GABBR1 - gamma-aminobutyric acid type B receptor subunit 1 Gene

中文名称：γ-氨基丁酸 B 型受体亚基 1

种属: Homo sapiens

同用名: GB1; GPRC3A; GABABR1; GABBR1-3

基因 ID: 2550 | 基因类型: protein coding

关于 GABBR1

Cytogenetic location: 6p22.1 Genomic coordinates (GRCh38): 6:29,602,238-29,633,183 (from NCBI)

This gene has 20 transcripts (splice variants), 1 gene allele, 266 orthologues and 2 paralogues. Broad expression in brain (RPKM 72.0), spleen (RPKM 14.7) and 15 other tissues.

功能概要

该基因编码 γ-氨基丁酸 (GABA) 受体，GABA 是哺乳动物中枢神经系统中的主要抑制性神经递质。该受体作为 GABA (B) 受体 2 的异二聚体发挥作用。该基因的缺陷可能是精神分裂症和癫痫等脑部疾病的基础。选择性剪接会产生多个转录本变体，但其中一些变体的全长性质尚未确定。[RefSeq 提供，2016 年 1 月]

This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]

GABBR1 基因产物(4)

mRNA	Protein	Name
NM_001319053.2	NP_001305982.1	gamma-aminobutyric acid type B receptor subunit 1 isoform k
NM_001470.4	NP_001461.1	gamma-aminobutyric acid type B receptor subunit 1 isoform a precursor
NM_021903.3	NP_068703.1	gamma-aminobutyric acid type B receptor subunit 1 isoform b precursor
NM_021904.4	NP_068704.2	gamma-aminobutyric acid type B receptor subunit 1 isoform c precursor

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
contributes to G protein-coupled GABA receptor activity	IDA IDA: 通过直接分析推断	9872316	GOA
enables G protein-coupled GABA receptor activity	IDA IDA: 通过直接分析推断	10328880	GOA
enables G protein-coupled GABA receptor activity	IMP IMP: 通过突变表型推断	36103875	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16724110	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA IDA: 通过直接分析推断	987231	GOA
involved in gamma-aminobutyric acid signaling pathway	IDA IDA: 通过直接分析推断	987231	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of G protein-coupled GABA receptor complex	IPI IPI: 通过物理相互作用推断	24305054	GOA
part of G protein-coupled receptor heterodimeric complex	IPI IPI: 通过物理相互作用推断	9872316	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	9872316	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

GABBR1 蛋白结构

Sushi

ANF_receptor

7tm_3

0
200
400
600
800
961 a.a.

蛋白主名

其他名称

gamma-aminobutyric acid type B receptor subunit 1

GABA-B receptor, R1 subunit

GABBR1 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	GABBR1	Q9UBS5	GPR37	Homo sapiens	O15354	Ub Reconstruction	28298427
种属内	GABBR1	Q9UBS5	NCK1	Homo sapiens	P16333	Peptide Array	17474147
种属内	GABBR1	Q9UBS5	NSF	Homo sapiens	P46459	Anti Tag CoIP	16724110
种属内	GABBR1	Q9UBS5	NSF	Homo sapiens	P46459	Pull Down	16724110
种属内	GABBR1	Q9UBS5	NSF	Homo sapiens	P46459	Imaging	16724110
种属内	GABBR1	Q9UBS5	GABBR2	Homo sapiens	O75899	Ub Reconstruction	24658140
种属内	GABBR1	Q9UBS5	GABBR2	Homo sapiens	O75899	Anti Tag CoIP	16724110
种属内	GABBR1	Q9UBS5	MAX	Homo sapiens	P61244	TAP	20195357
种属内	GABBR1	Q9UBS5	MAX	Homo sapiens	P61244	Display Tech	20195357

种属间: 跨种属相互作用 种属内: 同种属相互作用

GABBR1 抗体

目录号	产品名	应用	反应物种
HY-P82673	GABA B Receptor 1 Antibody (YA2418)	WB	Human, Mouse, Rat

