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Aliases & Descriptionsfor AMBRA1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section Aliases & Descriptions autophagy/beclin-1 regulator 11 2 MGC337252 KIAA17361 2 3 5 WD repeat domain 942 WDR941 2 activating molecule in BECN1-regulated autophagy protein 12 DCAF31 2 activating molecule in beclin-1-regulated autophagy2 FLJ202941 2 DDB1 and CUL4 associated factor 32
Export aliases for AMBRA1 gene to outside databases Previous GC identifer: GC11M046375
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Summariesfor AMBRA1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section UniProtKB/Swiss-Prot: AMRA1_HUMAN, Q9C0C7 Function : Regulates autophagy and development of the nervous system. Involved in autophagy in controlling proteinturnover during neuronal development, and in regulating normal cell survival and proliferation (By similarity)
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Genomic Viewsfor AMBRA1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for AMBRA1 Other transcription factors Search SABiosciences Chromatin IP Primers for AMBRA1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for AMBRA1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 11p11.2 Ensembl cytogenetic band: 11p11.2 HGNC cytogenetic band: 11p11.2 AMBRA1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure
GeneLoc location for GC11M046124: view genomic region
(about GC identifiers )
Start:
46,124,699 bp from pter
End:
46,319,406 bp from pter
Size:
194,708 bases
Orientation:
minus strand
1 alternative location : Chr 11- 46,417,964-46,612,914
RefSeq DNA sequence: NC_000011.9 NT_009237.18
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Proteinsfor AMBRA1 gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
About This Section UniProtKB/Swiss-Prot: AMRA1_HUMAN, Q9C0C7 (See
protein sequence )Recommended Name: Activating molecule in BECN1-regulated autophagy protein 1 Size : 1298 amino acids; 142507 Da
Subunit : Interacts with BECN1. Probably forms a complex with BECN1 and PIK3C3 (By similarity)
Subcellular location : Cytoplasmic vesicle, autophagosome (By similarity)
Sequence caution : Sequence=BAA91067.1; Type=Frameshift; Positions=682; Sequence=BAB14457.1; Type=Erroneous initiation;Sequence=BAB21827.1; Type=Erroneous initiation;
Secondary accessions : A6XN33 Q86XD6 Q9H8Z0 Q9NXE7Alternative splicing : 5 isoforms : Q9C0C7-1 Q9C0C7-2 Q9C0C7-3 Q9C0C7-4 Q9C0C7-5 Explore the universe of human proteins at neXtProt for AMBRA1: NX_Q9C0C7 Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins: NP_060219.2 ENSEMBL proteins: ENSP00000410899 ENSP00000318313 ENSP00000401937 ENSP00000318247 ENSP00000415327 ENSP00000298834 Human Recombinant Proteins 3 Gene Ontology (GO) cellular component terms (GO ID links to tree view) :
About this table
AMBRA1 for ontologies About GeneDecksing Antibodies for AMBRA1: Assays for AMBRA1:
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Protein
Domains/ Familiesfor AMBRA1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
AMBRA1 for domains About GeneDecksing 5/7 InterPro domains/families (see all 7 ):
Graphical View of Domain Structure for InterPro Entry Q9C0C7 ProtoNet protein and cluster: Q9C0C7
UniProtKB/Swiss-Prot: AMRA1_HUMAN, Q9C0C7 Similarity : Contains 3 WD repeats
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Gene Functionfor AMBRA1 gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: AMRA1_HUMAN, Q9C0C7 Function : Regulates autophagy and development of the nervous system. Involved in autophagy in controlling proteinturnover during neuronal development, and in regulating normal cell survival and proliferation (By similarity)
1 Gene Ontology (GO) molecular function term (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005515 protein binding
-- --
About this table
AMBRA1 for ontologies About GeneDecksing Animal Models: 4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Ambra1) :
AMBRA1 for phenotypes About GeneDecksing
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Pathways & Interactionsfor AMBRA1 gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section SABiosciences Pathway-Focused PCR Array including AMBRA1 : PAHS-084A Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AMBRA1 5/8 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 8 ):
GO ID Qualified GO term Evidence PubMed IDs GO:0006914 autophagy
IEA -- GO:0007275 multicellular organismal development
IEA -- GO:0007399 nervous system development
IEA -- GO:0008285 negative regulation of cell proliferation
-- -- GO:0009790 embryo development
-- --
About this table
AMBRA1 for ontologies About GeneDecksing
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Drugs & Compoundsfor AMBRA1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
About This Section Browse Tocris compounds for AMBRA1
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Transcriptsfor AMBRA1 gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for AMBRA1 gene: NM_017749.2
Additional cDNA sequence: AB051523.1 AK000301.1 AK023197.1 AK057896.1 AK302808.1 AK304530.1 AL137611.1 AL834190.1 BC045609.1 CR590663.1 DQ870924.1
16 DOTS entries : DT.100779368 DT.95338415 DT.107951 DT.95165030 DT.100779367 DT.102841099 DT.75108941 DT.120731309
