AMBRA1 - autophagy and beclin 1 regulator 1 Gene

中文名称：自噬和 beclin 1 调节器 1

种属: Homo sapiens

同用名: DCAF3; WDR94

基因 ID: 55626 | 基因类型: protein coding

关于 AMBRA1

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:46,396,412-46,594,023 (from NCBI)

This gene has 13 transcripts (splice variants) and 229 orthologues. Ubiquitous expression in testis (RPKM 5.9), brain (RPKM 5.4) and 25 other tissues.

功能概要

启用 GTPase 结合活性和泛素蛋白连接酶结合活性。参与巨自噬；磷脂酰肌醇 3-激酶活性的正调节；和对线粒体去极化的反应。位于胞质溶胶中。与线粒体共定位。多系统萎缩的生物标志物。 [由基因组资源联盟提供，2022 年 4 月]

Enables GTPase binding activity and ubiquitin protein Ligase binding activity. Involved in macroautophagy; positive regulation of phosphatidylinositol 3-kinase activity; and response to mitochondrial depolarisation. Located in cytosol. Colocalizes with mitochondrion. Biomarker of multiple system atrophy. [provided by Alliance of Genome Resources, Apr 2022]

AMBRA1 基因产物(9)

mRNA	Protein	Name
NM_001267782.2	NP_001254711.1	activating molecule in BECN1-regulated autophagy protein 1 isoform 1
NM_001267783.2	NP_001254712.1	activating molecule in BECN1-regulated autophagy protein 1 isoform 3
NM_001300731.2	NP_001287660.1	activating molecule in BECN1-regulated autophagy protein 1 isoform 4
NM_001367468.1	NP_001354397.1	activating molecule in BECN1-regulated autophagy protein 1 isoform 5
NM_001367469.1	NP_001354398.1	activating molecule in BECN1-regulated autophagy protein 1 isoform 6
NM_001367470.1	NP_001354399.1	activating molecule in BECN1-regulated autophagy protein 1 isoform 7
NM_001367471.1	NP_001354400.1	activating molecule in BECN1-regulated autophagy protein 1 isoform 2
NM_001387011.1	NP_001373940.1	activating molecule in BECN1-regulated autophagy protein 1 isoform 5
NM_017749.3	NP_060219.2	activating molecule in BECN1-regulated autophagy protein 1 isoform 2

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 GTPase binding	IPI IPI: 通过物理相互作用推断	25891078	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20562859	GOA
enables protein phosphatase binding	IDA IDA: 通过直接分析推断	25438055	GOA
enables ubiquitin protein ligase binding	IPI IPI: 通过物理相互作用推断	21753002	GOA
enables ubiquitin-like ligase-substrate adaptor activity	IDA IDA: 通过直接分析推断	23524951	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in autophagosome assembly	IDA IDA: 通过直接分析推断	20921139	GOA
involved in autophagosome assembly	IMP IMP: 通过突变表型推断	25215947	GOA
involved in mitophagy	IDA IDA: 通过直接分析推断	21753002	GOA
involved in mitophagy	IGI IGI: 通过遗传相互作用推断	25215947	GOA
involved in mitophagy	IMP IMP: 通过突变表型推断	25215947	GOA
involved in positive regulation of autophagy	IDA IDA: 通过直接分析推断	21358617	GOA
involved in positive regulation of autophagy	IMP IMP: 通过突变表型推断	32333458	GOA
involved in positive regulation of free ubiquitin chain polymerization	IDA IDA: 通过直接分析推断	31123703	GOA
involved in positive regulation of mitophagy	IDA IDA: 通过直接分析推断	30217973	GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: 通过直接分析推断	21753002	GOA
involved in positive regulation of regulatory T cell differentiation	IDA IDA: 通过直接分析推断	30513302	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA IDA: 通过直接分析推断	33854232	GOA
involved in protein polyubiquitination	IDA IDA: 通过直接分析推断	30217973	GOA
involved in regulation of G1/S transition of mitotic cell cycle	IDA IDA: 通过直接分析推断	25438055	GOA
involved in response to mitochondrial depolarisation	IDA IDA: 通过直接分析推断	21753002	GOA
involved in response to mitochondrial depolarisation	IGI IGI: 通过遗传相互作用推断	25215947	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Cul4-RING E3 ubiquitin ligase complex	IDA IDA: 通过直接分析推断	33854235	GOA
is active in cytoplasm	IDA IDA: 通过直接分析推断	21358617	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	17589504	GOA
is active in cytoskeleton	IDA IDA: 通过直接分析推断	20921139	GOA
located in cytosol	IDA IDA: 通过直接分析推断	21753002	GOA
colocalizes with mitochondrion	IDA IDA: 通过直接分析推断	21753002	GOA
is active in mitochondrion	IDA IDA: 通过直接分析推断	21358617	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	25215947	GOA
is active in nucleus	IDA IDA: 通过直接分析推断	32616651	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

