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

Gene ID: 55626, updated on 12-Aug-2018

Summary

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

Genomic context

See AMBRA1 in Genome Data Viewer
Location:
11p11.2
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

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 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
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
 

General protein information

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

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_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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006718260.3XP_006718323.1  activating molecule in BECN1-regulated autophagy protein 1 isoform X4

    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_005253014.4XP_005253071.1  activating molecule in BECN1-regulated autophagy protein 1 isoform X3

    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_005253011.4XP_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
    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. XM_005253009.4XP_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 (2) summary
    sd00039
    Location:5692
    7WD40; WD40 repeat [structural motif]
    cl25539
    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_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 (2) summary
    sd00039
    Location:5692
    7WD40; WD40 repeat [structural motif]
    cl25539
    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_024448605.1XP_024304373.1  activating molecule in BECN1-regulated autophagy protein 1 isoform X1

    Conserved Domains (2) summary
    sd00039
    Location:5692
    7WD40; WD40 repeat [structural motif]
    cl25539
    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_024448606.1XP_024304374.1  activating molecule in BECN1-regulated autophagy protein 1 isoform X5

    Conserved Domains (2) summary
    sd00039
    Location:5692
    7WD40; WD40 repeat [structural motif]
    cl25539
    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_002957153.1 RNA Sequence

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