2. Gene
  3. GABRB1 - gamma-aminobutyric acid type A receptor subunit beta1 Gene

GABRB1 - gamma-aminobutyric acid type A receptor subunit beta1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：γ-氨基丁酸 A 型受体亚基 beta1

种属: Homo sapiens

同用名: DEE45; EIEE45

基因 ID: 2560 | 基因类型: protein coding

关于 GABRB1

Cytogenetic location: 4p12 Genomic coordinates (GRCh38): 4:46,993,647-47,426,447 (from NCBI)

This gene has 5 transcripts (splice variants), 102 orthologues, 45 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 8.6) and heart (RPKM 0.4).

功能概要

γ-氨基丁酸 (GABA) A 受体是一种多亚基氯离子通道，可介导中枢神经系统中最快的抑制性突触传递。该基因编码 GABA A 受体，β 1 亚基。它被映射到由编码 GABA A 受体的 alpha 4、alpha 2 和 gamma 1 亚基的基因组成的簇中的染色体 4p12。该基因的改变与精神分裂症的发病机制有关。[RefSeq 提供，2008 年 7 月]

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit Chloride Channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]

GABRB1 基因产物(1)

mRNA Protein Name
NM_000812.4 NP_000803.2 gamma-aminobutyric acid receptor subunit beta-1 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
enables GABA-A receptor activity IDA
IDA: 通过直接分析推断
16412217 GOA
enables GABA-gated chloride ion channel activity IDA
IDA: 通过直接分析推断
2538761 GOA
enables GABA-gated chloride ion channel activity IMP
IMP: 通过突变表型推断
26950270 GOA
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IDA
IDA: 通过直接分析推断
26950270 GOA
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IMP
IMP: 通过突变表型推断
26950270 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chloride transmembrane transport IDA
IDA: 通过直接分析推断
9039914 GOA
involved in gamma-aminobutyric acid signaling pathway IMP
IMP: 通过突变表型推断
26950270 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of GABA-A receptor complex IDA
IDA: 通过直接分析推断
9039914 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
26950270 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

GABRB1 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (39 - 242)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (250 - 469)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 474 a.a.
蛋白主名 其他名称

gamma-aminobutyric acid receptor subunit beta-1

gamma-aminobutyric acid (GABA) A receptor, beta 1

GABRB1 抗体

目录号 产品名 应用 反应物种
HY-P82516 GABA A Receptor beta 1 Antibody (YA2261) WB Human, Mouse, Rat

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 45

DEE45

Epileptic Encephalopathy, Early Infantile, 45

Eiee45

Developmental And Epileptic Encephalopathy, 45

Early Infantile Epileptic Encephalopathy 45
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Trichothiodystrophy 2, Photosensitive

TTD2

Photosensitive Trichothiodystrophy 2
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
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2
Substance Dependence
Lennox-Gastaut Syndrome

Lennox Syndrome

Encephalopathy Of Childhood

Epileptic Encephalopathy Lennox-Gastaut Type

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs
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]
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy

Severe Myoclonic Epilepsy In Infancy

Smei

Epileptic Encephalopathy, Early Infantile, 6

DRVT

Developmental And Epileptic Encephalopathy 6a

Dee6a

Eiee6

Developmental And Epileptic Encephalopathy, 6

Dee6

Developmental And Epileptic Encephalopathy 6

Early Infantile Epileptic Encephalopathy 6

Myoclonic Epilepsy, Severe, Of Infancy

Sme

Severe Myoclonus Epilepsy Of Infancy

Borderline Smei

Smeb

Smeb-M

Smeb-O

Smeb-Sw

Smei-Borderland

Smei-Borderland More Than One Feature

Smei-Borderland-Myoclonic Seizures

Smei-Borderland-Spike Wave

Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

ICEGTC

Infantile Severe Myoclonic Epilepsy

Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Generalized Epilepsy With Febrile Seizures Plus

Gefs+

Genetic Epilepsy With Febrile Seizures Plus

Generalized Epilepsy With Febrile Seizures-Plus

Genetic Epilepsy With Febrile Seizures-Plus

Epilepsy, Generalized, With Febrile Seizures Plus
Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05215 GABRB1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus GABRB1 MGD MGI:95619
Rattus norvegicus GABRB1 RGD RGD:2649
Canis familiaris GABRB1 VGNC VGNC:41058
Felis catus GABRB1 VGNC VGNC:62423
Macaca mulatta GABRB1 VGNC VGNC:106582
Bos taurus GABRB1 VGNC VGNC:29196
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z