Mouse Gene Ambra1 (ENSMUST00000045699.7) from GENCODE VM23 Comprehensive Transcript Set (only Basic displayed by default)
  Description: Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation. (from UniProt A2AH22)
Gencode Transcript: ENSMUST00000045699.7
Gencode Gene: ENSMUSG00000040506.16
Transcript (Including UTRs)
   Position: mm10 chr2:91,766,445-91,918,849 Size: 152,405 Total Exon Count: 17 Strand: +
Coding Region
   Position: mm10 chr2:91,766,566-91,917,823 Size: 151,258 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated at UCSC: 2019-09-19

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:91,766,445-91,918,849)mRNA (may differ from genome)Protein (1180 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsMGIPubMed
ReactomeSOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: AMRA1_MOUSE
DESCRIPTION: RecName: Full=Activating molecule in BECN1-regulated autophagy protein 1;
FUNCTION: Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation.
SUBUNIT: Interacts with BECN1. Probably forms a complex with BECN1 and PIK3C3.
SUBCELLULAR LOCATION: Cytoplasmic vesicle, autophagosome (Probable).
DEVELOPMENTAL STAGE: At E8.5, it is detected throughout the neuroepithelium. At E11.5, it is highly expressed in the ventral- most part of the spinal cord, the encephalic vesicles, the neural retina, the limbs and the dorsal root ganglia. Later, it is expressed in the entire developing nervous system as well as in other tissues. In brain, strong expression is observed in the cortex, hippocampus and striatum of postnatal brain.
DISRUPTION PHENOTYPE: Mice display severe neural tube defects associated with autophagy impairment, accumulation of ubiquitinated proteins, unbalanced cell proliferation and excessive apoptotic cell death.
SIMILARITY: Contains 3 WD repeats.

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -39.20121-0.324 Picture PostScript Text
3' UTR -375.401026-0.366 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like

ModBase Predicted Comparative 3D Structure on A2AH22
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
HumanRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
GenBankRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0031625 ubiquitin protein ligase binding
GO:0051020 GTPase binding

Biological Process:
GO:0000045 autophagosome assembly
GO:0000422 mitophagy
GO:0000423 macromitophagy
GO:0006914 autophagy
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0008285 negative regulation of cell proliferation
GO:0009267 cellular response to starvation
GO:0010508 positive regulation of autophagy
GO:0010667 negative regulation of cardiac muscle cell apoptotic process
GO:0021915 neural tube development
GO:0030154 cell differentiation
GO:0031667 response to nutrient levels
GO:0043524 negative regulation of neuron apoptotic process
GO:0043552 positive regulation of phosphatidylinositol 3-kinase activity
GO:0098780 response to mitochondrial depolarisation

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005776 autophagosome
GO:0005829 cytosol
GO:0005930 axoneme
GO:0031410 cytoplasmic vesicle
GO:0043231 intracellular membrane-bounded organelle
GO:0045335 phagocytic vesicle


