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    AMBRA1 autophagy/beclin-1 regulator 1 [ Homo sapiens ]

    Gene ID: 55626, updated on 11-May-2012

    Summary

    Official Symbol
    AMBRA1provided by HGNC
    Official Full Name
    autophagy/beclin-1 regulator 1provided by HGNC
    Primary source
    HGNC:25990
    See related
    Ensembl:ENSG00000110497; HPRD:10975; MIM:611359; Vega:OTTHUMG00000166500
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DCAF3; WDR94; FLJ20294; KIAA1736; MGC33725

    Genomic context

    Location :
    11p11.2
    Sequence :
    Chromosome: 11; NC_000011.9 (46417964..46612914, complement)
    See AMBRA1 in Epigenomics, MapViewer

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene cholinergic receptor, muscarinic 4 Neighboring gene midkine (neurite growth-promoting factor 2) Neighboring gene ribosomal protein S10 pseudogene 19 Neighboring gene microRNA 3160-1 Neighboring gene microRNA 3160-2 Neighboring gene harbinger transposase derived 1 Neighboring gene ATG13 autophagy related 13 homolog (S. cerevisiae)

    Genomic regions, transcripts, and products

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Hypothetical protein FLJ20294 Q14457 BECN1    HPRD  PubMed  
    BioGRID:120765 BioGRID:122171 ATG3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120765 BioGRID:116801 ATG4B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120765 BioGRID:114226 BECN1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120765 BioGRID:114029 CUL4A    BioGRID  PubMed Reconstituted Complex 
    BioGRID:120765 BioGRID:114028 CUL4B    BioGRID  PubMed Reconstituted Complex 
    BioGRID:120765 BioGRID:122485 DDA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120765 BioGRID:108009 DDB1    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:120765 BioGRID:199074 Ddb1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120765 BioGRID:207994 Dynll1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120765 BioGRID:110304 MAP1B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120765 BioGRID:229954 Nek9    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120765 BioGRID:111105 PARK2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:120765 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:120765 BioGRID:131884 USP50    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    more info
     
    nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    autophagic vacuole IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    activating molecule in BECN1-regulated autophagy protein 1
    Names
    activating molecule in BECN1-regulated autophagy protein 1
    WD repeat domain 94
    DDB1 and CUL4 associated factor 3
    activating molecule in beclin-1-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_017749.2NP_060219.2  activating molecule in BECN1-regulated autophagy protein 1

      Status: VALIDATED

      Source sequence(s)
      AB051523, AK000301, BC045609, CA389399
      Consensus CDS
      CCDS31475.1
      UniProtKB/Swiss-Prot
      Q9C0C7
      Related
      ENSP00000318313, OTTHUMP00000233089, ENST00000314845, OTTHUMT00000390099
      Conserved Domains (1) summary
      cl02567
      Location:59198
      Blast Score: 236
      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: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000011.9 Reference GRCh37.p5 Primary Assembly

      Range
      46417964..46612914, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000143.1 Alternate HuRef

      Range
      46124699..46319406, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC024293.18 (19580..48151) None
    genomic AC115097.6 None
    genomic AC116021.5 (162923..167756) None
    genomic AC127035.6 None
    genomic CH471064.2 EAW67996.1
      EAW67997.1
      EAW67998.1
      EAW67999.1
      EAW68000.1
      EAW68001.1
      EAW68002.1
    mRNA AB051523.1 BAB21827.1
    mRNA AK000301.1 BAA91067.1
    mRNA AK023197.1 BAB14457.1
    mRNA AK057896.1 None
    mRNA AK302808.1 BAG64009.1
    mRNA AK304530.1 BAG65331.1
    mRNA AL137611.1 None
    mRNA AL834190.1 None
    mRNA BC045609.1 AAH45609.1
    mRNA CA389399.1 None
    mRNA DQ870924.1 ABI74670.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C0C7.2 GenPept UniProtKB/Swiss-Prot:Q9C0C7

      Supplemental Content

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