AMBRA1 - autophagy and beclin 1 regulator 1 Gene

Homo sapiens

Also known as DCAF3; WDR94

Gene ID: 55626 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables GTPase binding	IPI IPI: Inferred from physical interaction	25891078	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20562859	GOA
enables protein phosphatase binding	IDA IDA: Inferred from direct assay	25438055	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	21753002	GOA
enables ubiquitin-like ligase-substrate adaptor activity	IDA IDA: Inferred from direct assay	23524951	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in autophagosome assembly	IDA IDA: Inferred from direct assay	20921139	GOA
involved in autophagosome assembly	IMP IMP: Inferred from mutant phenotype	25215947	GOA
involved in mitophagy	IDA IDA: Inferred from direct assay	21753002	GOA
involved in mitophagy	IGI IGI: Inferred from genetic interaction	25215947	GOA
involved in mitophagy	IMP IMP: Inferred from mutant phenotype	25215947	GOA
involved in positive regulation of autophagy	IDA IDA: Inferred from direct assay	21358617	GOA
involved in positive regulation of autophagy	IMP IMP: Inferred from mutant phenotype	32333458	GOA
involved in positive regulation of free ubiquitin chain polymerization	IDA IDA: Inferred from direct assay	31123703	GOA
involved in positive regulation of mitophagy	IDA IDA: Inferred from direct assay	30217973	GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: Inferred from direct assay	21753002	GOA
involved in positive regulation of regulatory T cell differentiation	IDA IDA: Inferred from direct assay	30513302	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	33854232	GOA
involved in protein polyubiquitination	IDA IDA: Inferred from direct assay	30217973	GOA
involved in regulation of G1/S transition of mitotic cell cycle	IDA IDA: Inferred from direct assay	25438055	GOA
involved in response to mitochondrial depolarisation	IDA IDA: Inferred from direct assay	21753002	GOA
involved in response to mitochondrial depolarisation	IGI IGI: Inferred from genetic interaction	25215947	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Cul4-RING E3 ubiquitin ligase complex	IDA IDA: Inferred from direct assay	33854235	GOA
is active in cytoplasm	IDA IDA: Inferred from direct assay	21358617	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	17589504	GOA
is active in cytoskeleton	IDA IDA: Inferred from direct assay	20921139	GOA
located in cytosol	IDA IDA: Inferred from direct assay	21753002	GOA
colocalizes with mitochondrion	IDA IDA: Inferred from direct assay	21753002	GOA
is active in mitochondrion	IDA IDA: Inferred from direct assay	21358617	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	25215947	GOA
is active in nucleus	IDA IDA: Inferred from direct assay	32616651	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AMBRA1 Protein Structure

WD40

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

Protein Preferred Names

Protein Names

activating molecule in BECN1-regulated autophagy protein 1

DDB1 and CUL4 associated factor 3

AMBRA1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00643	AMBRA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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