ENSMUSG00000040506


Mus musculus

Features
Gene ID: ENSMUSG00000040506
  
Biological name :Ambra1
  
Synonyms : A2AH22 / Activating molecule in BECN1-regulated autophagy protein 1 / Ambra1
  
Possible biological names infered from orthology : autophagy and beclin 1 regulator 1 / Q9C0C7
  
Species: Mus musculus
  
Chr. number: 2
Strand: 1
Band: E1
Gene start: 91730134
Gene end: 91918849
  
Corresponding Affymetrix probe sets: 10473981 (MoGene1.0st)   1442477_at (Mouse Genome 430 2.0 Array)   1454985_at (Mouse Genome 430 2.0 Array)   1458150_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000106949
Ensembl peptide - ENSMUSP00000048898
Ensembl peptide - ENSMUSP00000049258
Ensembl peptide - ENSMUSP00000097299
Ensembl peptide - ENSMUSP00000106948
NCBI entrez gene - 228361     See in Manteia.
MGI - MGI:2443564
RefSeq - NM_001080754
RefSeq - XM_006499252
RefSeq - NM_172669
RefSeq - XM_006499253
RefSeq Peptide - NP_001074223
RefSeq Peptide - NP_766257
swissprot - A2AH22
Ensembl - ENSMUSG00000040506
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ambra1aENSDARG00000008322Danio rerio
 ambra1bENSDARG00000039878Danio rerio
 AMBRA1ENSGALG00000008358Gallus gallus
 AMBRA1ENSG00000110497Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017986  WD40-repeat-containing domain
 IPR019775  WD40 repeat, conserved site
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000045 autophagosome assembly ISO
 biological_processGO:0000422 autophagy of mitochondrion ISO
 biological_processGO:0000423 mitophagy ISO
 biological_processGO:0006914 autophagy IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0008285 negative regulation of cell proliferation IMP
 biological_processGO:0009267 cellular response to starvation IEA
 biological_processGO:0010508 positive regulation of autophagy IEA
 biological_processGO:0010667 negative regulation of cardiac muscle cell apoptotic process IEA
 biological_processGO:0021915 neural tube development IMP
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0031667 response to nutrient levels IEA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IMP
 biological_processGO:0043552 positive regulation of phosphatidylinositol 3-kinase activity ISO
 biological_processGO:0098780 response to mitochondrial depolarisation ISO
 cellular_componentGO:0005737 cytoplasm ISO
 cellular_componentGO:0005739 mitochondrion ISO
 cellular_componentGO:0005776 autophagosome IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005930 axoneme IDA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IBA
 cellular_componentGO:0045335 phagocytic vesicle IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0031625 ubiquitin protein ligase binding ISO
 molecular_functionGO:0051020 GTPase binding ISO


Pathways (from Reactome)
Pathway description
Macroautophagy


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000351 increased cell proliferation "greater than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Lrp6Cd/Lrp6+
Genetic Background: involves: A * 129/Sv

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Lrp6Cd/Lrp6+
Genetic Background: involves: A * 129/Sv

Allelic Composition: Ambra1Gt(pGT1.8geo)1Fcec/Ambra1Gt(pGT1.8geo)1Fcec
Genetic Background: involves: CD-1 * NMRI

 MP:0000934 abnormal telencephalon development "malformed or incomplete differentiation of the anterior division of the embryonic prosencephalon " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:49840]
Show

Allelic Composition: Lrp6Cd/Lrp6+
Genetic Background: involves: A * 129/Sv

 MP:0002809 enlarged spinal cord size "larger appearance of the spinal cord" [J:83935]
Show

Allelic Composition: Lrp6Cd/Lrp6+
Genetic Background: involves: A * 129/Sv

 MP:0003054 spina bifida "common congenital midline defect of fusion of the vertebral arch" [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Lrp6Cd/Lrp6+
Genetic Background: involves: A * 129/Sv

Allelic Composition: Ambra1Gt(pGT1.8geo)1Fcec/Ambra1Gt(pGT1.8geo)1Fcec
Genetic Background: involves: CD-1 * NMRI

 MP:0004837 abnormal neural fold formation "any anomaly in the process by which the edges of the neural plate thicken and move up to form a U-shaped structure called the neural groove" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lrp6Cd/Lrp6+
Genetic Background: involves: A * 129/Sv

 MP:0008260 abnormal autophagy "abnormal catabolic process involving the degradation of a cell s own components through the lysosomal machinery" [MGI:honda "Hiraoki Onda, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lrp6Cd/Lrp6+
Genetic Background: involves: A * 129/Sv

