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Aliases for AES Gene

Aliases for AES Gene

  • Amino-Terminal Enhancer Of Split 2 3 5
  • Gp130-Associated Protein GAM 3 4
  • Groucho-Related Protein 5 3 4
  • Grg-5 3 4
  • GRG5 3 4
  • GRG 3 4
  • Amino Enhancer Of Split 4
  • Protein ESP1 4
  • Protein GRG 4
  • AES-1 3
  • AES-2 3
  • ESP1 3
  • TLE5 3

External Ids for AES Gene

Previous GeneCards Identifiers for AES Gene

  • GC19M003145
  • GC19M002992
  • GC19M003003
  • GC19M002819

Summaries for AES Gene

Entrez Gene Summary for AES Gene

  • 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]

GeneCards Summary for AES Gene

AES (Amino-Terminal Enhancer Of Split) is a Protein Coding gene. Diseases associated with AES include autoimmune polyendocrine syndrome type 2. Among its related pathways are Signaling by GPCR and Presenilin action in Notch and Wnt signaling. GO annotations related to this gene include transcription corepressor activity. An important paralog of this gene is TLE2.

UniProtKB/Swiss-Prot for AES Gene

  • Transcriptional corepressor. Acts as dominant repressor towards other family members. Inhibits NF-kappa-B-regulated gene expression. May be required for the initiation and maintenance of the differentiated state. Essential for the transcriptional repressor activity of SIX3 during retina and lens development.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AES Gene

Genomics for AES Gene

Regulatory Elements for AES Gene

Promoters for AES Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AES on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the AES gene promoter:

Genomic Location for AES Gene

Chromosome:
19
Start:
3,052,910 bp from pter
End:
3,063,107 bp from pter
Size:
10,198 bases
Orientation:
Minus strand

Genomic View for AES Gene

Genes around AES on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AES Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AES Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AES Gene

Proteins for AES Gene

  • Protein details for AES Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08117-AES_HUMAN
    Recommended name:
    Amino-terminal enhancer of split
    Protein Accession:
    Q08117
    Secondary Accessions:
    • B2RBL0
    • Q12808
    • Q14CJ1
    • Q96TG9
    • Q9UDY9

    Protein attributes for AES Gene

    Size:
    197 amino acids
    Molecular mass:
    21970 Da
    Quaternary structure:
    • Homooligomer and heterooligomer with other family members. Binds TCF7 (By similarity). Binds the NF-kappa-B subunit RELA. Interacts with PHF12. Interacts (via Q domain) with SIX3. Interacts with SIX6.
    SequenceCaution:
    • Sequence=AAC35517.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AES Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AES Gene

Proteomics data for AES Gene at MOPED

Post-translational modifications for AES Gene

  • Ubiquitinated by XIAP/BIRC4.
  • Ubiquitination at Lys 19, Lys 30, Lys 54, and Lys 112
  • Modification sites at PhosphoSitePlus

Other Protein References for AES Gene

Antibody Products

No data available for DME Specific Peptides for AES Gene

Domains & Families for AES Gene

Protein Domains for AES Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q08117

UniProtKB/Swiss-Prot:

AES_HUMAN :
  • Lacks the C-terminal WD repeats.
  • Belongs to the WD repeat Groucho/TLE family.
Domain:
  • Lacks the C-terminal WD repeats.
Family:
  • Belongs to the WD repeat Groucho/TLE family.
genes like me logo Genes that share domains with AES: view

No data available for Gene Families for AES Gene

Function for AES Gene

Molecular function for AES Gene

GENATLAS Biochemistry:
amino-terminal enhancer of split,homologous to Drosophila ESG enhancer of split Groucho,mainly expressed in muscle,heart,brain
UniProtKB/Swiss-Prot Function:
Transcriptional corepressor. Acts as dominant repressor towards other family members. Inhibits NF-kappa-B-regulated gene expression. May be required for the initiation and maintenance of the differentiated state. Essential for the transcriptional repressor activity of SIX3 during retina and lens development.
genes like me logo Genes that share phenotypes with AES: view

Animal Models for AES Gene

MGI Knock Outs for AES:

Animal Model Products

miRNA for AES Gene

miRTarBase miRNAs that target AES

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AES Gene

Localization for AES Gene

Subcellular locations from UniProtKB/Swiss-Prot for AES Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AES Gene COMPARTMENTS Subcellular localization image for AES gene
Compartment Confidence
nucleus 5
mitochondrion 3
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for AES Gene

Pathways & Interactions for AES Gene

genes like me logo Genes that share pathways with AES: view

Gene Ontology (GO) - Biological Process for AES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 10660609
GO:0006351 transcription, DNA-templated IEA --
GO:0010629 negative regulation of gene expression IMP 15006356
GO:0016055 Wnt signaling pathway IEA --
GO:0032091 negative regulation of protein binding IDA 15489227
genes like me logo Genes that share ontologies with AES: view

No data available for SIGNOR curated interactions for AES Gene

Drugs & Compounds for AES Gene

No Compound Related Data Available

Transcripts for AES Gene

Unigene Clusters for AES Gene

Amino-terminal enhancer of split:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AES Gene

