AutismKB 2.0

Annotation Details for AMBRA1


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Basic Information Top
Gene Symbol:AMBRA1 ( DCAF3,FLJ20294,KIAA1736,MGC33725,WDR94 )
Gene Full Name: autophagy/beclin-1 regulator 1
Band: 11p11.2
Quick LinksEntrez ID:55626; OMIM: 611359; Uniprot ID:AMRA1_HUMAN; ENSEMBL ID: ENSG00000110497; HGNC ID: 25990
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm17589504
GO:0005739IDA-mitochondrion25215947
GO:0005739IDAcolocalizes_withmitochondrion21753002
GO:0005741NAS-mitochondrial outer membrane25215947
GO:0005776IEA-autophagosome-
GO:0005829IDA-cytosol21753002
GO:0005829TAS-cytosol-
GO:0005930ISS-axoneme-
GO:0045335IEA-phagocytic vesicle-
GO:0048471TAS-perinuclear region of cytoplasm21753002
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding20562859
GO:0031625IPI-ubiquitin protein ligase binding21753002
GO:0051020IPI-GTPase binding25891078
GO ID Evidence Qualifier GO_term References
GO:0000045IMP-autophagosome assembly25215947
GO:0000422IGI-mitophagy25215947
GO:0000423IDA-macromitophagy21753002
GO:0000423IMP-macromitophagy25215947
GO:0008285IEA-negative regulation of cell proliferation-
GO:0009267IEA-cellular response to starvation-
GO:0010508IEA-positive regulation of autophagy-
GO:0010667IEA-negative regulation of cardiac muscle cell apoptotic process-
GO:0016236TAS-macroautophagy-
GO:0021915IEA-neural tube development-
GO:0030154IEA-cell differentiation-
GO:0043524IEA-negative regulation of neuron apoptotic process-
GO:0043552IDA-positive regulation of phosphatidylinositol 3-kinase activity21753002
GO:0098780IDA-response to mitochondrial depolarisation21753002
GO:0098780IGI-response to mitochondrial depolarisation25215947
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
AMBRA1DDB112076516949367 20562859 Affinity Capture-MS; Reconstituted Complex
AMBRA1DDB110800916949367 20562859 Affinity Capture-MS; Reconstituted Complex
AMBRA1MAP1B11030420562859 Affinity Capture-MS
AMBRA1MAP1B12076520562859 Affinity Capture-MS
AMBRA1CUL4B11402816949367 Reconstituted Complex
AMBRA1CUL4B12076516949367 Reconstituted Complex
AMBRA1CUL4A12076516949367 Reconstituted Complex
AMBRA1CUL4A11402916949367 Reconstituted Complex
AMBRA1BECN111422620562859 Affinity Capture-MS
AMBRA1BECN112076520562859 Affinity Capture-MS
AMBRA1ATG4B11680120562859 Affinity Capture-MS
AMBRA1ATG4B12076520562859 Affinity Capture-MS
USP50AMBRA113188419615732 Affinity Capture-MS
USP50AMBRA112076519615732 Affinity Capture-MS
ATG3AMBRA112217120562859 Affinity Capture-MS
ATG3AMBRA112076520562859 Affinity Capture-MS
DDA1AMBRA112248520562859 Affinity Capture-MS
DDA1AMBRA112076520562859 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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