AMBRA1 蛋白结构

WD40

0
200
400
600
800
1000
1200
1298 a.a.

蛋白主名

其他名称

activating molecule in BECN1-regulated autophagy protein 1

DDB1 and CUL4 associated factor 3

AMBRA1 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
Intra	AMBRA1	Q9C0C7	PPP2R1A	Homo sapiens	P30153	GMS	25438055
Intra	AMBRA1	Q9C0C7	PPP2R1A	Homo sapiens	P30153	Anti Tag CoIP	25438055
Intra	AMBRA1	Q9C0C7	PPP2R1A	Homo sapiens	P30153	TAP	25438055
Intra	AMBRA1	Q9C0C7	BCL2	Homo sapiens	P10415	FRET	21358617
Intra	AMBRA1	Q9C0C7	BCL2	Homo sapiens	P10415	Anti Bait CoIP	21358617
Intra	AMBRA1	Q9C0C7	BCL2	Homo sapiens	P10415	IF	21358617
Intra	AMBRA1	Q9C0C7	ULK1	Homo sapiens	O75385	Anti Bait CoIP	25438055
Intra	AMBRA1	Q9C0C7	BECN1	Homo sapiens	Q14457	Anti Bait CoIP	21358617
Intra	AMBRA1	Q9C0C7	BECN1	Homo sapiens	Q14457	Anti Bait CoIP	25438055
Intra	AMBRA1	Q9C0C7	BECN1	Homo sapiens	Q14457	Anti Tag CoIP	21358617
Cross	AMBRA1	Q9C0C7	vif	Human immunodeficiency virus	P12504	Pull Down	22190034

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

Liver Carcinoma In Situ

Carcinoma In Situ Of Liver And Biliary System

Carcinoma In Situ Of Liver, Gallbladder And Bile Ducts

Myopathy, X-Linked, With Excessive Autophagy

X-Linked Myopathy With Excessive Autophagy	Xmea
MEAX	Vacuolar Myopathy

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

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-RS00643	AMBRA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	AMBRA1	VGNC	VGNC:59763
Mus musculus	AMBRA1	MGD	MGI:2443564
Rattus norvegicus	AMBRA1	RGD	RGD:621330
Bos taurus	AMBRA1	VGNC	VGNC:25858
Canis familiaris	AMBRA1	VGNC	VGNC:37826
Macaca mulatta	AMBRA1	VGNC	VGNC:69702

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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）

AMBRA1 - autophagy and beclin 1 regulator 1 Gene

关于 AMBRA1

功能概要

AMBRA1 基因产物(9)

AMBRA1 蛋白结构

AMBRA1 蛋白互作信息

关联疾病

直系同源

热门区域

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AMBRA1 - autophagy and beclin 1 regulator 1 Gene

关于 AMBRA1

功能概要

AMBRA1 基因产物(9)

AMBRA1 蛋白结构

AMBRA1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z