2. Gene
  3. AMBRA1 - autophagy and beclin 1 regulator 1 Gene

AMBRA1 - autophagy and beclin 1 regulator 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

AMBRA1 Protein Structure

WD40

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

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  • 1298 a.a.
Protein Preferred Names Protein Names

activating molecule in BECN1-regulated autophagy protein 1

DDB1 and CUL4 associated factor 3

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 / 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