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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
  • KIAA1736 4 6
  • Activating Molecule In BECN1-Regulated Autophagy Protein 1 3
  • Activating Molecule In Beclin-1-Regulated Autophagy 3
  • DCAF3 3
  • WDR94 3

External Ids for AMBRA1 Gene

Previous GeneCards Identifiers for AMBRA1 Gene

  • GC11M046375
  • GC11M046124
  • GC11M046417

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 Neuroscience and Senescence and Autophagy.

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

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 Lys175
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for AMBRA1 Gene

Domains for AMBRA1 Gene

Gene Families for AMBRA1 Gene

HGNC:
  • DCAF :DDB1 and CUL4 associated factors
  • WDR :WD repeat domain containing

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 :
  • Q9C0C7
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
genes like me logo Genes that share phenotypes with AMBRA1: view

Animal Model Products

CRISPR 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 Targeting 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
nucleus 2
vacuole 2
cytosol 1
endoplasmic reticulum 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 autophagic vacuole IEA --
GO:0005829 cytosol IDA 21753002
genes like me logo Genes that share ontologies with AMBRA1: view

Pathways for AMBRA1 Gene

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

Pathways by source for AMBRA1 Gene

1 Cell Signaling Technology pathway for AMBRA1 Gene
1 BioSystems pathway for AMBRA1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0021915 neural tube development IEA --
GO:0030154 cell differentiation IEA --
GO:0043524 negative regulation of neuron apoptotic process IEA --
genes like me logo Genes that share ontologies with AMBRA1: view

Transcripts for AMBRA1 Gene

Unigene Clusters for AMBRA1 Gene

Autophagy/beclin-1 regulator 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Primer Products

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

Integrated Proteomics: protein expression 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 expressions with AMBRA1: view

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
chimpanzee
(Pan troglodytes)
Mammalia AMBRA1 35
  • 99.72 (n)
  • 99.92 (a)
AMBRA1 36
  • 93 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia AMBRA1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMBRA1 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ambra1 35
  • 91.4 (n)
  • 95.8 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.14512 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ambra1 35
  • 72.69 (n)
  • 80 (a)
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
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
rs901997 -- 46,505,354(+) CTGTA(G/T)AGGGA 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

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

No disorders were found for AMBRA1 Gene.

No data available for UniProtKB/Swiss-Prot for AMBRA1 Gene

Publications for AMBRA1 Gene

  1. Ambra1 regulates autophagy and development of the nervous system. (PMID: 17589504) Maria Fimia G. … Cecconi F. (Nature 2007) 2 3 4
  2. Autophagy: a new regulator of development. (PMID: 17603510) Le Bot N. (Nat. Cell Biol. 2007) 2 3
  3. A novel role for autophagy in neurodevelopment. (PMID: 17622796) Cecconi F. … Piacentini M. (Autophagy 2007) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 3 4

Products for AMBRA1 Gene

  • antibodies-online peptides for AMBRA1
  • antibodies-online antibodies for AMBRA1
  • antibodies-online kits for AMBRA1

Sources for AMBRA1 Gene

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