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Aliases for AMBRA1 Gene
Aliases for AMBRA1 Gene
External Ids for AMBRA1 Gene
- HGNC: 25990
- Entrez Gene: 55626
- Ensembl: ENSG00000110497
- OMIM: 611359
- UniProtKB: Q9C0C7
Previous GeneCards Identifiers for AMBRA1 Gene
- GC11M046375
- GC11M046124
- GC11M046417
- GC11M047074
- GC11M047920
- GC11M055789
- GC11M055995
- GC11M056148
- GC11M059670
- 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 Vici Syndrome and Gastric Tubular Adenocarcinoma. Among its related pathways are Neuroscience and Spinocerebellar ataxia. 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
- HGNC(25990)
- Entrez Gene(55626)
- Ensembl(ENSG00000110497)
- OMIM(611359)
- UniProtKB(Q9C0C7)
- Open Targets Platform(ENSG00000110497)
- Monarch Initiative
- Search for AMBRA1 at DataMed
- Search for AMBRA1 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMBRA1
- 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:
-
- 11p11.2 by HGNC
- 11p11.2 by Entrez Gene
- 11p11.2 by Ensembl
AMBRA1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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; Evidence={ECO:0000305}; Sequence=BAB14457.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB21827.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for AMBRA1 Gene
Post-translational modifications for AMBRA1 Gene
Other Protein References for AMBRA1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences AMBRA1 Antibody (LS-B3224) and AMBRA1 Antibody (LS-B7940)
- G Biosciences Immunotag™ AMBRA1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for AMBRA1
- Novus Biologicals Antibodies for AMBRA1
-
Abcam antibodies for AMBRA1
- Invitrogen Antibodies for AMBRA1 (AFLGC-AMBRA1)
-
Boster Bio Antibodies for AMBRA1
-
Custom Antibody ServicesProSci Antibodies for AMBRA1
-
Santa Cruz Biotechnology (SCBT) Antibodies for AMBRA1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for AMBRA1
- Origene Custom Protein Services for AMBRA1
- antibodies-online: Show 3 available AMBRA1 Proteins ranked by validation data
- Compare Top AMBRA1 Proteins
-
Quality Products:
-
Signalway Proteins for AMBRA1
No data available for DME Specific Peptides for AMBRA1 Gene
Domains & Families for AMBRA1 Gene
Gene Families for AMBRA1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for AMBRA1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for AMBRA1 Gene
- GenScript: Design optimal peptide antigens:
-
- Activating molecule in BECN1-regulated autophagy protein 1 (AMRA1_HUMAN)
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
| 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 |
Phenotypes for AMBRA1 Gene
- MGI mutant phenotypes for AMBRA1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for AMBRA1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AMBRA1 - Select products 50% OFF >
- * AMBRA1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene CRISPR knockouts for AMBRA1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AMBRA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for AMBRA1
miRNA for AMBRA1 Gene
- miRTarBase miRNAs that target AMBRA1
-
- mmu-miR-9-5p (MIRT015321)
- hsa-miR-339-5p (MIRT042802)
- hsa-miR-331-3p (MIRT043533)
- hsa-miR-186-5p (MIRT045188)
- hsa-miR-1231 (MIRT736201)
- hsa-miR-1299 (MIRT737240)
- hsa-miR-1343-3p (MIRT737423)
- hsa-miR-208a-3p (MIRT738855)
- hsa-miR-208b-3p (MIRT738861)
- hsa-miR-23a-5p (MIRT739186)
- hsa-miR-23b-5p (MIRT739196)
- hsa-miR-24-3p (MIRT739219)
- hsa-miR-3202 (MIRT741128)
- hsa-miR-3689d (MIRT742449)
- hsa-miR-3928-5p (MIRT743055)
- hsa-miR-3929 (MIRT743060)
- hsa-miR-4419b (MIRT744227)
- hsa-miR-4478 (MIRT745066)
- hsa-miR-4533 (MIRT745996)
- hsa-miR-485-5p (MIRT749055)
- hsa-miR-555 (MIRT750892)
- hsa-miR-571 (MIRT751396)
- hsa-miR-6128 (MIRT752142)
- hsa-miR-6134 (MIRT752409)
- hsa-miR-6515-5p (MIRT753278)
- hsa-miR-6758-5p (MIRT754862)
- hsa-miR-6776-5p (MIRT755361)
- hsa-miR-6783-3p (MIRT755720)
- hsa-miR-6796-3p (MIRT756148)
- hsa-miR-6806-3p (MIRT756493)
- hsa-miR-6851-5p (MIRT757572)
- hsa-miR-6856-5p (MIRT757708)
- hsa-miR-6861-5p (MIRT757872)
- hsa-miR-6881-5p (MIRT758347)
- hsa-miR-6884-5p (MIRT758497)
- hsa-miR-759 (MIRT759406)
- hsa-miR-875-3p (MIRT760347)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AMBRA1
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Clone Products
- Applied Biological Materials (abm): Clones for AMBRA1 - Select products 50% OFF >
- * AMBRA1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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-
- MG215908
- MG217481
- MR215908
- MR215908L1
- MR215908L2
- MR215908L3
- MR215908L4
- MR217481
- MR217481L3
- MR217481L4
- RC206255
- RC206255L1
- RC206255L2
- RC206255L3
- RC206255L4
- RC233205
- RC235258
- RC240070
- RG206255
- RG233205
- RG235258
- RR206199
- MR215908L1V
- MR215908L2V
- MR215908L3V
- MR215908L4V
- MR217481L3V
- MR217481L4V
- RC206255L1V
- RC206255L2V
- RC206255L3V
- RC206255L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AMBRA1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AMBRA1
Cell Line Products
-
Horizon Cell Lines for AMBRA1
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}.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 5 |
| cytoskeleton | 4 |
| nucleus | 3 |
| lysosome | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| golgi apparatus | 2 |
- Mitochondria (2)
- Vesicles (2)
| 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 | IDA,TAS | -- |
Pathways & Interactions for AMBRA1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Parkinson disease | ||
| 2 | Neuroscience | ||
| 3 | Autophagy - animal | ||
| 4 | Mitophagy - animal | ||
| 5 | Spinocerebellar ataxia | ||
Pathways by source for AMBRA1 Gene
1 Sino Biological pathway for AMBRA1 Gene
2 BioSystems pathways for AMBRA1 Gene
2 Reactome pathways for AMBRA1 Gene
5 KEGG pathways for AMBRA1 Gene
1 Cell Signaling Technology pathway for AMBRA1 Gene
1 GeneTex pathway for AMBRA1 Gene
Interacting Proteins for AMBRA1 Gene
Selected Interacting proteins:
Q9C0C7-AMRA1_HUMAN
ENSP00000431926
for AMBRA1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for AMBRA1
