Aliases for AMBRA1 Gene

Aliases for AMBRA1 Gene

  • Autophagy And Beclin 1 Regulator 1 2 3 5
  • Activating Molecule In BECN1-Regulated Autophagy Protein 1 3 4
  • DDB1 And CUL4 Associated Factor 3 2 3
  • Autophagy/Beclin-1 Regulator 1 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
  • GC11M047920
  • GC11M055789
  • GC11M055995
  • GC11M050777
  • GC11M051572
  • GC11M052234
  • GC11M052894
  • GC11M053562
  • GC11M054228
  • GC11M054894
  • GC11M055591

Summaries for AMBRA1 Gene

GeneCards Summary for AMBRA1 Gene

AMBRA1 (Autophagy And Beclin 1 Regulator 1) is a Protein Coding gene. Diseases associated with AMBRA1 include Gastric Tubular Adenocarcinoma and Selective Immunoglobulin Deficiency Disease. Among its related pathways are Cellular Senescence (REACTOME) and Autophagy Pathway. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for AMBRA1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMBRA1 Gene

Genomics for AMBRA1 Gene

GeneHancer (GH) Regulatory Elements for AMBRA1 Gene

Promoters and enhancers for AMBRA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMBRA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AMBRA1 gene promoter:
  • C/EBPalpha
  • HFH-1
  • LyF-1
  • Pax-5
  • POU6F1 (c2)
  • PPAR-gamma1
  • PPAR-gamma2
  • S8
  • SRY

Genomic Locations for AMBRA1 Gene

Genomic Locations for AMBRA1 Gene
chr11:46,396,412-46,594,125
(GRCh38/hg38)
Size:
197,714 bases
Orientation:
Minus strand
chr11:46,417,964-46,615,675
(GRCh37/hg19)
Size:
197,712 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 Lys175
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AMBRA1 Gene

Domains & Families for AMBRA1 Gene

Suggested Antigen Peptide Sequences for AMBRA1 Gene

GenScript: Design optimal peptide antigens:
  • Activating molecule in BECN1-regulated autophagy protein 1 (AMRA1_HUMAN)
genes like me logo Genes that share domains with AMBRA1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for AMBRA1 Gene

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).

Phenotypes From GWAS Catalog for AMBRA1 Gene

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
GO:0051020 GTPase binding IPI 25891078
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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMBRA1 gene
Compartment Confidence
cytoskeleton 4
mitochondrion 4
cytosol 4
nucleus 2
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Vesicles (2)
See all subcellular structures

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,IDA --
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

2 Reactome pathways for AMBRA1 Gene
2 KEGG pathways for AMBRA1 Gene
1 R&D Systems pathway for AMBRA1 Gene
1 Cell Signaling Technology pathway for AMBRA1 Gene
1 GeneTex 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:0000045 autophagosome assembly IMP 25215947
GO:0000422 autophagy of mitochondrion IGI 25215947
GO:0000423 mitophagy IMP 25215947
GO:0006914 autophagy IBA 21873635
GO:0007275 multicellular organism development 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

CRISPR Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for AMBRA1 Gene

  • Nervous system(4.8)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with AMBRA1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 32
  • 99.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AMBRA1 33 32
  • 93.18 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ambra1 17 33 32
  • 91.45 (n)
rat
(Rattus norvegicus)
Mammalia Ambra1 32
  • 91.4 (n)
cow
(Bos Taurus)
Mammalia AMBRA1 33 32
  • 90.93 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMBRA1 33
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMBRA1 33
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMBRA1 33 32
  • 79.49 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMBRA1 33
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ambra1 32
  • 72.69 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14512 32
zebrafish
(Danio rerio)
Actinopterygii AMBRA1 (1 of 2) 33
  • 61 (a)
OneToMany
ambra1 32
  • 59.71 (n)
ambra1b 33
  • 55 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AMBRA1: view image

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 Variation AA Info Type
rs1000038380 -- 46,563,382(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000045631 -- 46,490,771(-) C/T intron_variant
rs1000051440 -- 46,417,193(-) A/T genic_downstream_transcript_variant, intron_variant
rs1000053473 -- 46,450,549(-) CCC/ intron_variant
rs1000057215 -- 46,588,332(-) AAAAAAAA/AAAAAAAAA genic_upstream_transcript_variant, intron_variant, upstream_transcript_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)

Additional Variant Information for AMBRA1 Gene

Human Gene Mutation Database (HGMD)
AMBRA1
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

MalaCards: The human disease database

(2) MalaCards diseases for AMBRA1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
gastric tubular adenocarcinoma
  • tubular adenocarcinoma of stomach
selective immunoglobulin deficiency disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for AMBRA1

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

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

Publications for AMBRA1 Gene

  1. Ambra1 regulates autophagy and development of the nervous system. (PMID: 17589504) Fimia GM … Cecconi F (Nature 2007) 2 3 4 56
  2. Beclin 2 functions in autophagy, degradation of G protein-coupled receptors, and metabolism. (PMID: 23954414) He C … Levine B (Cell 2013) 3 4 56
  3. A novel role for autophagy in neurodevelopment. (PMID: 17622796) Cecconi F … Piacentini M (Autophagy 2007) 2 3 56
  4. Autophagy: a new regulator of development. (PMID: 17603510) Le Bot N (Nature cell biology 2007) 2 3 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for AMBRA1 Gene

Sources for AMBRA1 Gene