G3BP1 - G3BP stress granule assembly factor 1 Gene

中文名称：G3BP 应力颗粒装配因子 1

种属: Homo sapiens

同用名: G3BP; HDH-VIII

基因 ID: 10146 | 基因类型: protein coding

关于 G3BP1

Cytogenetic location: 5q33.1 Genomic coordinates (GRCh38): 5:151,771,954-151,812,785 (from NCBI)

This gene has 78 transcripts (splice variants), 238 orthologues and 1 paralogue. Ubiquitous expression in lymph node (RPKM 18.3), appendix (RPKM 16.8) and 25 other tissues.

功能概要

该基因编码一种 DNA 解旋酶，它更倾向于部分解旋的 3' 尾底物，也可以以 ATP 依赖性方式解旋部分 RNA/DNA 和 RNA/RNA 双链体。这种酶是异质核 RNA 结合蛋白的成员，也是 Ras 信号转导通路的一个组成部分。它通过与其 SH3 结构域相关联而特异性结合 Ras-GTPase 激活蛋白。已经描述了该基因的几种可变剪接的转录本变体，但尚未确定其中一些变体的全长性质。[RefSeq 提供，2008 年 7 月]

This gene encodes one of the DNA-unwinding Enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This Enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

G3BP1 基因产物(2)

mRNA	Protein	Name
NM_005754.3	NP_005745.1	ras GTPase-activating protein-binding protein 1
NM_198395.2	NP_938405.1	ras GTPase-activating protein-binding protein 1

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 DNA helicase activity	IDA IDA: 通过直接分析推断	9889278	GOA
enables DNA/RNA helicase activity	IDA IDA: 通过直接分析推断	9889278	GOA
enables RNA helicase activity	IDA IDA: 通过直接分析推断	9889278	GOA
enables molecular condensate scaffold activity	IDA IDA: 通过直接分析推断	32302570	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	8649363	GOA
enables ribosomal small subunit binding	IDA IDA: 通过直接分析推断	27022092	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in defense response to virus	IMP IMP: 通过突变表型推断	30510222	GOA
involved in positive regulation of stress granule assembly	IMP IMP: 通过突变表型推断	23279204	GOA
involved in positive regulation of type I interferon production	IDA IDA: 通过直接分析推断	30804210	GOA
involved in positive regulation of type I interferon production	IMP IMP: 通过突变表型推断	30510222	GOA
involved in stress granule assembly	IDA IDA: 通过直接分析推断	27022092	GOA
involved in stress granule assembly	IMP IMP: 通过突变表型推断	20180778	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	30510222	GOA
is active in cytoplasmic stress granule	IDA IDA: 通过直接分析推断	32302570	GOA
located in cytoplasmic stress granule	IDA IDA: 通过直接分析推断	30404792	GOA
located in cytosol	IDA IDA: 通过直接分析推断	20180778	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

G3BP1 蛋白结构

NTF2

RRM_1

0
100
200
300
400
466 a.a.

蛋白主名

其他名称

ras GTPase-activating protein-binding protein 1

ATP-dependent DNA helicase VIII

关联疾病

疾病名称

别名

Chikungunya

Chikungunya Fever	Arbovirus A Chikungunya Type
Chik	Chikv Infection
Ck	Chikungunya Virus Infection
Chikungunya Haemorrhagic Fever	Chikungunya Viral Disease
Chikungunya Mosquito-Borne Viral Fever

Mouth Disease

Mouth Diseases

Mouth Disorders

Multisystem Proteinopathy

Epithelial-Stromal Tgfbi Dystrophy

Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V

Frontotemporal Dementia

Pallidopontonigral Degeneration	Frontotemporal Lobar Degeneration
Semantic Dementia	FTD
Frontotemporal Lobe Dementia	Multiple System Tauopathy With Presenile Dementia
Dementia, Frontotemporal	Frontotemporal Dementia With Parkinsonism
Mstd	Frontotemporal Lobar Degeneration With Tau Inclusions
Ftld With Tau Inclusions	Dementia, Frontotemporal, With Parkinsonism
Fldem	Ftdp17
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex	Ddpac
Wilhelmsen-Lynch Disease	Wld
Ppnd	Dementia, Frontotemporal, With Or Without Parkinsonism
Semantic Primary Progressive Aphasia	Semantic Variant Ppa
Wilhemsen-Lynch Disease	Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17	Ftd-Als
Ftld	Pick Complex
Pick Disease Of The Brain	Frontotemporal Dementia With Parkinsonism-17
Grn-Related Frontotemporal Dementia	Frontotemporal Dementia With Motor Neuron Disease
Dementia In Fronto-Temporal Lobar Degeneration	Ftd - [Frontotemporal Dementia]
Temple Dementia	Frontal Lobe Dementia

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-162288	FAZ-3532		99.66%	否
HY-162289	FAZ-3780		98.91%	否
HY-RS05189	G3BP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	G3BP1	VGNC	VGNC:41038
Rattus norvegicus	G3BP1	RGD	RGD:621140
Mus musculus	G3BP1	MGD	MGI:1351465
Macaca mulatta	G3BP1	VGNC	VGNC:72810
Felis catus	G3BP1	VGNC	VGNC:97440
Bos taurus	G3BP1	VGNC	VGNC:29176
Others	G3BP1	NCBI

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