OTOL1 (otolin 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
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
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
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.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
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
PF01391 Collagen 278 → 339 Collagen triple helix repeat (20 copies) Repeat
PF00386 C1q 344 → 467 C1q domain Domain
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.).
19
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (19)
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.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BURKITTS LYMPHOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Benign Paroxysmal Positional Vertigo Associate 34445792
★★★★★
★☆☆☆☆
Found in Text Mining only
Hearing Loss Sudden Stimulate 36254652
★★★★★
★☆☆☆☆
Found in Text Mining only
Labyrinth Diseases Associate 36254652
★★★★★
★☆☆☆☆
Found in Text Mining only
Meniere Disease Stimulate 36254652
★★★★★
★☆☆☆☆
Found in Text Mining only