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    Ambra1 autophagy/beclin 1 regulator 1 [ Mus musculus (house mouse) ]

    Gene ID: 228361, updated on 12-Feb-2019

    Summary

    Official Symbol
    Ambra1provided by MGI
    Official Full Name
    autophagy/beclin 1 regulator 1provided by MGI
    Primary source
    MGI:MGI:2443564
    See related
    Ensembl:ENSMUSG00000040506
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    AA474864; AV021921; mKIAA1736; A130023A14; 2310079H06Rik; D030051N19Rik
    Expression
    Ubiquitous expression in testis adult (RPKM 13.4), adrenal adult (RPKM 12.3) and 28 other tissues See more
    Orthologs

    Genomic context

    See Ambra1 in Genome Data Viewer
    Location:
    2; 2 E1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 2 NC_000068.7 (91730111..91918849)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (91570295..91759006)

    Chromosome 2 - NC_000068.7Genomic Context describing neighboring genes Neighboring gene autophagy related 13 Neighboring gene harbinger transposase derived 1 Neighboring gene dyskeratosis congenita 1, dyskerin homolog pseudogene Neighboring gene cholinergic receptor, muscarinic 4 Neighboring gene predicted gene, 39876 Neighboring gene diacylglycerol kinase zeta Neighboring gene midkine

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1)  1 citation
    • Endonuclease-mediated (1) 

    Pathways from BioSystems

    • Autophagy - animal, organism-specific biosystem (from KEGG)
      Autophagy - animal, organism-specific biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
    • Autophagy - animal, conserved biosystem (from KEGG)
      Autophagy - animal, conserved biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Macroautophagy, organism-specific biosystem (from REACTOME)
      Macroautophagy, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Mitophagy - animal, organism-specific biosystem (from KEGG)
      Mitophagy - animal, organism-specific biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
    • Mitophagy - animal, conserved biosystem (from KEGG)
      Mitophagy - animal, conserved biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    autophagosome assembly ISO
    Inferred from Sequence Orthology
    more info
     
    autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    autophagy of mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    mitophagy ISO
    Inferred from Sequence Orthology
    more info
     
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cardiac muscle cell apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    neural tube development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of autophagy ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of phosphatidylinositol 3-kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    response to mitochondrial depolarisation ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    phagocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    activating molecule in BECN1-regulated autophagy protein 1
    Names
    activating molecule in Beclin1-regulated autophagy

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001080754.1NP_001074223.1  activating molecule in BECN1-regulated autophagy protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001074223.1

      Status: VALIDATED

      Source sequence(s)
      AK169280, BC032293, CJ150588
      Consensus CDS
      CCDS38180.1
      UniProtKB/Swiss-Prot
      A2AH22
      Related
      ENSMUSP00000097299.3, ENSMUST00000099712.9
      Conserved Domains (3) summary
      COG2319
      Location:48198
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:5692
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:59198
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. NM_172669.3NP_766257.3  activating molecule in BECN1-regulated autophagy protein 1 isoform 1

      See identical proteins and their annotated locations for NP_766257.3

      Status: VALIDATED

      Source sequence(s)
      AK083596, AK129433, BC032293, CJ150588
      Consensus CDS
      CCDS38179.1
      UniProtKB/Swiss-Prot
      A2AH22
      Related
      ENSMUSP00000049258.7, ENSMUST00000045705.13
      Conserved Domains (3) summary
      COG2319
      Location:48198
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:5692
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:59198
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000068.7 Reference GRCm38.p4 C57BL/6J

      Range
      91730111..91918849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006499252.1XP_006499315.1  activating molecule in BECN1-regulated autophagy protein 1 isoform X1

      Conserved Domains (3) summary
      COG2319
      Location:48198
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:5692
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:59198
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. XM_006499253.1XP_006499316.1  activating molecule in BECN1-regulated autophagy protein 1 isoform X2

      UniProtKB/Swiss-Prot
      A2AH22
      Related
      ENSMUSP00000106949.2, ENSMUST00000111317.8
      Conserved Domains (3) summary
      COG2319
      Location:48198
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:5692
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:59198
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
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