Format

Send to:

Choose Destination
    • Showing Current items.

    AMBRA1 autophagy and beclin 1 regulator 1 [ Homo sapiens (human) ]

    Gene ID: 55626, updated on 4-Feb-2018
    Official Symbol
    AMBRA1provided by HGNC
    Official Full Name
    autophagy and beclin 1 regulator 1provided by HGNC
    Primary source
    HGNC:HGNC:25990
    See related
    Ensembl:ENSG00000110497 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
    Expression
    Ubiquitous expression in testis (RPKM 5.9), brain (RPKM 5.4) and 25 other tissues See more
    Orthologs
    Location:
    11p11.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (46396412..46594069, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (46417962..46615619, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cholinergic receptor muscarinic 4 Neighboring gene midkine 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 autophagy related 13 Neighboring gene Rho GTPase activating protein 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif is identified to have a physical interaction with autophagy/beclin-1 regulator 1 (AMBRA1) in human HEK293 and/or Jurkat cell lines PubMed

    Go to the HIV-1, Human Interaction Database

    • 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 biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • Macroautophagy, organism-specific biosystem (from REACTOME)
      Macroautophagy, organism-specific biosystemMacroautophagy (hereafter referred to as autophagy) acts as a buffer against starvation by liberating building materials and energy sources from cellular components. It has additional roles in embryo...
    • 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...
    • Nanoparticle triggered autophagic cell death, organism-specific biosystem (from WikiPathways)
      Nanoparticle triggered autophagic cell death, organism-specific biosystemProgrammed cell death: autophagic cell death. Autophagy (self-eating) is a survival mechanism deployed by cells to cope with conditions of nutrient deprivation. However, unrestrained autophagy can re...
    • Senescence and Autophagy in Cancer, organism-specific biosystem (from WikiPathways)
      Senescence and Autophagy in Cancer, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20294, KIAA1736, MGC33725

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    autophagy of mitochondrion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to starvation IEA
    Inferred from Electronic Annotation
    more info
     
    macroautophagy TAS
    Traceable Author Statement
    more info
     
    mitophagy IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cardiac muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    neural tube development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of phosphatidylinositol 3-kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to mitochondrial depolarisation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to mitochondrial depolarisation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    autophagosome IEA
    Inferred from Electronic Annotation
    more info
     
    axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    mitochondrial outer membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    phagocytic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    activating molecule in BECN1-regulated autophagy protein 1
    Names
    DDB1 and CUL4 associated factor 3
    WD repeat domain 94
    activating molecule in beclin-1-regulated autophagy
    autophagy/beclin-1 regulator 1

    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_001267782.1NP_001254711.1  activating molecule in BECN1-regulated autophagy protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001254711.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC115097, AK000301, BC045609, BF589843, DB070055
      UniProtKB/Swiss-Prot
      Q9C0C7
      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_001267783.1NP_001254712.1  activating molecule in BECN1-regulated autophagy protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001254712.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AL834190, BF589843, DB070055, DQ870924
      Consensus CDS
      CCDS58132.1
      UniProtKB/Swiss-Prot
      Q9C0C7
      UniProtKB/TrEMBL
      A0A075B6T1
      Related
      ENSP00000433372.1, OTTHUMP00000233090, ENST00000533727.5, OTTHUMT00000390100
      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 ...
    3. NM_001300731.1NP_001287660.1  activating molecule in BECN1-regulated autophagy protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001287660.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) retains an alternate in-frame intron and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) contains an alternate internal segment and lacks two other alternate internal segments compared to isoform 1.
      Source sequence(s)
      AB051523, BF589843, DB070055
      Consensus CDS
      CCDS73281.1
      UniProtKB/Swiss-Prot
      Q9C0C7
      Related
      ENSP00000431926.1, OTTHUMP00000233091, ENST00000534300.5, OTTHUMT00000390102
      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 ...
    4. NM_017749.3NP_060219.2  activating molecule in BECN1-regulated autophagy protein 1 isoform 2

      See identical proteins and their annotated locations for NP_060219.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK023197, BC045609, BF589843, DB232750
      Consensus CDS
      CCDS31475.1
      UniProtKB/Swiss-Prot
      Q9C0C7
      Related
      ENSP00000318313.3, OTTHUMP00000233089, ENST00000314845.7, OTTHUMT00000390099
      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: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      46396412..46594069 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718260.2XP_006718323.1  activating molecule in BECN1-regulated autophagy protein 1 isoform X5

      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_005253014.3XP_005253071.1  activating molecule in BECN1-regulated autophagy protein 1 isoform X4

      See identical proteins and their annotated locations for XP_005253071.1

      UniProtKB/Swiss-Prot
      Q9C0C7
      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 ...
    3. XM_017018007.1XP_016873496.1  activating molecule in BECN1-regulated autophagy protein 1 isoform X3

    4. XM_005253011.3XP_005253068.1  activating molecule in BECN1-regulated autophagy protein 1 isoform X2

      See identical proteins and their annotated locations for XP_005253068.1

      UniProtKB/Swiss-Prot
      Q9C0C7
      Related
      ENSP00000433945.1, OTTHUMP00000233133, ENST00000528950.1, OTTHUMT00000390154
      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 ...
    5. XM_005253009.3XP_005253066.1  activating molecule in BECN1-regulated autophagy protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005253066.1

      UniProtKB/Swiss-Prot
      Q9C0C7
      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 ...
    6. XM_006718259.2XP_006718322.1  activating molecule in BECN1-regulated autophagy protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006718322.1

      UniProtKB/Swiss-Prot
      Q9C0C7
      Related
      ENSP00000415327.2, OTTHUMP00000233092, ENST00000458649.6, OTTHUMT00000390103
      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 ...
    7. XM_017018008.1XP_016873497.1  activating molecule in BECN1-regulated autophagy protein 1 isoform X6

      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 ...

    RNA

    1. XR_001747923.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      46416414..46614031 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center