Homo sapiens Gene: AES
Summary
InnateDB Gene IDBG-16753.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AES
Gene Name amino-terminal enhancer of split
Synonyms AES-1; AES-2; ESP1; GRG; GRG5; TLE5
Species Homo sapiens
Ensembl Gene ENSG00000104964
Encoded Proteins
amino-terminal enhancer of split
amino-terminal enhancer of split
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The encoded protein, which belongs to the groucho/TLE family of proteins, can function as a homooligomer or as a heteroologimer with other family members to dominantly repress the expression of other family member genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:3052910-3063107
Strand Reverse strand
Band p13.3
Transcripts
ENST00000221561 ENSP00000221561
ENST00000327141 ENSP00000317537
ENST00000586742 ENSP00000466038
ENST00000590067
ENST00000592330
ENST00000585557 ENSP00000466179
ENST00000585782
ENST00000587083
ENST00000592414
ENST00000587393
ENST00000586839 ENSP00000467831
ENST00000586003
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 145 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 145 [view]
Protein-Protein 145 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001501 skeletal system development
GO:0006351 transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organismal development
GO:0009887 organ morphogenesis
GO:0010629 negative regulation of gene expression
GO:0016055 Wnt signaling pathway
GO:0031668 cellular response to extracellular stimulus
GO:0032091 negative regulation of protein binding
GO:0040008 regulation of growth
GO:0045892 negative regulation of transcription, DNA-templated
GO:0060761 negative regulation of response to cytokine stimulus
GO:0070555 response to interleukin-1
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:2000210 positive regulation of anoikis
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
AndrogenReceptor pathway
REACTOME
Degradation of beta-catenin by the destruction complex pathway
truncated APC mutants destabilize the destruction complex pathway
AXIN mutants destabilize the destruction complex, activating WNT signaling pathway
APC truncation mutants are not K63 polyubiquitinated pathway
AMER1 mutants destabilize the destruction complex pathway
Signaling by WNT in cancer pathway
AXIN missense mutants destabilize the destruction complex pathway
Signaling by Wnt pathway
APC truncation mutants have impaired AXIN binding pathway
T41 mutants of beta-catenin aren't phosphorylated pathway
Signal Transduction pathway
misspliced GSK3beta mutants stabilize beta-catenin pathway
S45 mutants of beta-catenin aren't phosphorylated pathway
deletions in the AMER1 gene destabilize the destruction complex pathway
S33 mutants of beta-catenin aren't phosphorylated pathway
truncations of AMER1 destabilize the destruction complex pathway
phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex pathway
repression of WNT target genes pathway
deletions in the AXIN genes in hepatocellular carcinoma result in elevated WNT signaling pathway
TCF7L2 mutants don't bind CTBP pathway
S37 mutants of beta-catenin aren't phosphorylated pathway
Disease pathway
KEGG
INOH
PID NCI
Presenilin action in Notch and Wnt signaling
Regulation of nuclear beta catenin signaling and target gene transcription
Cross-References
SwissProt
TrEMBL K7ELQ8
UniProt Splice Variant
Entrez Gene 166
UniGene Hs.515053
RefSeq NM_001130 NM_198969 NM_198970 XM_006722664
HUGO HGNC:307
OMIM 600188
CCDS CCDS12101 CCDS12102
HPRD 02556
IMGT
EMBL AC005944
GenPept
RNA Seq Atlas 166