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

Gene ID: 55626, updated on 4-Jan-2025

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; AllianceGenome:HGNC:25990
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
Summary
Enables enzyme binding activity; protein phosphatase activator activity; and ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including macroautophagy; positive regulation of free ubiquitin chain polymerization; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in cytosol. Part of Cul4-RING E3 ubiquitin ligase complex. Is active in cytoskeleton; mitochondrion; and nucleus. Biomarker of multiple system atrophy. [provided by Alliance of Genome Resources, Jan 2025]
Expression
Ubiquitous expression in testis (RPKM 5.9), brain (RPKM 5.4) and 25 other tissues See more
Orthologs
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Genomic context

See AMBRA1 in Genome Data Viewer
Location:
11p11.2
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (46396412..46594023, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (46552487..46750082, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (46417962..46615573, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene diacylglycerol kinase zeta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46401950-46402584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3306 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3307 Neighboring gene Sharpr-MPRA regulatory region 2210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46411613-46412218 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46412219-46412822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3311 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46414340-46415114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3312 Neighboring gene microRNA 4688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46428977-46429764 Neighboring gene cholinergic receptor muscarinic 4 Neighboring gene midkine Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:46448914-46449505 Neighboring gene NANOG hESC enhancer GRCh37_chr11:46467611-46468112 Neighboring gene ribosomal protein S10 pseudogene 19 Neighboring gene microRNA 3160-2 Neighboring gene microRNA 3160-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3313 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:46559175-46559678 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46559679-46560184 Neighboring gene Sharpr-MPRA regulatory region 9650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46587793-46588293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4681 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:46605824-46606668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:46615325-46615825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4683 Neighboring gene Sharpr-MPRA regulatory region 32 Neighboring gene harbinger transposase derived 1 Neighboring gene autophagy related 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46715957-46716456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3314 Neighboring gene Rho GTPase activating protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
EBI GWAS 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 PubChem

Interactions

General gene information

Clone Names

  • FLJ20294, KIAA1736, MGC33725

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in autophagosome assembly  
involved_in autophagosome assembly PubMed 
involved_in autophagosome assembly PubMed 
involved_in cell differentiation  
involved_in cellular response to starvation  
involved_in mitophagy  
involved_in mitophagy PubMed 
involved_in mitophagy PubMed 
involved_in mitophagy PubMed 
involved_in negative regulation of cardiac muscle cell apoptotic process  
involved_in negative regulation of cell population proliferation  
involved_in negative regulation of neuron apoptotic process  
involved_in neural tube development  
involved_in positive regulation of autophagy PubMed 
involved_in positive regulation of autophagy PubMed 
involved_in positive regulation of free ubiquitin chain polymerization PubMed 
involved_in positive regulation of mitophagy PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
involved_in positive regulation of regulatory T cell differentiation PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process PubMed 
involved_in protein polyubiquitination PubMed 
involved_in regulation of G1/S transition of mitotic cell cycle PubMed 
involved_in regulation of transcription by RNA polymerase II  
involved_in response to mitochondrial depolarisation PubMed 
involved_in response to mitochondrial depolarisation PubMed 
Component Evidence Code Pubs
part_of Cul4-RING E3 ubiquitin ligase complex  
part_of Cul4-RING E3 ubiquitin ligase complex PubMed 
located_in autophagosome  
located_in axoneme  
is_active_in cytoplasm PubMed 
located_in cytoplasm PubMed 
is_active_in cytoskeleton PubMed 
located_in cytosol PubMed 
located_in cytosol  
located_in endoplasmic reticulum  
located_in focal adhesion  
is_active_in intracellular membrane-bounded organelle  
located_in mitochondrial outer membrane PubMed 
colocalizes_with mitochondrion PubMed 
is_active_in mitochondrion PubMed 
located_in mitochondrion PubMed 
is_active_in nucleus PubMed 
located_in perinuclear region of cytoplasm PubMed 
located_in phagocytic vesicle  

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)

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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

    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/TrEMBL
    B4DZ97
    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

    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/TrEMBL
    A0A075B6T1, B4DZ97
    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

    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/TrEMBL
    B4DZ97
    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

    Description
    Transcript Variant: This variant (5), as well as variant 10, encodes isoform 5.
    Source sequence(s)
    AC116021, AC127035, AK302808
    Consensus CDS
    CCDS91466.1
    UniProtKB/Swiss-Prot
    A6XN33, D3DQP8, G3V193, Q86XD6, Q9C0C7, Q9H8Z0, Q9NXE7
    UniProtKB/TrEMBL
    B4DZ97
    Related
    ENSP00000415327.2, ENST00000458649.6
    Conserved Domains (2) summary
    sd00039
    Location:5692
    7WD40; WD40 repeat [structural motif]
    cl29593
    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. NM_001367469.1NP_001354398.1  activating molecule in BECN1-regulated autophagy protein 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC024293, AC115097, AC116021, AC127035
    UniProtKB/TrEMBL
    B4DZ97
  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
    Consensus CDS
    CCDS31475.1
    UniProtKB/TrEMBL
    B4DZ97
  8. NM_001387011.1NP_001373940.1  activating molecule in BECN1-regulated autophagy protein 1 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10), as well as variant 5, encodes isoform 5.
    Source sequence(s)
    AC024293, AC115097, AC116021, AC127035
    Consensus CDS
    CCDS91466.1
    UniProtKB/Swiss-Prot
    A6XN33, D3DQP8, G3V193, Q86XD6, Q9C0C7, Q9H8Z0, Q9NXE7
    UniProtKB/TrEMBL
    B4DZ97
    Related
    ENSP00000508322.1, ENST00000683756.1
    Conserved Domains (2) summary
    sd00039
    Location:5692
    7WD40; WD40 repeat [structural motif]
    cl29593
    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 ...
  9. NM_017749.3NP_060219.2  activating molecule in BECN1-regulated autophagy protein 1 isoform 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/TrEMBL
    B4DZ97
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    46396412..46594023 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    46552487..46750082 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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