1. Gene
  2. GABRG1 - gamma-aminobutyric acid type A receptor subunit gamma1 Gene

GABRG1 - gamma-aminobutyric acid type A receptor subunit gamma1 Gene

中文名称:γ-氨基丁酸 A 型受体亚基 γ1

种属: Homo sapiens

基因 ID: 2565 | 基因类型: protein coding

关于 GABRG1

Cytogenetic location: 4p12 Genomic coordinates (GRCh38): 4:46,035,769-46,124,054 (from NCBI)

This gene has 1 transcript (splice variant), 189 orthologues and 45 paralogues. Restricted expression toward brain (RPKM 11.0).

功能概要

该基因编码的蛋白质属于配体门控离子通道家族。它是一种完整的膜蛋白,通过与苯二氮卓受体结合并打开完整的氯离子通道,在抑制神经传递方面发挥重要作用。该基因与其他三个家族成员聚集在 4 号染色体上。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral Chloride Channel. This gene is clustered with three Other family members on chromosome 4. [provided by RefSeq, Jul 2008]

GABRG1 基因产物(1)

mRNA Protein Name
NM_173536.4 NP_775807.2 gamma-aminobutyric acid receptor subunit gamma-1 precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 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

GABRG1 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (65 - 269)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (277 - 374)

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  • 465 a.a.
蛋白主名 其他名称

gamma-aminobutyric acid receptor subunit gamma-1

GABA(A) receptor subunit gamma-1

GABRG1 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
GABRG1 Q8N1C3 OPTN Homo sapiens Q96CV9 32814053
种属内
GABRG1 Q8N1C3 OPTN Homo sapiens Q96CV9 32814053
种属内
GABRG1 Q8N1C3 OPTN Homo sapiens Q96CV9 32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Substance Dependence
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

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus GABRG1 RGD RGD:621732
Canis familiaris GABRG1 VGNC VGNC:41063
Macaca mulatta GABRG1 VGNC VGNC:72856
Bos taurus GABRG1 VGNC VGNC:55048
Felis catus GABRG1 VGNC VGNC:78501
Mus musculus GABRG1 MGD MGI:103156