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

Gene ID: 55626, updated on 8-May-2016
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 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
Orthologs
Location:
11p11.2
Exon count:
23
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 (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 autophagy related 13 Neighboring gene Rho GTPase activating protein 1

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 by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

  • 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...
  • Senescence and Autophagy, organism-specific biosystem (from WikiPathways)
    Senescence and Autophagy, 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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical 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 (2) summary
    COG2319
    Location:48198
    WD40; WD40 repeat [General function prediction only]
    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, OTTHUMP00000233090, ENST00000533727, OTTHUMT00000390100
    Conserved Domains (2) summary
    COG2319
    Location:48198
    WD40; WD40 repeat [General function prediction only]
    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, OTTHUMP00000233091, ENST00000534300, OTTHUMT00000390102
    Conserved Domains (2) summary
    COG2319
    Location:48198
    WD40; WD40 repeat [General function prediction only]
    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, OTTHUMP00000233089, ENST00000314845, OTTHUMT00000390099
    Conserved Domains (2) summary
    COG2319
    Location:48198
    WD40; WD40 repeat [General function prediction only]
    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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006718260.1XP_006718323.1  

    Conserved Domains (2) summary
    COG2319
    Location:48198
    WD40; WD40 repeat [General function prediction only]
    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_005253014.2XP_005253071.1  

    See identical proteins and their annotated locations for XP_005253071.1

    UniProtKB/Swiss-Prot
    Q9C0C7
    Conserved Domains (2) summary
    COG2319
    Location:48198
    WD40; WD40 repeat [General function prediction only]
    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_005253011.2XP_005253068.1  

    See identical proteins and their annotated locations for XP_005253068.1

    UniProtKB/Swiss-Prot
    Q9C0C7
    Related
    ENSP00000433945, OTTHUMP00000233133, ENST00000528950, OTTHUMT00000390154
    Conserved Domains (2) summary
    COG2319
    Location:48198
    WD40; WD40 repeat [General function prediction only]
    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_005253009.2XP_005253066.1  

    See identical proteins and their annotated locations for XP_005253066.1

    UniProtKB/Swiss-Prot
    Q9C0C7
    Conserved Domains (2) summary
    COG2319
    Location:48198
    WD40; WD40 repeat [General function prediction only]
    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_006718259.1XP_006718322.1  

    See identical proteins and their annotated locations for XP_006718322.1

    UniProtKB/Swiss-Prot
    Q9C0C7
    Related
    ENSP00000415327, OTTHUMP00000233092, ENST00000458649, OTTHUMT00000390103
    Conserved Domains (2) summary
    COG2319
    Location:48198
    WD40; WD40 repeat [General function prediction only]
    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_011520214.1XP_011518516.1  

    Conserved Domains (2) summary
    COG2319
    Location:48198
    WD40; WD40 repeat [General function prediction only]
    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_011520215.1XP_011518517.1  

    Conserved Domains (2) summary
    COG2319
    Location:48198
    WD40; WD40 repeat [General function prediction only]
    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_930878.1 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)