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: - - - - - - - - - -
SP6: - - - - - -
SP7: - - - - - -
SP8: - - - - -
SP9: -
SP10: - - -
SP11: -
SP12: - -

Relevant External Links for AES Gene

GeneLoc Exon Structure for
AES
ECgene alternative splicing isoforms for
AES

Expression for AES Gene

mRNA expression in normal human tissues for AES Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AES Gene

This gene is overexpressed in Fetal Brain (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AES Gene



SOURCE GeneReport for Unigene cluster for AES Gene Hs.515053

mRNA Expression by UniProt/SwissProt for AES Gene

Q08117-AES_HUMAN
Tissue specificity: Found predominantly in muscle, heart and Placenta. In fetal tissues, abundantly expressed in the heart, lung, kidney, brain and liver.
genes like me logo Genes that share expression patterns with AES: view

Protein tissue co-expression partners for AES Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for AES Gene

Orthologs for AES Gene

This gene was present in the common ancestor of chordates.

Orthologs for AES Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AES 35
  • 98.74 (n)
  • 98.39 (a)
AES 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AES 36
  • 100 (a)
OneToOne
AES 35
  • 92.02 (n)
  • 100 (a)
dog
(Canis familiaris)
Mammalia -- 36
ManyToMany
mouse
(Mus musculus)
Mammalia Aes 36
  • 96 (a)
OneToOne
Aes 16
Aes 35
  • 86.35 (n)
  • 99.47 (a)
oppossum
(Monodelphis domestica)
Mammalia AES 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AES 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aes 35
  • 86.7 (n)
  • 99.47 (a)
chicken
(Gallus gallus)
Aves AES 36
  • 97 (a)
OneToOne
AES 35
  • 83.33 (n)
  • 97.44 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 2 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC68432 35
tropical clawed frog
(Silurana tropicalis)
Amphibia aes 35
  • 77.72 (n)
  • 94.12 (a)
Str.1868 35
zebrafish
(Danio rerio)
Actinopterygii aes 36
  • 75 (a)
OneToMany
chico 36
  • 75 (a)
OneToMany
-- 35
aes 35
  • 78.02 (n)
  • 85.16 (a)
Species with no ortholog for AES:
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 AES Gene

ENSEMBL:
Gene Tree for AES (if available)
TreeFam:
Gene Tree for AES (if available)

Paralogs for AES Gene

Paralogs for AES Gene

(4) SIMAP similar genes for AES Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with AES: view

Variants for AES Gene

Sequence variations from dbSNP and Humsavar for AES Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs13032 -- 3,052,916(+) AAGCT(C/T)CTCAC utr-variant-3-prime
rs15491 -- 3,052,970(+) ATTTT(A/C)CACTT utr-variant-3-prime
rs1058707 -- 3,058,056(-) AATGT(C/T)CTCAG intron-variant
rs415945 -- 3,053,328(+) GTGAG(G/T)GGGGC utr-variant-3-prime
rs425485 -- 3,053,804(+) CTCCC(C/G/T)GTCCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for AES Gene

Variant ID Type Subtype PubMed ID
nsv833709 CNV Loss 17160897
nsv910694 CNV Loss 21882294
dgv47n68 CNV Loss 17160897
nsv910695 CNV Loss 21882294
dgv3644n71 CNV Loss 21882294
nsv910697 CNV Loss 21882294
nsv910700 CNV Loss 21882294
nsv910702 CNV Loss 21882294
nsv910703 CNV Loss 21882294

Variation tolerance for AES Gene

Residual Variation Intolerance Score: 66.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.17; 3.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AES Gene

HapMap Linkage Disequilibrium report
AES

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AES Gene

Disorders for AES Gene

MalaCards: The human disease database

(1) MalaCards diseases for AES Gene - From: DISEASES

Disorder Aliases PubMed IDs
autoimmune polyendocrine syndrome type 2
  • schmidt syndrome
- elite association - COSMIC cancer census association via MalaCards
Search AES in MalaCards View complete list of genes associated with diseases

Relevant External Links for AES

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AES
genes like me logo Genes that share disorders with AES: view

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

Publications for AES Gene

  1. Molecular cloning and expression of mouse and human cDNA encoding AES and ESG proteins with strong similarity to Drosophila enhancer of split groucho protein. (PMID: 8365415) Miyasaka H. … Li S.S.-L. (Eur. J. Biochem. 1993) 2 3 4 23 67
  2. The Groucho-related gene family regulates the gonadotropin-releasing hormone gene through interaction with the homeodomain proteins MSX1 and OCT1. (PMID: 16002402) Rave-Harel N. … Mellon P.L. (J. Biol. Chem. 2005) 3 23
  3. All Tcf HMG box transcription factors interact with Groucho-related co-repressors. (PMID: 11266540) Brantjes H. … Clevers H. (Nucleic Acids Res. 2001) 3 23
  4. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for AES Gene

Sources for AES Gene

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