SIGNOR curated interactions 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 | -- |
Transcripts for AMBRA1 Gene
mRNA/cDNA for AMBRA1 Gene
- 8 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000314845 5023 nts (view in UCSC)
- ENST00000533727 4817 nts (view in UCSC)
- ENST00000534300 5067 nts (view in UCSC)
- ENST00000458649 5351 nts (view in UCSC)
- ENST00000526545 837 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AMBRA1 - Select products 50% OFF >
- * AMBRA1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AMBRA1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AMBRA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for AMBRA1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AMBRA1
- Browse OriGene Inhibitory RNA Products For AMBRA1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMBRA1
Clone Products
- Applied Biological Materials (abm): Clones for AMBRA1 - Select products 50% OFF >
- * AMBRA1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG215908
- MG217481
- MR215908
- MR215908L1
- MR215908L2
- MR215908L3
- MR215908L4
- MR217481
- MR217481L3
- MR217481L4
- RC206255
- RC206255L1
- RC206255L2
- RC206255L3
- RC206255L4
- RC233205
- RC235258
- RC240070
- RG206255
- RG233205
- RG235258
- RR206199
- MR215908L1V
- MR215908L2V
- MR215908L3V
- MR215908L4V
- MR217481L3V
- MR217481L4V
- RC206255L1V
- RC206255L2V
- RC206255L3V
- RC206255L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AMBRA1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AMBRA1
| 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
Expression 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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMBRA1
SOURCE GeneReport for Unigene cluster for AMBRA1 Gene:
Hs.654644Evidence on tissue expression from TISSUES for AMBRA1 Gene
- Nervous system(4.8)
- Liver(4.5)
- Muscle(2.4)
- Intestine(2.3)
- Skin(2.2)
- Kidney(2.2)
- Heart(2.1)
Primer Products
-
OriGene qPCR primer pairs for AMBRA1
-
OriGene qPCR primer pairs and template standards for AMBRA1
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | AMBRA1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | AMBRA1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ambra1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ambra1 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | AMBRA1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | AMBRA1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | AMBRA1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | AMBRA1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | AMBRA1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ambra1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.14512 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | AMBRA1 (1 of 2) 31 |
|
OneToMany | |
| ambra1 30 |
|
||||
| ambra1b 31 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for AMBRA1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMBRA1 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 691340 | Uncertain Significance: Pyloric stenosis; Esophageal atresia | 46,545,724(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 735163 | Benign: not provided | 46,542,715(-) | G/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 779140 | Benign: not provided | 46,542,541(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 787909 | Benign: not provided | 46,434,889(-) | G/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 869202 | Uncertain Significance: Neural tube defect | 46,547,252(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMBRA1 Gene
Disorders for AMBRA1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| vici syndrome |
|
|
| gastric tubular adenocarcinoma |
|
|
| parkinson disease, late-onset |
|
|
Search AMBRA1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for AMBRA1
No data available for UniProtKB/Swiss-Prot and Genatlas for AMBRA1 Gene
Publications for AMBRA1 Gene
- Ambra1 regulates autophagy and development of the nervous system. (PMID: 17589504) Fimia GM … Cecconi F (Nature 2007) 2 3 4
- Beclin 2 functions in autophagy, degradation of G protein-coupled receptors, and metabolism. (PMID: 23954414) He C … Levine B (Cell 2013) 3 4
- A novel role for autophagy in neurodevelopment. (PMID: 17622796) Cecconi F … Piacentini M (Autophagy 2007) 2 3
- Autophagy: a new regulator of development. (PMID: 17603510) Le Bot N (Nature cell biology 2007) 2 3
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for AMBRA1 Gene
- Custom Antibody ServicesOriGene Antibodies for AMBRA1
- Browse OriGene ELISA Kits
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- antibodies-online: Show 34 available AMBRA1 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for AMBRA1
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- Horizon Cell Lines for AMBRA1
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- Boster Bio Antibodies for AMBRA1
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Sources for AMBRA1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (11) Cell Signaling Technology
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- (15) ProtoNet
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
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- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
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- (115) NCBI Bookshelf
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- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
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- (128) SNPedia
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- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
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- (140) HumanCyc
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- (142) EPDnew
- (143) Applied Biosystems
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- (148) RNACentral
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- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
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- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB