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. [provided by RefSeq, Jul 2017]

Description

Otolin 1

Tissue specificity

Not detected

Predicted location

Secreted in other tissues

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted secreted proteins

Chromosome

3 (161496808 - 161503942)

Ensembl ID

ENSG00000182447  (ver. 103.38)

Orthologs

Mouse Otol1: ENSMUSG00000027788

UniProt

A6NHN0

neXtProt

NX_A6NHN0

Human splice variants
Mouse splice variants

Protein structure