OTOP1 - otopetrin 1 Gene

Homo sapiens

Gene ID: 133060 | Gene type: protein coding

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	Reference	Source
enables proton channel activity	IDA IDA: Inferred from direct assay	29371428	GOA

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

Cellular Component GO Annotation	Evidence	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09864	OTOP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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