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Aliases for AMBRA1 Gene

Aliases for AMBRA1 Gene

  • Autophagy/Beclin-1 Regulator 1 2 3
  • DDB1 And CUL4 Associated Factor 3 2 3
  • WD Repeat Domain 94 2 3
  • Activating Molecule In Beclin-1-Regulated Autophagy 3
  • KIAA1736 4
  • DCAF3 3
  • WDR94 3

External Ids for AMBRA1 Gene

Previous GeneCards Identifiers for AMBRA1 Gene

  • GC11M046375
  • GC11M046124
  • GC11M046417
  • GC11M047074

Summaries for AMBRA1 Gene

GeneCards Summary for AMBRA1 Gene

AMBRA1 (Autophagy/Beclin-1 Regulator 1) is a Protein Coding gene. Among its related pathways are Cellular Senescence and Senescence and Autophagy. GO annotations related to this gene include ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot for AMBRA1 Gene

  • Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMBRA1 Gene

Genomics for AMBRA1 Gene

Regulatory Elements for AMBRA1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AMBRA1 Gene

Chromosome:
11
Start:
46,396,412 bp from pter
End:
46,594,125 bp from pter
Size:
197,714 bases
Orientation:
Minus strand

Genomic View for AMBRA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AMBRA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMBRA1 Gene

Proteins for AMBRA1 Gene

  • Protein details for AMBRA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0C7-AMRA1_HUMAN
    Recommended name:
    Activating molecule in BECN1-regulated autophagy protein 1
    Protein Accession:
    Q9C0C7
    Secondary Accessions:
    • A6XN33
    • D3DQP8
    • G3V193
    • Q86XD6
    • Q9H8Z0
    • Q9NXE7

    Protein attributes for AMBRA1 Gene

    Size:
    1298 amino acids
    Molecular mass:
    142507 Da
    Quaternary structure:
    • Interacts with BECN1. Probably forms a complex with BECN1 and PIK3C3 (By similarity). Interacts with BECN2.
    SequenceCaution:
    • Sequence=BAA91067.1; Type=Frameshift; Positions=682; Evidence={ECO:0000305}; Sequence=BAB14457.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB21827.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AMBRA1 Gene

neXtProt entry for AMBRA1 Gene

Proteomics data for AMBRA1 Gene at MOPED

Post-translational modifications for AMBRA1 Gene

  • Ubiquitination at Lys 175
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for AMBRA1 Gene

Domains & Families for AMBRA1 Gene

Protein Domains for AMBRA1 Gene

Suggested Antigen Peptide Sequences for AMBRA1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9C0C7

UniProtKB/Swiss-Prot:

AMRA1_HUMAN :
  • Contains 3 WD repeats.
Similarity:
  • Contains 3 WD repeats.
genes like me logo Genes that share domains with AMBRA1: view

Function for AMBRA1 Gene

Molecular function for AMBRA1 Gene

UniProtKB/Swiss-Prot Function:
Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation (By similarity).

Gene Ontology (GO) - Molecular Function for AMBRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20562859
GO:0031625 ubiquitin protein ligase binding IPI 21753002
genes like me logo Genes that share ontologies with AMBRA1: view

Phenotypes for AMBRA1 Gene

genes like me logo Genes that share phenotypes with AMBRA1: view

Animal Model Products

miRNA for AMBRA1 Gene

miRTarBase miRNAs that target AMBRA1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AMBRA1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for AMBRA1 Gene

Localization for AMBRA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMBRA1 Gene

Cytoplasmic vesicle, autophagosome. Note=Localizes also to discrete punctae along the ciliary axoneme. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMBRA1 Gene COMPARTMENTS Subcellular localization image for AMBRA1 gene
Compartment Confidence
cytosol 4
mitochondrion 4
vacuole 3
lysosome 1

Gene Ontology (GO) - Cellular Components for AMBRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 17589504
GO:0005739 colocalizes_with mitochondrion IDA 21753002
GO:0005741 mitochondrial outer membrane NAS 25215947
GO:0005776 autophagosome IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AMBRA1: view

Pathways & Interactions for AMBRA1 Gene

genes like me logo Genes that share pathways with AMBRA1: view

Pathways by source for AMBRA1 Gene

1 BioSystems pathway for AMBRA1 Gene
2 Reactome pathways for AMBRA1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for AMBRA1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for AMBRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IBA --
GO:0008285 negative regulation of cell proliferation IEA --
GO:0016236 macroautophagy TAS --
GO:0021915 neural tube development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with AMBRA1: view

