OTOP1 - otopetrin 1 Gene

中文名称：奥托佩林 1

种属: Homo sapiens

基因 ID: 133060 | 基因类型: protein coding

关于 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.

功能概要

该基因编码属于 otopetrin 域蛋白家族的跨膜蛋白，是形成耳石和耳石所必需的，哺乳动物内耳中的碳酸钙生物矿物质是检测线性加速度和重力所必需的。该基因调节前庭支持细胞中细胞内钙的嘌呤能控制。直系同源小鼠基因中自然发生的突变与非综合征性耳石发育不全和随之而来的平衡缺陷有关。同源小鼠基因也在肥胖期间在白色脂肪组织中被诱导。编码的蛋白质是消炎途径的一个组成部分，可减轻肥胖引起的脂肪组织炎症，并在维持肥胖的代谢稳态中发挥适应性作用。[RefSeq 提供，2017 年 7 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables proton channel activity	IDA IDA: 通过直接分析推断	29371428	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in proton transmembrane transport	IDA IDA: 通过直接分析推断	29371428	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in plasma membrane	IDA IDA: 通过直接分析推断	36266567	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

OTOP1 蛋白结构

Otopetrin

0
100
200
300
400
500
612 a.a.

蛋白主名

其他名称

proton channel OTOP1

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS09864	OTOP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4