关联疾病

疾病名称

别名

Temporal Lobe Epilepsy

Epilepsy, Temporal Lobe

Epilepsy Temporal Lobe

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Tetanus

Lockjaw	Clostridial Tetanus
Infection Due To Clostridium Tetani	Lock-Jaw

Alcohol Dependence

Alcoholism	Alcohol Dependence, Susceptibility To
Alcohol Dependence, Protection Against	Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against
Alcoholism, Susceptibility To	Alcoholic Intoxication, Chronic
Pharyngeal Neoplasms	Chronic Alcoholism
Dipsomania	Alcohol Addiction
Ethanol Dependence	Chronic Ethanolism
Chronic Alcoholic Disease Nos	Alcoholic Disease Nos
Alcoholic

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Narcolepsy

Paroxysmal Sleep	Gelineau Syndrome
Narcoleptic Syndrome	Narcolepsy-Cataplexy Syndrome
Cataplexy And Narcolepsy	Narcolepsy, Without Cataplexy
Gelineau'S Syndrome	Narcolepsy With Or Without Cataplexy
Narcolepsy Nos

Obsessive-Compulsive Disorder

OCD	Obsessive-Compulsive Disorder, Susceptibility To
Anancastic Neurosis	Obsessive Compulsive Disorder
Anankastic Neurosis	Obsessive-Compulsive Neurosis
Obsessive Compulsive Behavior

Status Epilepticus

Grand Mal Status Epilepticus	Grand Mal Status
Gcse	Generalized Convulsive Status Epilepticus
Se	Epilepsy With Status Epilepticus

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy	Janz Syndrome
Jme	Myoclonic Epilepsy, Juvenile, Susceptibility To, 1
EJM	Myoclonic Epilepsy, Juvenile
Petit Mal, Impulsive	Myoclonic Epilepsy, Juvenile 1
Myoclonic Epilepsy, Juvenile, 1	Adolescent Myoclonic Epilepsy
Juvenile Myoclonus Epilepsy	Juvenile Myoclonic Epilepsy 1
EJM1	Petit Mal Impulsive
Susceptibility To Juvenile Myoclonic Epilepsy 1	Myoclonic Epilepsy Juvenile
Epilepsy, Myoclonic, Juvenile	Myoclonic Epilepsy Of Janz
Jme - [Juvenile Myoclonic Epilepsy]

Fragile X Syndrome

FXS	Martin-Bell Syndrome
Fraxa Syndrome	Marker X Syndrome
X-Linked Mental Retardation And Macroorchidism	Fragile X Mental Retardation Syndrome
Fra Syndrome	Mental Retardation, X-Linked, Associated With Marxq28
X-Linked Intellectual Disability And Macroorchidism	Frax Syndrome
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Fragile-X Syndrome
Fraxe Syndrome

Anxiety

Anxiety Disorder	Anxiety Disorders
Anxiety State	Anxieties
Anxiety Neurosis

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy	Generalised Epilepsy
Epilepsy, Generalized	EIG
Ige	Epilepsy, Idiopathic Generalized, Susceptibility To, 1
Epilepsy, Idiopathic Generalized 1	Epilepsy, Idiopathic Generalized, Susceptibility To
Epilepsy, Idiopathic, Generalized	Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Gastroesophageal Reflux

Gastroesophageal Reflux Disease	Gerd
GER	Gastroesophageal Reflux, Pediatric
Acid Reflux	Gastresophageal Reflux
Gastro-Esophageal Reflux	Gerd - Gastro-Esophageal Reflux Disease

Spasticity

Mood Disorder

Mood Disorders

Episodic Mood Disorder

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

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-RS05204	GABBR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	GABBR1	VGNC	VGNC:29187
Mus musculus	GABBR1	MGD	MGI:1860139
Macaca mulatta	GABBR1	VGNC	VGNC:72843
Felis catus	GABBR1	VGNC	VGNC:97441
Rattus norvegicus	GABBR1	RGD	RGD:621537
Canis familiaris	GABBR1	VGNC	VGNC:41048

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