OTOP1 - otopetrin 1 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 133060

About OTOP1

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:4,188,726-4,226,929 (from NCBI)

This gene has 1 transcript (splice variant), 205 orthologues and 2 paralogues. Low expression observed in reference dataset.

Summary

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]

OTOP1 Products (1)

mRNA	Protein	Name
NM_177998.3	NP_819056.1	proton channel OTOP1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables proton channel activity	IDA IDA: Inferred from direct assay	29371428	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in proton transmembrane transport	IDA IDA: Inferred from direct assay	29371428	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	36266567	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OTOP1 Protein Structure

Otopetrin

0
100
200
300
400
500
612 a.a.

Protein Preferred Names	Protein Names
proton channel OTOP1

Related Diseases

Diseases	Alias
Bestiality	Zoophilia
Vertigo, Benign Recurrent	Benign Paroxysmal Positional Vertigo Bppv Vestibulopathy, Familial BRV Vertigo, Benign Paroxysmal Positional Benign Paroxysmal Positional Nystagmus Benign Recurrent Vertigo Familial Benign Recurrent Vertigo Familial Vestibulopathy Benign Paroxysmal Nystagmus Bppv - [Benign Positional Paroxysmal Vertigo]
Vestibulocochlear Nerve Disease	Vestibulocochlear Nerve Diseases Acoustic Nerve Disease Cochlear Nerve Diseases Disturbance Of Vestibulocochlear Nerve Auditory Nerve Disorder Disorder Of Acoustovestibular Nerve Disorder Of Eighth Nerve Eighth Cranial Nerve Disorder Disease Of Eighth Cranial Nerve Disease Of Acoustic Nerve Disease Of Auditory Nerve Disorder Of 8th Cranial Nerve Auditory Nerve Lesion Cochlear Nerve Disorder
Vestibular Neuronitis	Vestibular Neuritis Epidemic Neurolabyrinthitis
Corneal Dystrophy And Perceptive Deafness	Corneal Dystrophy-Perceptive Deafness Syndrome CDPD Harboyan Syndrome Cdpd1 Corneal Dystrophy And Sensorineural Deafness Corneal Endothelial Dystrophy And Perceptive Deafness Corneal Dystrophy With Progressive Deafness Congenital Corneal Dystrophy, Progressive Sensorineural Deafness Corneal Dystrophy With Progressive Hearing Loss Corneal Dystrophy-Perceptive Hearing Loss Syndrome Dystrophy, Corneal, Endothelial, And Perceptive Deafness
Spondylometaphyseal Dysplasia, Sedaghatian Type	SMDS Sedaghatian Chondrodysplasia Spondylometaphyseal Dysplasia Sedaghatian Type Congenital Lethal Metaphyseal Chondrodysplasia Metaphyseal Chondrodysplasia, Congenital Lethal Lethal Metaphyseal Dysplasia
Peripheral Vertigo	Vertigo, Peripheral

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-179491	OTOP1-IN-1	Inhibitor	/	Unkown
HY-RS09864	OTOP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	OTOP1	RGD	RGD:631389
Felis catus	OTOP1	VGNC	VGNC:63995
Macaca mulatta	OTOP1	VGNC	VGNC:75653
Canis familiaris	OTOP1	VGNC	VGNC:44179
Mus musculus	OTOP1	MGD	MGI:2388363
Bos taurus	OTOP1	VGNC	VGNC:32488
Others	OTOP1	NCBI