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 ot... See more...

Aliases for TLE5 Gene

Aliases for TLE5 Gene

  • TLE Family Member 5, Transcriptional Modulator 2 3 4 5
  • Amino-Terminal Enhancer Of Split 2 3 4
  • Gp130-Associated Protein GAM 3 4
  • Groucho-Related Protein 5 3 4
  • TLE Family Member 5 3 4
  • Grg-5 3 4
  • GRG5 3 4
  • AES 3 4
  • GRG 3 4
  • Amino Enhancer Of Split 4
  • Protein ESP1 4
  • Protein GRG 4
  • AES-1 3
  • AES-2 3
  • ESP1 3

External Ids for TLE5 Gene

Previous HGNC Symbols for TLE5 Gene

  • AES

Summaries for TLE5 Gene

Entrez Gene Summary for TLE5 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 TLE5 Gene

TLE5 (TLE Family Member 5, Transcriptional Modulator) is a Protein Coding gene. Among its related pathways are Signaling by Wnt and Ectoderm Differentiation. An important paralog of this gene is TLE4.

UniProtKB/Swiss-Prot Summary for TLE5 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.

Additional gene information for TLE5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TLE5 Gene

Genomics for TLE5 Gene

GeneHancer (GH) Regulatory Elements for TLE5 Gene

Promoters and enhancers for TLE5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J003059 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 521.4 +1.3 1254 4.8 CTCF ZSCAN5C PHF8 POLR2A ZBTB10 ZNF423 ZNF623 AFF1 REST ZNF740 TLE5 lnc-AES-1 GNA11 TLE6 ENSG00000267469
GH19J003150 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -90.3 -90281 6 NRF1 TCF12 SP1 GTF2E2 JUND FOS ZNF639 REST ZBTB10 ZNF263 LOC100996351 ZNF77 CACTIN GNA11 ZNF555 SPPL2B AP3D1 GNA15 TLE2 LMNB2
GH19J002968 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.1 +91.4 91350 6.7 USF1 ZNF10 ZNF263 AFF1 REST HES1 TOE1 MYC RUNX1 EP300 NCLN TLE6 TLE2 TLE5 ZNF77 GNA11 ENSG00000253392 ZNF57 S1PR4 ENSG00000267283
GH19J003164 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -102.4 -102385 1 CTCF ZNF426 SPI1 ZFP64 ZNF18 ZNF34 POLR2A CEBPB ZNF781 ZNF518A GNA15 GNA11 TLE5 SF3A2 APBA3 S1PR4 FZR1 piR-61101-321 piR-49204-004
GH19J003163 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 11.5 -100.3 -100281 1.7 CTCF USF1 ZBTB10 REST TOE1 RAD21 ZBTB7A TRIM22 NFYB SMC3 GNA15 GNA11 TLE5 APBA3 piR-61101-321 piR-49204-004
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TLE5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TLE5

Genomic Locations for TLE5 Gene

Genomic Locations for TLE5 Gene
chr19:3,052,910-3,063,107
(GRCh38/hg38)
Size:
10,198 bases
Orientation:
Minus strand
chr19:3,052,908-3,063,105
(GRCh37/hg19)
Size:
10,198 bases
Orientation:
Minus strand

Genomic View for TLE5 Gene

Genes around TLE5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLE5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLE5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLE5 Gene

Proteins for TLE5 Gene

  • Protein details for TLE5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08117-TLE5_HUMAN
    Recommended name:
    TLE family member 5
    Protein Accession:
    Q08117
    Secondary Accessions:
    • B2RBL0
    • Q12808
    • Q14CJ1
    • Q96TG9
    • Q9UDY9

    Protein attributes for TLE5 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; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for TLE5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TLE5 Gene

Post-translational modifications for TLE5 Gene

  • Ubiquitinated by XIAP/BIRC4.
  • Ubiquitination at Lys19, Lys30, Lys54, and Lys112
  • Modification sites at PhosphoSitePlus

Other Protein References for TLE5 Gene

No data available for DME Specific Peptides for TLE5 Gene

Domains & Families for TLE5 Gene

Gene Families for TLE5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TLE5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TLE5 Gene

GenScript: Design optimal peptide antigens:
  • Protein GRG (AES_HUMAN)
  • cDNA FLJ37272 fis, clone BRAMY2012091, highly similar to Homo sapiens amino-terminal enhancer of split (AES), transcript variant 1, mRNA (Q14CJ1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q08117

UniProtKB/Swiss-Prot:

TLE5_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 TLE5: view

Function for TLE5 Gene

Molecular function for TLE5 Gene

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.

