OTOP1

This gene encodes a transmembrane protein which belongs to the otopetrin domain protein family and is required for the formation of otoconia and otoliths, calcium carbonate biominerals within the inner ear of mammals that are required for the detection of linear acceleration and gravity. This gene modulates purinergic control of intracellular calcium in vestibular supporting cells. Naturally occurring mutations in the orthologous mouse gene are associated with nonsyndromic otoconia agenesis and a consequent balance defect. The orthologous mouse gene is also induced in white adipose tissue during obesity. The encoded protein is a component of a counterinflammatory pathway that attenuates obesity-induced adipose tissue inflammation and plays an adaptive role in maintaining metabolic homeostasis in obesity. [provided by RefSeq, Jul 2017]

Description

Otopetrin 1

Tissue specificity

Not detected

Predicted location

Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Transporters

Chromosome

4 (4188726 - 4226929)

Ensembl ID

ENSG00000163982  (ver. 103.38)

Orthologs

Mouse Otop1: ENSMUSG00000051596

UniProt

Q7RTM1

neXtProt

NX_Q7RTM1

Human splice variants
Mouse splice variants

Protein structure