DT.120731310 DT.91890877 DT.100829056 DT.120731190 DT.120731304 DT.40221669 DT.439523 DT.95259299 24/110 AceView cDNA sequences (see all 110 ):
AL137611 CR590663 BU171968 BC045609 CA306509 BU527699 BP353292 CB216101 AK057896 BP352652 AL834190 BU956025 NM_017749 AU159538 BM472696 AI699895 BM904226 AI791940 CB149054 BM699885 BU159882 BU737623 BX281628 AI359466 Unigene Cluster for AMBRA1:
Autophagy/beclin-1 regulator 1 Hs.654644 [show with all ESTs ] Unigene Representative Sequence: AK302808 GeneLoc Exon Structure 5/6 Alternative Splicing Database (ASD) splice patterns (SP) for AMBRA1 (see all 6 ) 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 :                                                 -    
ExUns: 22a · 22b SP1 :     SP2 :     SP3 :     SP4 :     SP5 :    
About this scheme ECgene alternative splicing isoforms for AMBRA1 6 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000426438 ENST00000314845 ENST00000452566 ENST00000314823 (uc010rgt.1 uc001ncu.1 uc001ncv.2 uc001ncw.2 )ENST00000458649 (uc009ylc.1 uc010rgu.1 uc001ncx.2 ) ENST00000298834
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Expression for AMBRA1 gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section AMBRA1 expression in normal and diseased human tissues 1 / 2
8 probe-sets matching AMBRA1 gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
52731_at2
U95-B
1
1.00
1.00
0.89
1.23
--
--
--
--
--
67932_at2
U95-D
1
0.50
1.00
0.27
0.77
--
--
--
--
--
219141_s_at2
U133-A
1
1.00
1.00
--
--
--
--
--
--
--
52731_at2
U133-A
1
1.00
1.00
--
--
--
--
--
--
--
234237_s_at2
U133-B
1
1.00
1.00
--
--
--
--
--
--
--
219141_s_at2
U133Plus2
1
1.00
1.00
--
--
--
--
--
--
--
52731_at2
U133Plus2
1
1.00
1.00
--
--
--
--
--
--
--
234237_s_at2
U133Plus2
1
1.00
1.00
--
--
--
--
--
--
--
About this table
AMBRA1 for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CCCCTCAAAA SOURCE GeneReport for Unigene cluster: Hs.654644 SABiosciences Expression via Pathway-Focused PCR Array including AMBRA1 : PAHS-084A
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Orthologsfor AMBRA1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for AMBRA1 gene from 5/7 species (see all 7 )
About this table Species with no ortholog for AMBRA1 ENSEMBL Gene Tree for AMBRA1 (if available)
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Paralogsfor AMBRA1 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section --
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Genomic Variantsfor AMBRA1 gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 11 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for AMBRA1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for AMBRA1: --
QIAGEN SeqTarget long-range PCR primers for resequencing AMBRA1
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Disorders & Mutationsfor AMBRA1 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
AMBRA1 for disorders About GeneDecksing
OMIM: 611359 Export disorders and mutations for AMBRA1 gene to outside databases
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Medical Newsfor AMBRA1 gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor AMBRA1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/16 PubMed articles for AMBRA1 gene, integrated from 7 sources (see all 16 ): (articles sorted by number of sources associating them with AMBRA1) Ambra1 regulates autophagy and development of the nervous system. (PubMed id 17589504) 1 , 2 , 3 Fimia G.M....Cecconi F. (2007) A novel role for autophagy in neurodevelopment. (PubMed id 17622796) 1 , 3 Cecconi F....Piacentini M. (2007) Autophagy: a new regulator of development. (PubMed id 17603510) 1 , 3 Le Bot N. (2007) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 Ota T.... Sugano S. (2004) 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. (PubMed id 11214970) 1 , 2 Nagase T.... Ohara O. (2000) Association of IFIH1 and other autoimmunity risk alle les with selective IgA deficiency. (PubMed id 20694011) 1 Ferreira R.C....HammarstrAPm L. (2010) The dynamic interaction of AMBRA1 with the dynein mot or complex regulates mammalian autophagy. (PubMed id 20921139) 1 Di Bartolomeo S....Fimia G.M. (2010 Oct 4) Network organization of the human autophagy system. (PubMed id 20562859) 1 Behrends C....Harper J.W. (2010) Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332) 2 Mayya V.... Han D.K. (2009) Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732) 1 Sowa M.E....Harper J.W. (2009)
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External Searches for AMBRA1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing AMBRA1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing AMBRA1 gene
(According to HUGE )
About This Section
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Specialized Databases showing AMBRA1 gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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About This Section Patent Information for AMBRA1 gene: Search GeneIP for patents involving AMBRA1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor AMBRA1 gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
Search Tocris compounds for AMBRA1
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