-  Descriptions from all associated GenBank mRNAs
  LF193416 - JP 2014500723-A/919: Polycomb-Associated Non-Coding RNAs.
AK148887 - Mus musculus 2 days neonate sympathetic ganglion cDNA, RIKEN full-length enriched library, clone:7120459J24 product:Ischemia related factor NYW-1 homolog [Mus musculus], full insert sequence.
AK084557 - Mus musculus 13 days embryo heart cDNA, RIKEN full-length enriched library, clone:D330014N05 product:ISCHEMIA RELATED FACTOR NYW-1 homolog [Rattus norvegicus], full insert sequence.
AK155513 - Mus musculus NOD-derived CD11c +ve dendritic cells cDNA, RIKEN full-length enriched library, clone:F630309F24 product:Ischemia related factor NYW-1 homolog, full insert sequence.
AK037516 - Mus musculus 16 days neonate thymus cDNA, RIKEN full-length enriched library, clone:A130023A14 product:hypothetical protein, full insert sequence.
AK083596 - Mus musculus 9 days embryo whole body cDNA, RIKEN full-length enriched library, clone:D030051N19 product:ISCHEMIA RELATED FACTOR NYW-1 homolog [Rattus norvegicus], full insert sequence.
AK169280 - Mus musculus cDNA, RIKEN full-length enriched library, clone:I920166E12 product:Ischemia related factor NYW-1 homolog [Mus musculus], full insert sequence.
BC054082 - Mus musculus cDNA clone IMAGE:6466137, containing frame-shift errors.
BC032293 - Mus musculus autophagy/beclin 1 regulator 1, mRNA (cDNA clone IMAGE:5400613), with apparent retained intron.
AK129433 - Mus musculus mRNA for mKIAA1736 protein.
MA428993 - JP 2018138019-A/919: Polycomb-Associated Non-Coding RNAs.
LF261668 - JP 2014500723-A/69171: Polycomb-Associated Non-Coding RNAs.
LF261669 - JP 2014500723-A/69172: Polycomb-Associated Non-Coding RNAs.
LF261670 - JP 2014500723-A/69173: Polycomb-Associated Non-Coding RNAs.
AK219087 - Mus musculus cDNA, clone:Y2G0147F05, strand:plus, reference:ENSEMBL:Mouse-Transcript-ENST:ENSMUST00000070233, based on BLAT search.
LF261671 - JP 2014500723-A/69174: Polycomb-Associated Non-Coding RNAs.
LF261672 - JP 2014500723-A/69175: Polycomb-Associated Non-Coding RNAs.
MA497245 - JP 2018138019-A/69171: Polycomb-Associated Non-Coding RNAs.
MA497246 - JP 2018138019-A/69172: Polycomb-Associated Non-Coding RNAs.
MA497247 - JP 2018138019-A/69173: Polycomb-Associated Non-Coding RNAs.
MA497248 - JP 2018138019-A/69174: Polycomb-Associated Non-Coding RNAs.
MA497249 - JP 2018138019-A/69175: Polycomb-Associated Non-Coding RNAs.
LF261720 - JP 2014500723-A/69223: Polycomb-Associated Non-Coding RNAs.
LF261721 - JP 2014500723-A/69224: Polycomb-Associated Non-Coding RNAs.
LF261740 - JP 2014500723-A/69243: Polycomb-Associated Non-Coding RNAs.
AK010219 - Mus musculus adult male tongue cDNA, RIKEN full-length enriched library, clone:2310079H06 product:unclassifiable, full insert sequence.
LF261741 - JP 2014500723-A/69244: Polycomb-Associated Non-Coding RNAs.
LF261742 - JP 2014500723-A/69245: Polycomb-Associated Non-Coding RNAs.
MA497297 - JP 2018138019-A/69223: Polycomb-Associated Non-Coding RNAs.
MA497298 - JP 2018138019-A/69224: Polycomb-Associated Non-Coding RNAs.
MA497317 - JP 2018138019-A/69243: Polycomb-Associated Non-Coding RNAs.
MA497318 - JP 2018138019-A/69244: Polycomb-Associated Non-Coding RNAs.
MA497319 - JP 2018138019-A/69245: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein A2AH22 (Reactome details) participates in the following event(s):

R-MMU-1632843 AMBRA1 binds DYNLL1,DYNLL2
R-MMU-5678315 Beclin-1 complex, p-AMBRA1 dissociate from DYNLL1,DYNLL2
R-MMU-5678313 AMBRA1:DYNLL1,DYNLL2 binds Beclin-1 complex
R-MMU-1632857 ULK1 phosphorylates AMBRA1:Beclin-1 complex
R-MMU-1632852 Macroautophagy
R-MMU-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: A2AH21, A2AH22, A2AH24, AMRA1_MOUSE, BC032293, Kiaa1736, Q3TF60, Q3U239, Q3UF70, Q6ZPJ1, Q8BJJ8, Q8BYW8, uc289ymb.1
UCSC ID: uc289ymb.1
RefSeq Accession: NM_001080754
Protein: A2AH22 (aka AMRA1_MOUSE)
CCDS: CCDS38180.1

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.