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  2. GABRR1 - gamma-aminobutyric acid type A receptor subunit rho1 Gene

GABRR1 - gamma-aminobutyric acid type A receptor subunit rho1 Gene

中文名称:γ-氨基丁酸 A 型受体亚基 rho1

种属: Homo sapiens

基因 ID: 2569 | 基因类型: protein coding

关于 GABRR1

Cytogenetic location: 6q15 Genomic coordinates (GRCh38): 6:89,177,504-89,231,288 (from NCBI)

This gene has 7 transcripts (splice variants), 243 orthologues and 45 paralogues. Low expression observed in reference dataset.

功能概要

GABA 是哺乳动物大脑中的主要抑制性神经递质,它作用于 GABA 受体,即配体门控氯离子通道。 GABRR1 是 rho 亚基家族的成员。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供,2012 年 2 月]

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

GABRR1 基因产物(4)

mRNA Protein Name
NM_001256703.1 NP_001243632.1 gamma-aminobutyric acid receptor subunit rho-1 isoform b precursor
NM_001256704.1 NP_001243633.1 gamma-aminobutyric acid receptor subunit rho-1 isoform c
NM_001267582.2 NP_001254511.1 gamma-aminobutyric acid receptor subunit rho-1 isoform c
NM_002042.5 NP_002033.2 gamma-aminobutyric acid receptor subunit rho-1 isoform a precursor

GABRR1 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (82 - 281)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (288 - 391)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (435 - 475)

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  • 479 a.a.
蛋白主名 其他名称

gamma-aminobutyric acid receptor subunit rho-1

GABA(A) receptor subunit rho-1

关联疾病

疾病名称 别名
Essential Tremor

Benign Essential Tremor

Familial Tremor

Hereditary Essential Tremor

Essential Hereditary Tremor

Shaky Hand Syndrome

Benign Essential Tremor Syndrome

Tremor Hereditary Essential

Essential Tremor, Susceptibility To

Tremor, Hereditary Essential

Accommodative Spasm

Spasm Of Accommodation

Cyclospasm

Ciliary Muscle Spasm

Ciliary Body Spasm

Diabetic Cataract

Cataract - Diabetic

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Bos taurus GABRR1 VGNC VGNC:29203
Rattus norvegicus GABRR1 RGD RGD:61900
Macaca mulatta GABRR1 VGNC VGNC:72860
Mus musculus GABRR1 MGD MGI:95625
Felis catus GABRR1 VGNC VGNC:102426
Canis familiaris GABRR1 VGNC VGNC:57239
Others GABRR1 NCBI