Human Gene TLE5 (ENST00000221561.12_5) from GENCODE V47lift37
  Description: TLE family member 5, transcriptional modulator, transcript variant 1 (from RefSeq NM_198969.1)
Gencode Transcript: ENST00000221561.12_5
Gencode Gene: ENSG00000104964.15_14
Transcript (Including UTRs)
   Position: hg19 chr19:3,052,908-3,063,105 Size: 10,198 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr19:3,053,817-3,062,925 Size: 9,109 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:3,052,908-3,063,105)mRNA (may differ from genome)Protein (264 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AES_HUMAN
DESCRIPTION: RecName: Full=Amino-terminal enhancer of split; Short=Amino enhancer of split; AltName: Full=Gp130-associated protein GAM; AltName: Full=Protein ESP1; AltName: Full=Protein GRG;
FUNCTION: 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.
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).
TISSUE SPECIFICITY: Found predominantly in muscle, heart and Placenta. In fetal tissues, abundantly expressed in the heart, lung, kidney, brain and liver.
DOMAIN: Lacks the C-terminal WD repeats.
PTM: Ubiquitinated by XIAP/BIRC4.
SIMILARITY: Belongs to the WD repeat Groucho/TLE family.
SEQUENCE CAUTION: Sequence=AAC35517.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 441.33 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 10477.80 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -62.20180-0.346 Picture PostScript Text
3' UTR -332.90909-0.366 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005617 - Groucho/TLE_N

Pfam Domains:
PF03920 - Groucho/TLE N-terminal Q-rich domain

ModBase Predicted Comparative 3D Structure on Q08117
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
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:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0009887 animal 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


-  Descriptions from all associated GenBank mRNAs
  AK095154 - Homo sapiens cDNA FLJ37835 fis, clone BRSSN2010110, weakly similar to GRG PROTEIN.
AK094591 - Homo sapiens cDNA FLJ37272 fis, clone BRAMY2012091, highly similar to Homo sapiens amino-terminal enhancer of split (AES), transcript variant 1, mRNA.
AF269289 - Homo sapiens PP2150 mRNA, complete cds.
U04241 - Human homolog of Drosophila enhancer of split m9/m10 mRNA, complete cds.
AF072902 - Homo sapiens gp130 associated protein GAM mRNA, complete cds.
JD533606 - Sequence 514630 from Patent EP1572962.
MS906535 - Sequence 89 from Patent WO2017059902.
MS909341 - Sequence 89 from Patent WO2017060314.
JD072121 - Sequence 53145 from Patent EP1572962.
JD421279 - Sequence 402303 from Patent EP1572962.
JD508866 - Sequence 489890 from Patent EP1572962.
MS906534 - Sequence 88 from Patent WO2017059902.
MS909340 - Sequence 88 from Patent WO2017060314.
MS906532 - Sequence 86 from Patent WO2017059902.
MS909338 - Sequence 86 from Patent WO2017060314.
MS906533 - Sequence 87 from Patent WO2017059902.
MS909339 - Sequence 87 from Patent WO2017060314.
JD226289 - Sequence 207313 from Patent EP1572962.
JD122140 - Sequence 103164 from Patent EP1572962.
X73358 - H.sapiens hAES-1 mRNA.
JD320006 - Sequence 301030 from Patent EP1572962.
BC113735 - Homo sapiens amino-terminal enhancer of split, mRNA (cDNA clone MGC:142295 IMAGE:8322787), complete cds.
BC113737 - Homo sapiens amino-terminal enhancer of split, mRNA (cDNA clone MGC:142297 IMAGE:8322789), complete cds.
JD499354 - Sequence 480378 from Patent EP1572962.
JD106117 - Sequence 87141 from Patent EP1572962.
JD163734 - Sequence 144758 from Patent EP1572962.
JD213682 - Sequence 194706 from Patent EP1572962.
JD075359 - Sequence 56383 from Patent EP1572962.
JD407403 - Sequence 388427 from Patent EP1572962.
JD314519 - Sequence 295543 from Patent EP1572962.
JD109091 - Sequence 90115 from Patent EP1572962.
JD506137 - Sequence 487161 from Patent EP1572962.
JD356513 - Sequence 337537 from Patent EP1572962.
JD449261 - Sequence 430285 from Patent EP1572962.
AK314713 - Homo sapiens cDNA, FLJ95570, Homo sapiens amino-terminal enhancer of split (AES), mRNA.
HQ258149 - Synthetic construct Homo sapiens clone IMAGE:100072458 amino-terminal enhancer of split (AES) gene, encodes complete protein.
KJ890640 - Synthetic construct Homo sapiens clone ccsbBroadEn_00034 AES gene, encodes complete protein.
AB527754 - Synthetic construct DNA, clone: pF1KB7959, Homo sapiens AES gene for amino-terminal enhancer of split, without stop codon, in Flexi system.
X73357 - H.sapiens hAES-2 mRNA.
MP573202 - Sequence 89 from Patent EP3636764.
MP573201 - Sequence 88 from Patent EP3636764.
MP573199 - Sequence 86 from Patent EP3636764.
MP573200 - Sequence 87 from Patent EP3636764.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q08117 (Reactome details) participates in the following event(s):

R-HSA-4649028 TLE forms non-functional complexes with AES
R-HSA-4641265 Repression of WNT target genes
R-HSA-195253 Degradation of beta-catenin by the destruction complex
R-HSA-195721 Signaling by WNT
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: AES, B2RBL0, ENST00000221561.1, ENST00000221561.10, ENST00000221561.11, ENST00000221561.2, ENST00000221561.3, ENST00000221561.4, ENST00000221561.5, ENST00000221561.6, ENST00000221561.7, ENST00000221561.8, ENST00000221561.9, GRG, GRG5, NM_198969, Q08117, Q12808, Q14CJ1, Q96TG9, Q9UDY9, TLE5 , TLE5_HUMAN, uc317dbv.1, uc317dbv.2
UCSC ID: ENST00000221561.12_5
RefSeq Accession: NM_198969.1
Protein: Q08117 (aka AES_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.