Phenotypes From GWAS Catalog for TLE5 Gene

Gene Ontology (GO) - Molecular Function for TLE5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IPI 10660609
GO:0005515 protein binding IEA,IPI 10660609
GO:0070491 repressing transcription factor binding IBA 21873635
genes like me logo Genes that share ontologies with TLE5: view
genes like me logo Genes that share phenotypes with TLE5: view

Animal Models for TLE5 Gene

MGI Knock Outs for TLE5:
  • Tle5 Tle5<tm1Grid>

Animal Model Products

CRISPR Products

miRNA for TLE5 Gene

miRTarBase miRNAs that target TLE5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TLE5 Gene

Localization for TLE5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLE5 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TLE5 gene
Compartment Confidence
nucleus 5
mitochondrion 3
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TLE5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 22952044
GO:0005667 transcription factor complex IBA 21873635
genes like me logo Genes that share ontologies with TLE5: view

Pathways & Interactions for TLE5 Gene

genes like me logo Genes that share pathways with TLE5: view

SIGNOR curated interactions for TLE5 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for TLE5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 10660609
GO:0001501 skeletal system development IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development TAS 8365415
genes like me logo Genes that share ontologies with TLE5: view

Drugs & Compounds for TLE5 Gene

No Compound Related Data Available

Transcripts for TLE5 Gene

mRNA/cDNA for TLE5 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TLE5 Gene

No ASD Table

Relevant External Links for TLE5 Gene

GeneLoc Exon Structure for
TLE5

Expression for TLE5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TLE5

SOURCE GeneReport for Unigene cluster for TLE5 Gene:

Hs.515053

mRNA Expression by UniProt/SwissProt for TLE5 Gene:

Q08117-TLE5_HUMAN
Tissue specificity: Found predominantly in muscle, heart and Placenta. In fetal tissues, abundantly expressed in the heart, lung, kidney, brain and liver.

Evidence on tissue expression from TISSUES for TLE5 Gene

  • Nervous system(4.9)
  • Blood(4.4)
  • Lung(4.2)
  • Eye(3.7)
  • Pancreas(3.4)
  • Muscle(3.1)
  • Skin(3)
  • Heart(2.7)
  • Liver(2.6)
  • Intestine(2.5)
  • Spleen(2.3)
  • Adrenal gland(2.2)
  • Kidney(2.1)
  • Lymph node(2.1)
  • Stomach(2.1)
  • Thyroid gland(2.1)
  • Bone(2)
genes like me logo Genes that share expression patterns with TLE5: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TLE5 Gene

Orthologs for TLE5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TLE5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AES 31 30
  • 98.74 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AES 31
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AES 31 30
  • 92.02 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aes 30
  • 86.7 (n)
mouse
(Mus musculus)
Mammalia Aes 31 30
  • 86.35 (n)
OneToOne
Tle5 17
platypus
(Ornithorhynchus anatinus)
Mammalia AES 31
  • 55 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
ManyToMany
chicken
(Gallus gallus)
Aves AES 31 30
  • 83.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 2 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aes 30
  • 77.72 (n)
Str.1868 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68432 30
zebrafish
(Danio rerio)
Actinopterygii aes 31 30
  • 78.02 (n)
OneToMany
chico 31
  • 75 (a)
OneToMany
-- 30
Species where no ortholog for TLE5 was found in the sources mined by GeneCards:
  • 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 TLE5 Gene

ENSEMBL:
Gene Tree for TLE5 (if available)
TreeFam:
Gene Tree for TLE5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TLE5: view image

Paralogs for TLE5 Gene

Paralogs for TLE5 Gene

genes like me logo Genes that share paralogs with TLE5: view

Variants for TLE5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TLE5 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs1802578 - p.Ala168Glu

Additional dbSNP identifiers (rs#s) for TLE5 Gene

Structural Variations from Database of Genomic Variants (DGV) for TLE5 Gene

Variant ID Type Subtype PubMed ID
dgv47n68 CNV loss 17160897
nsv1061420 CNV gain 25217958
nsv1071892 CNV deletion 25765185
nsv1136268 CNV deletion 24896259
nsv578420 CNV loss 21841781
nsv833709 CNV loss 17160897

Variation tolerance for TLE5 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)

Additional Variant Information for TLE5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLE5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TLE5 Gene

Disorders for TLE5 Gene

Additional Disease Information for TLE5

No disorders were found for TLE5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TLE5 Gene

Publications for TLE5 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 SS (European journal of biochemistry 1993) 2 3 4 23 54
  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 PL (The Journal of biological chemistry 2005) 3 23 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 54
  5. Six3 and Six6 activity is modulated by members of the groucho family. (PMID: 12441302) López-Ríos J … Bovolenta P (Development (Cambridge, England) 2003) 3 4 54

Products for TLE5 Gene

Sources for TLE5 Gene