AMBRA1 - autophagy and beclin 1 regulator 1 Gene

Also Known as DCAF3; WDR94

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55626

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 References 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 References 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 References 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

WD40: WD domain, G-beta repeat (85 - 124)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00643 AMBRA1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21820 Ambra1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28337 Ambra1 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others AMBRA1 NCBI