephritis — evidence mostly GWAS catalog. ACAP2 1 shared diseaseGlomerulonephritis 2 shared evidence sourcesGWAS catalog (Kidney disease), GWAS catalog (Glomerulonephritis) Related via 1 shared disease including Glomerulonephritis — evidence mostly GWAS catalog. NRXN1 2 shared diseasesGlomerulonephritis, Eosinophilia 2 shared evidence sourcesGWAS catalog (Eosinophilia), GWAS catalog (Glomerulonephritis) Related via 2 shared diseases including Glomerulonephritis, Eosinophilia — evidence mostly GWAS catalog. PCSK2 1 shared diseaseEosinophilia 2 shared evidence sourcesGWAS catalog (Kidney disease), GWAS catalog (Eosinophilia) Related via 1 shared disease including Eosinophilia — evidence mostly GWAS catalog.
Myocardial infarction Linked via 3 of 5 related genesKLF13, NRXN1, PCSK2 Insomnia Linked via 3 of 5 related genesCCT6B, NRXN1, PCSK2 Color vision deficiency Linked via 2 of 5 related genesKLF13, NRXN1 Glioma Linked via 2 of 5 related genesCCT6B, NRXN1 Obesity Linked via 2 of 5 related genesNRXN1, PCSK2