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Aliases for AMBRA1 Gene

Aliases for AMBRA1 Gene

  • Autophagy And Beclin 1 Regulator 1 2 3 5
  • DDB1 And CUL4 Associated Factor 3 2 3
  • Autophagy/Beclin-1 Regulator 1 2 3
  • WD Repeat Domain 94 2 3
  • Activating Molecule In BECN1-Regulated Autophagy Protein 1 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
  • GC11M047920
  • GC11M050777
  • GC11M051572

Summaries for AMBRA1 Gene

GeneCards Summary for AMBRA1 Gene

AMBRA1 (Autophagy And Beclin 1 Regulator 1) is a Protein Coding gene. Among its related pathways are Cellular Senescence and Neuroscience. 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

Enhancers for AMBRA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F046564 0.6 ENCODE 13.4 +29.3 29341 0.9 JUN ZMYM3 JUNB ZNF384 JUND HDAC2 NCOR1 KDM1A FOS MAFK AMBRA1 HARBI1 ATG13 MDK DGKZ ARHGAP1 MIR3160-1
GH11F046559 0.7 Ensembl ENCODE 13.4 +33.2 33207 3.4 HDGF KLF1 IRF2 PKNOX1 ZNF366 STAT2 ADNP PRDM10 ZNF600 STAT1 ATG13 AMBRA1 HARBI1 CHRM4 MDK DGKZ MIR3160-1
GH11F046552 0.9 Ensembl ENCODE 12.7 +38.5 38530 5.6 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 SLC30A9 FOS SP5 ATG13 AMBRA1 HARBI1 CHRM4 MDK DGKZ C11orf49 ZNF408 MIR3160-1
GH11F046537 0.6 ENCODE 12 +56.7 56740 0.2 CTCF KLF1 RAD21 CHRM4 AMBRA1 MDK DGKZ ATG13 HARBI1 MIR3160-1
GH11F046538 0.4 ENCODE 12 +56.1 56110 0.2 HDGF CBX3 KLF17 ARID4B ZNF48 ZNF2 RAD21 SCRT2 ZNF143 ZNF391 CHRM4 AMBRA1 MDK DGKZ ATG13 HARBI1 MIR3160-1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AMBRA1 on UCSC Golden Path with GeneCards custom track

Promoters for AMBRA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000188574 625 2201 PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A ZNF2 YY1 SLC30A9 CBX5

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

Genes around AMBRA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMBRA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for AMBRA1 Gene

  • Ubiquitination at Lys 175
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AMBRA1 (AMBRA1)
  • Abcam antibodies for AMBRA1
  • Santa Cruz Biotechnology (SCBT) Antibodies for AMBRA1

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
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

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 5
mitochondrion 5
vacuole 4
lysosome 2
nucleus 2
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 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 GeneTex pathway for AMBRA1 Gene
1 Cell Signaling Technology pathway for AMBRA1 Gene
1 BioSystems pathway for AMBRA1 Gene
2 Reactome pathways for AMBRA1 Gene
1 R&D Systems pathway for AMBRA1 Gene

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 IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0008285 negative regulation of cell proliferation IEA --
GO:0009267 cellular response to starvation 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:

Inhibitory RNA 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

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, MaxQB, and MOPED for AMBRA1 Gene



Protein tissue co-expression partners for AMBRA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AMBRA1 Gene:

AMBRA1

SOURCE GeneReport for Unigene cluster for AMBRA1 Gene:

Hs.654644
genes like me logo Genes that share expression patterns with AMBRA1: view

Primer 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 34 35
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia AMBRA1 34 35
  • 93.18 (n)
mouse
(Mus musculus)
Mammalia Ambra1 34 16 35
  • 91.45 (n)
rat
(Rattus norvegicus)
Mammalia Ambra1 34
  • 91.4 (n)
cow
(Bos Taurus)
Mammalia AMBRA1 34 35
  • 90.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AMBRA1 35
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMBRA1 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMBRA1 34 35
  • 79.49 (n)
lizard
(Anolis carolinensis)
Reptilia AMBRA1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ambra1 34
  • 72.69 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14512 34
zebrafish
(Danio rerio)
Actinopterygii AMBRA1 (1 of 2) 35
  • 61 (a)
OneToMany
ambra1 34
  • 59.71 (n)
ambra1b 35
  • 55 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToOne
Species where no ortholog for AMBRA1 was found in the sources mined by GeneCards:
  • 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
rs10160701 -- 46,530,368(+) CTGCA(C/T)TGGGA intron-variant
rs1052395 -- 46,428,752(-) GTGCC(A/C)CCTGG intron-variant
rs10546476 -- 46,418,319(+) TTATT(-/TA)TATAT intron-variant
rs10636730 -- 46,418,344(+) TTATT(-/TA)TATAT intron-variant
rs10639461 -- 46,401,263(+) TTCGA(-/GAC)GACAG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2658413 CNV deletion 23128226
esv3579502 CNV loss 25503493
esv3626183 CNV gain 21293372
esv3626185 CNV loss 21293372
esv3626186 CNV loss 21293372
esv3626187 CNV loss 21293372
esv3626188 CNV loss 21293372
esv3626189 CNV loss 21293372
esv3626190 CNV gain 21293372
nsv309 CNV deletion 18451855
nsv477325 CNV novel sequence insertion 20440878
nsv554201 CNV loss 21841781
nsv554202 CNV loss 21841781
nsv825867 CNV gain 20364138
nsv972006 CNV duplication 23825009

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

No disorders were found for AMBRA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 64
  2. Beclin 2 functions in autophagy, degradation of G protein-coupled receptors, and metabolism. (PMID: 23954414) He C. … Levine B. (Cell 2013) 3 4 64
  3. Autophagy: a new regulator of development. (PMID: 17603510) Le Bot N. (Nat. Cell Biol. 2007) 2 3 64
  4. A novel role for autophagy in neurodevelopment. (PMID: 17622796) Cecconi F. … Piacentini M. (Autophagy 2007) 2 3 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for AMBRA1 Gene

Sources for AMBRA1 Gene

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