OTOL1

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.

Otolin 1

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 forms interconnecting fibrils between otoconia that are incorporated into the calcium crystal structure. Together with OC90, modulates calcite crystal morphology and growth kinetics.

Collagen-activated tyrosine kinase receptor signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
Extracellular matrix organizationManual Assertion Based On ExperimentIBA:GO_Central
Otolith mineralizationISS:UniProtKB
Protein homooligomerizationISS:UniProtKB

Secreted, extracellular space, extracellular matrix
Localized in both the surrounding otoconial matrix and otoconia.