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Aliases & Descriptions for AES
(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
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Aliases AES-1 2 AES-2 2 ESP1 2 GRG 2 , 3 GRG5 1 , 2 TLE5 1 , 2
Descriptions Amino enhancer of split 3 GRG protein 3 Gp130-associated protein GAM 3 Protein ESP1 3 amino-terminal enhancer of split 2
Search outside databases for aliases for AES genePrevious GC identifers: GC19M003145 GC19M002992
Summaries for AES (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for AES : The protein encoded by this gene is similar in sequence to the amino terminus of Drosophilaenhancer of split groucho, a protein involved in neurogenesis during embryonic development. Theencoded protein, which belongs to the groucho/TLE family of proteins, can function as ahomooligomer or as a heteroologimer with other family members to dominantly repress the expressionof other family member genes. Three transcript variants encoding different isoforms have beenfound for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: AES_HUMAN, Q08117 Function : Acts as dominant repressor towards other family members. Inhibits NF-kappa-B-regulatedgene expression. May be required for the initiation and maintenance of the differentiated state
Genomic Location for AES
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
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Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the AES gene Entrez Gene cytogenetic band: 19p13.3 Ensembl cytogenetic band: 19p13.3 HGNC cytogenetic band: 19p13.3 AES 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 19 GeneLoc Exon Structure
GeneLoc location for GC19M003003:
(about GC identifiers )
Start:
3,003,908 bp from pter
End:
3,013,964 bp from pter
Size:
10,057 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000019.8 NT_011255.14 Proteins for AES
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
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Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
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Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
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Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: AES_HUMAN, Q08117 (See
protein sequence )Recommended Name: Amino-terminal enhancer of split Size : 197 amino acids; 21970 Da
Subunit : Homooligomer and heterooligomer with other family members. Binds TCF7 (By similarity).Binds the NF-kappa-B subunit RELA. Interacts with PHF12
Subcellular location : Nucleus (By similarity)
Secondary accessions : Q12808 Q96TG9 Q9UDY9Alternative splicing : 2 isoforms : Q08117-1 Q08117-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_001121.2 NP_945320.1 NP_945321.1 ENSEMBL proteins: ENSP00000221561 ENSP00000317537 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 1 Gene Ontology (GO) cellular component term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005634 nucleus
IEA --
About this table Antibodies for AES: Assays for AES:
Protein
Domains/ Families for AES(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q08117 ProtoNet protein and cluster: Q08117
UniProtKB/Swiss-Prot: AES_HUMAN, Q08117 Domain : Lacks the C-terminal WD repeatsSimilarity : Belongs to the WD repeat Groucho/TLE family
Gene Function for AES
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
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Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_001130 Applied Biosystems Silencer ® siRNAs for AES Sigma-Aldrich siRNA for AES Sigma-Aldrich shRNA for AES Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001130                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001130                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001130  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_198969 UniProtKB/Swiss-Prot: AES_HUMAN, Q08117 Function : Acts as dominant repressor towards other family members. Inhibits NF-kappa-B-regulatedgene expression. May be required for the initiation and maintenance of the differentiated state
Genatlas biochemistry entry for AES :amino-terminal enhancer of split,homologous to Drosophila ESG enhancer of split Groucho,mainlyexpressed in muscle,heart,brain
9 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Aes) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for AES
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for AES 5/41 Interacting proteins for AES (ENSP00000221561 3 Q08117 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 41
)About this table 5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7
):
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Drugs & Compounds for AES (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 )
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Transcripts for AES(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
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ESTs according to GeneTide ,
exon structure from GeneLoc ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_001130 Sigma-Aldrich siRNA for AES Sigma-Aldrich shRNA for AES Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001130 NM_198969 NM_198970
REFSEQ mRNAs for AES gene (3 alternative transcripts): NM_001130.5 NM_198969.1 NM_198970.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001130 NM_198969 NM_198970
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001130                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001130                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001130  
