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

Gene ID: 55626, updated on 5-Jul-2020

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
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:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (46396412..46594055, 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 diacylglycerol kinase zeta Neighboring gene microRNA 4688 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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 PubChem

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
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_001267782.2NP_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, 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_001267783.2NP_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, DB070055, DQ870924
    Consensus CDS
    CCDS58132.1
    UniProtKB/Swiss-Prot
    Q9C0C7
    UniProtKB/TrEMBL
    A0A075B6T1
    Related
    ENSP00000433372.1, ENST00000533727.5
    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_001300731.2NP_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, DB070055
    Consensus CDS
    CCDS73281.1
    UniProtKB/Swiss-Prot
    Q9C0C7
    Related
    ENSP00000431926.1, ENST00000534300.5
    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_001367468.1NP_001354397.1  activating molecule in BECN1-regulated autophagy protein 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC116021, AC127035, AK302808
    Related
    ENSP00000415327.2, ENST00000458649.6
  5. NM_001367469.1NP_001354398.1  activating molecule in BECN1-regulated autophagy protein 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC024293, AC115097, AC116021, AC127035
  6. NM_001367470.1NP_001354399.1  activating molecule in BECN1-regulated autophagy protein 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC024293, AC115097, AC116021, AC127035
  7. NM_001367471.1NP_001354400.1  activating molecule in BECN1-regulated autophagy protein 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8), as well as variant 2, encodes isoform 2.
    Source sequence(s)
    AC024293, AC115097, AC116021, AC127035
  8. 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. Variants 2 and 8 both encode the same isoform (2).
    Source sequence(s)
    AK023197, BC045609, BF589843, DB232750
    Consensus CDS
    CCDS31475.1
    UniProtKB/Swiss-Prot
    Q9C0C7
    Related
    ENSP00000318313.3, ENST00000314845.7
    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. NR_160027.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC024293, AC115097, AC116021, AC127035

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    46396412..46594055 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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, 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 ...
  2. 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 ...
  3. 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
    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 ...
  4. 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 ...
  5. 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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