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Lrp6Cd/Lrp6+
Genetic Background: involves: A * 129/Sv

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Lrp6Cd/Lrp6+
Genetic Background: involves: A * 129/Sv

Allelic Composition: Ambra1Gt(pGT1.8geo)1Fcec/Ambra1Gt(pGT1.8geo)1Fcec
Genetic Background: involves: CD-1 * NMRI

 MP:0012701 increased embryonic neuroepithelium apoptosis "increase in the number of cells of the embryonic neuroepithelium undergoing programmed cell death" [MGI:anna]
Show

Allelic Composition: Lrp6Cd/Lrp6+
Genetic Background: involves: A * 129/Sv

 MP:0012705 increased embryonic neuroepithelial cell proliferation "increase in the expansion rate of the cells of the embryonic neuroepithelium by cell division" [CL:0000710, MGI:anna]
Show

Allelic Composition: Lrp6Cd/Lrp6+
Genetic Background: involves: A * 129/Sv

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000025907 Q9ESK9 / Rb1cc1 / RB1-inducible coiled-coil protein 1 / Q8TDY2* / RB1 inducible coiled-coil 1*  / reaction
 ENSMUSG00000029513 Prkab1 / Q9R078 / protein kinase, AMP-activated, beta 1 non-catalytic subunit / Q9Y478* / protein kinase AMP-activated non-catalytic subunit beta 1*  / reaction
 ENSMUSG00000028944 Prkag2 / Q91WG5 / protein kinase, AMP-activated, gamma 2 non-catalytic subunit / Q9UGJ0* / protein kinase AMP-activated non-catalytic subunit gamma 2*  / reaction
 ENSMUSG00000028518 Prkaa2 / Q8BRK8 / protein kinase, AMP-activated, alpha 2 catalytic subunit / P54646* / protein kinase AMP-activated catalytic subunit alpha 2*  / reaction
 ENSMUSG00000029512 Ulk1 / unc-51 like kinase 1 / O75385* / unc-51 like autophagy activating kinase 1*  / reaction
 ENSMUSG00000037526 Atg14 / Q8CDJ3 / Beclin 1-associated autophagy-related key regulator / Q6ZNE5* / autophagy related 14*  / reaction / complex
 ENSMUSG00000035086 Becn1 / O88597 / Beclin-1 Beclin-1-C 35 kDa Beclin-1-C 37 kDa / Q14457* / beclin 1*  / complex / reaction
 ENSMUSG00000027244 Atg13 / Q91YI1 / Mus musculus autophagy related 13 (Atg13), transcript variant 4, mRNA. / O75143* / autophagy related 13*  / reaction
 ENSMUSG00000064063 BC048507 / cDNA sequence BC048507 / DYNLL1* / P63167* / dynein light chain LC8-type 1*  / complex / reaction
 ENSMUSG00000020483 Dynll2 / Q9D0M5 / Dynein light chain 2, cytoplasmic / Q96FJ2* / dynein light chain LC8-type 2*  / complex / reaction
 ENSMUSG00000050697 Prkaa1 / Q5EG47 / protein kinase, AMP-activated, alpha 1 catalytic subunit / Q13131* / protein kinase AMP-activated catalytic subunit alpha 1*  / reaction
 ENSMUSG00000038205 Prkab2 / Q6PAM0 / protein kinase, AMP-activated, beta 2 non-catalytic subunit / O43741* / protein kinase AMP-activated non-catalytic subunit beta 2*  / reaction
 ENSMUSG00000037204 Atg101 / Q9D8Z6 / Autophagy-related protein 101 / Q9BSB4* / autophagy related 101*  / reaction
 ENSMUSG00000032571 Pik3r4 / Q8VD65 / Phosphoinositide 3-kinase regulatory subunit 4 / Q99570*  / reaction / complex
 ENSMUSG00000006542 Prkag3 / Q8BGM7 / protein kinase, AMP-activated, gamma 3 non-catatlytic subunit / Q9UGI9* / protein kinase AMP-activated non-catalytic subunit gamma 3*  / reaction
 ENSMUSG00000033628 Pik3c3 / Q6PF93 / Phosphatidylinositol 3-kinase catalytic subunit type 3 / Q8NEB9*  / reaction / complex
 ENSMUSG00000067713 O54950 / Prkag1 / protein kinase, AMP-activated, gamma 1 non-catalytic subunit / P54619* / protein kinase AMP-activated non-catalytic subunit gamma 1*  / reaction






 

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