Drugs & Compounds for AMBRA1 Gene

No Compound Related Data Available

Transcripts for AMBRA1 Gene

Unigene Clusters for AMBRA1 Gene

Autophagy/beclin-1 regulator 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AMBRA1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AMBRA1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^
SP1: - -
SP2: - - - -
SP3: - - - -
SP4:
SP5: -
SP6: - -

ExUns: 22a · 22b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for AMBRA1 Gene

GeneLoc Exon Structure for
AMBRA1
ECgene alternative splicing isoforms for
AMBRA1

Expression for AMBRA1 Gene

mRNA expression in normal human tissues for AMBRA1 Gene

Protein differential expression in normal tissues from HIPED for AMBRA1 Gene

This gene is overexpressed in Tlymphocyte (23.4), Testis (21.1), and Heart (16.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AMBRA1 Gene



SOURCE GeneReport for Unigene cluster for AMBRA1 Gene Hs.654644

genes like me logo Genes that share expression patterns with AMBRA1: view

Protein tissue co-expression partners for AMBRA1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AMBRA1 Gene

Orthologs for AMBRA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AMBRA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AMBRA1 35
  • 90.93 (n)
  • 94.27 (a)
AMBRA1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMBRA1 35
  • 93.18 (n)
  • 96.2 (a)
AMBRA1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ambra1 35
  • 91.45 (n)
  • 95.55 (a)
Ambra1 16
Ambra1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AMBRA1 35
  • 99.72 (n)
  • 99.92 (a)
AMBRA1 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ambra1 35
  • 91.4 (n)
  • 95.8 (a)
oppossum
(Monodelphis domestica)
Mammalia AMBRA1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMBRA1 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMBRA1 35
  • 79.49 (n)
  • 85.87 (a)
AMBRA1 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMBRA1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ambra1 35
  • 72.69 (n)
  • 80 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14512 35
zebrafish
(Danio rerio)
Actinopterygii ambra1 35
  • 59.71 (n)
  • 58.92 (a)
AMBRA1 (1 of 2) 36
  • 61 (a)
OneToMany
ambra1b 36
  • 55 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToOne
Species with no ortholog for AMBRA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AMBRA1 Gene

ENSEMBL:
Gene Tree for AMBRA1 (if available)
TreeFam:
Gene Tree for AMBRA1 (if available)

Paralogs for AMBRA1 Gene

No data available for Paralogs for AMBRA1 Gene

Variants for AMBRA1 Gene

Sequence variations from dbSNP and Humsavar for AMBRA1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs13264 -- 46,428,743(-) GGTGC(C/T)GACAA intron-variant
rs14196 -- 46,428,777(-) CAGNG(A/G)TACCT intron-variant
rs713120 -- 46,529,050(-) ATTGT(A/G)ATAAT intron-variant
rs756343 -- 46,528,726(-) TAAAA(G/T)TGTAC intron-variant
rs870242 -- 46,496,432(+) CATCA(C/T)GGGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AMBRA1 Gene

Variant ID Type Subtype PubMed ID
nsv825867 CNV Gain 20364138
nsv309 CNV Loss 18451855
nsv897321 CNV Gain 21882294
esv2658413 CNV Deletion 23128226

Variation tolerance for AMBRA1 Gene

Residual Variation Intolerance Score: 4.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.56; 44.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AMBRA1 Gene

HapMap Linkage Disequilibrium report
AMBRA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMBRA1 Gene

Disorders for AMBRA1 Gene

Relevant External Links for AMBRA1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMBRA1
genes like me logo Genes that share disorders with AMBRA1: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AMBRA1 Gene

Publications for AMBRA1 Gene

  1. Autophagy: a new regulator of development. (PMID: 17603510) Le Bot N. (Nat. Cell Biol. 2007) 2 67
  2. A novel role for autophagy in neurodevelopment. (PMID: 17622796) Cecconi F. … Piacentini M. (Autophagy 2007) 2 67
  3. Ambra1 regulates autophagy and development of the nervous system. (PMID: 17589504) Maria Fimia G. … Cecconi F. (Nature 2007) 2 67
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  5. AMBRA1 is able to induce mitophagy via LC3 binding, regardless of PARKIN and p62/SQSTM1. (PMID: 25215947) Strappazzon F. … Cecconi F. (Cell Death Differ. 2015) 67

Products for AMBRA1 Gene

Sources for AMBRA1 Gene

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