SLC18A3 - solute carrier family 18 member A3 Gene

中文名称：溶质载体家族 18 成员 A3

种属: Homo sapiens

同用名: CMS21; VACHT

基因 ID: 6572 | 基因类型: protein coding

关于 SLC18A3

Cytogenetic location: 10q11.23 Genomic coordinates (GRCh38): 10:49,610,310-49,612,720 (from NCBI)

This gene has 1 transcript (splice variant), 249 orthologues, 3 paralogues and is associated with 3 phenotypes.

功能概要

该基因是囊泡胺转运蛋白家族的成员。编码的跨膜蛋白将乙酰胆碱转运到分泌小泡中，以释放到细胞外空间。乙酰胆碱转运利用由液泡 ATP 酶建立的质子梯度。该基因位于胆碱乙酰转移酶基因的第一个内含子内。[RefSeq 提供，2008 年 7 月]

This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008]

SLC18A3 基因产物(1)

mRNA	Protein	Name
NM_003055.3	NP_003046.2	vesicular acetylcholine transporter

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables acetylcholine:proton antiporter activity	IDA IDA: 通过直接分析推断	8910293	GOA
enables monoamine:proton antiporter activity	IDA IDA: 通过直接分析推断	25355561	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in acetylcholine uptake	IDA IDA: 通过直接分析推断	8910293	GOA
involved in serotonin uptake	IDA IDA: 通过直接分析推断	25355561	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

SLC18A3 蛋白结构

MFS_1

0
100
200
300
400
500
532 a.a.

蛋白主名

其他名称

vesicular acetylcholine transporter

solute carrier family 18 (vesicular acetylcholine transporter), member 3

SLC18A3 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SLC18A3	Q16572	MFF	Homo sapiens	Q9GZY8-5	Validated Y2H	32296183
种属内	SLC18A3	Q16572	CCDC167	Homo sapiens	Q9P0B6	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

SLC18A3 抗体

目录号	产品名	应用	反应物种
HY-P87138	VAChT/SLC18A3 Antibody (YA6831)	IHC-F	Mouse

关联疾病

疾病名称

别名

Myasthenic Syndrome, Congenital, 21, Presynaptic

Congenital Myasthenic Syndrome 21	CMS21
Congenital Myasthenic Syndrome 21, Presynaptic

Presynaptic Congenital Myasthenic Syndromes

Presynaptic Congenital Myasthenic Syndrome

Congenital Myasthenic Syndromes, Presynaptic

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence	Fads
Fetal Akinesia Sequence	FADS1
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia	Pena-Shokeir Syndrome Type 1
Fetal Akinesia Deformation Sequence Syndrome	Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia	Pena-Shokeir Syndrome, Type I
Foetal Akinesia Deformation Sequence Syndrome	Foetal Akinesia Sequence
Fetal Akinesia Deformation Sequence Syndrome 1	Pena-Shokeir Syndrome, Type 1
Pena Shokeir Syndrome, Type 1	Akinesia, Fetal, Deformation Sequence
Akinesia, Fetal, Deformation Sequence, Type 1	Pena-Shokeir Syndrome Type I

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Ulnar Nerve Lesion

Lesion Of Ulnar Nerve	Mononeuritis Ulnar Nerve
Tardy Ulnar Nerve Palsy

Pulmonary Adenocarcinoma In Situ

Bronchioalveolar Carcinoma

Lung Carcinoma In Situ

Myasthenic Syndrome, Congenital, 6, Presynaptic

Familial Infantile Myasthenia	CMS6
Cmsea	Congenital Myasthenic Syndrome 6
Familial Infantile Myasthenia Gravis 2	Fimg2
Myasthenic Syndrome, Congenital, Associated With Episodic Apnea	Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea
Congenital Myasthenic Syndrome Type Ia2, Formerly	Cms1a2, Formerly
Cms Ia2, Formerly	Myasthenia, Familial Infantile, Formerly
Fim, Formerly	Myasthenia Gravis, Familial Infantile, 2, Formerly
Fimg2, Formerly	Cms Ia2
Cms1a2	Congenital Myasthenic Syndrome 6, Presynaptic
Congenital Myasthenic Syndrome Type Ia2	Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea
Fim	Cms1a
Cms-Ea	Cms Ia
Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea	Congenital Myasthenic Syndrome Type 1a
Congenital Myasthenic Syndrome Type Ia	Myasthenic Syndrome, Congenital, Type 6, Presynaptic

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Neurogenic Bladder

Neurogenic Dysfunction Of The Urinary Bladder	Neurogenic Urinary Bladder Disorder
Neuropathic Bladder	Bladder Neurogenic
Urinary Bladder, Neurogenic	Neurogenic Urinary Bladder

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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-RS13045	SLC18A3 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS22033	Slc18a3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	SLC18A3	RGD	RGD:62072
Felis catus	SLC18A3	VGNC	VGNC:82310
Mus musculus	SLC18A3	MGD	MGI:1101061
Macaca mulatta	SLC18A3	VGNC	VGNC:106102
Canis familiaris	SLC18A3	VGNC	VGNC:46257
Bos taurus	SLC18A3	VGNC	VGNC:34707

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