Additional cDNA sequence: AF072902.1 AF269289.1 AK094591.1 AK095154.1 AK314713.1 BC113735.1 BC113737.1 CR591354.1 CR591743.1 CR594247.1 CR594475.1 CR594586.1 CR595893.1 CR596634.1 CR598322.1 CR599584.1 CR605502.1 CR606153.1 CR608829.1 CR609469.1 CR613028.1 CR616198.1 CR617074.1 CR622685.1 CR625320.1 U04241.1 X73357.1 X73358.1
24/42 DOTS entries (see all 42
): DT.95176523 DT.100045190 DT.100858154 DT.91821772 DT.100808380 DT.121500399 DT.87017800 DT.121500449 DT.92460433 DT.100858157 DT.100858140 DT.121500435 DT.97863603 DT.100858142 DT.100858148 DT.121500452 DT.91900598 DT.92375835 DT.100858151 DT.95277120 DT.100045184 DT.100858139 DT.95277118 DT.97858075
24/995 AceView cDNA sequences (see all 995
):AI200348 CR617074 AA485742 NM_198969 AA349921 AI679427 AA911178 AI749936 BM789966 BM693746 CB156044 BF477434 AA946689 BM686583 AI383154 AA878074 BM824413 CD675600 BQ430553 BG114708 BF002306 CR616198 BQ961816 CR594475
highest scoring ESTs for AES :AI969192 AK094591 AL534525 AL556422 BE512945 BE615093 BE615671 BE615790 BE615936 BF312908
Unigene Cluster for AES: Amino-terminal enhancer of split Hs.515053 [show with all ESTs ] Unigene Representative Sequence: AK095154 GeneLoc Exon Structure 5/12 Alternative Splicing Database (ASD) splice patterns (SP) for AES (see all 12
) ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c SP1 :         -   -   -   -     -     -   -   -     -     -           SP2 :       -   -   -   -   -     -     -   -   -     -     -           SP3 :             -   -     -     -   -   -     -     -           SP4 :             -   -     -       -   -     -     -           SP5 :         -   -   -   -     -     -   -   -     -     -          
About this scheme ECgene alternative splicing isoforms for AES 2 Ensembl transcripts including schematic representations : ENST00000221561
ENST00000327141
Expression for AES
(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 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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AES expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for AES 1 / 2 / 3
5 probe-sets matching AES gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CACGCAATGCSOURCE GeneReport for Unigene cluster: Hs.515053 Expression variation in blood from EXPOLDB for AES
UniProtKB/Swiss-Prot: AES_HUMAN, Q08117 Tissue specificity : Found predominantly in muscle, heart and Placenta. In fetal tissues, abundantlyexpressed in the heart, lung, kidney, brain and liver
Orthologs for AES
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for AES gene from 5/8 species (see all 8
)
About this table Species with no ortholog for AES ENSEMBL Gene Tree for AES Paralogs for AES (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for AES gene TLE6 2 TLE2 2
SNPs/Variants for AES (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for AES (up to first 250kb)
Disorders & Mutations for AES
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 600188 1 PharmGKB disease relationship for AES gene About this table
Medical News for AES (Possibly Related Articles in
Doctor's Guide )
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--
Publications for AES (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/27 PubMed articles for AES gene (see all 27
): Molecular cloning and expression of mouse and human cDNA encoding AES and ESG proteins with strong similarity to Drosophila enhancer of split groucho protein. (PubMed id 8365415) 1, 2, 3, 4 Miyasaka H.... Li S.S.-L. (1993) The DNA sequence and biology of human chromosome 19. (PubMed id 15057824) 3, 4 Grimwood J.... Lucas S.M. (2004) Pf1, a novel PHD zinc finger protein that links the TLE corepressor to the mSin3A-histone deacetylase complex. (PubMed id 11390640) 3, 4 Yochum G.S. and Ayer D.E. (2001) Inhibition of nuclear factor-kappaB-mediated transcription by association with the amino-terminal enhancer of split, a Groucho- related protein lacking WD40 repeats. (PubMed id 10660609) 3, 4 Tetsuka T.... Okamoto T. (2000) Transducin-like enhancer of split proteins, the human homologs of Drosophila groucho, interact with hepatic nuclear factor 3beta. (PubMed id 10748198) 3, 4 Wang J.-C....Granner D.K. (2000) Genomic organization and chromosome localization to band 19p13.3 of the human AES gene: gene product exhibits strong similarity to the N- terminal domain of Drosophila enhancer of split Groucho protein. (PubMed id 9809752) 3, 4 Hou E.W. and Li S.S.-L. (1998) All Tcf HMG box transcription factors interact with Groucho-related co-repressors. (PubMed id 11266540) 1, 3 Brantjes H.... Clevers H. (2001) Histone deacetylase-related protein inhibits AES-mediated neuronal cell death by direct interaction. (PubMed id 18438919) 3 Zhang X....D'Mello S.R. (2008) Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931) 3 Ewing R.M....Figeys D. (2007) A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569) 3 Lim J....Zoghbi H.Y. (2006)
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Genome Databases showing AES
(According to
Entrez Gene ,
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euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing AES
(According to HUGE )
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Specialized Databases showing AES (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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Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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