TLE5 TLE family member 5, transcriptional modulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: TLE5provided by HGNC
Official Full Name: TLE family member 5, transcriptional modulatorprovided by HGNC
Primary source: HGNC:HGNC:307
See related: Ensembl:ENSG00000104964 MIM:600188; AllianceGenome:HGNC:307
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AES; GRG; ESP1; GRG5; AES-1; AES-2; Grg-5
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]
Expression: Ubiquitous expression in heart (RPKM 135.6), spleen (RPKM 116.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (3052910..3062966, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (3026363..3036419, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (3052908..3062964, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unrevealed roles of extracellular enolase-1 (ENO1) in promoting glycolysis and pro-cancer activities in multiple myeloma via hypoxia-inducible factor 1alpha.
Title: Unrevealed roles of extracellular enolase‑1 (ENO1) in promoting glycolysis and pro‑cancer activities in multiple myeloma via hypoxia‑inducible factor 1α.
The CK1delta/epsilon-AES axis regulates tumorigenesis and metastasis in colorectal cancer.
Title: The CK1δ/ε-AES axis regulates tumorigenesis and metastasis in colorectal cancer.
Results suggest that amino enhancer of split protein (AES) plays an important role in controlling tumor growth and metastasis of prostate cancer (PCa) by regulating both androgen receptor (AR) and Notch signaling pathway.
Title: Amino-terminal enhancer of split gene AES encodes a tumor and metastasis suppressor of prostate cancer.
results indicate that Aes may belong to a novel family of metastasis suppressors with a CpG-island promoter enhancer, and it is regulated transcriptionally
Title: Expression of metastasis suppressor gene AES driven by a Yin Yang (YY) element in a CpG island promoter and transcription factor YY2.
heat shock cognate 70 (HSC70) is an essential component of Aes foci in colorectal cancer cells.
Title: Characterization of Aes nuclear foci in colorectal cancer cells.
AES is a transcriptional repressor for HNF-1-alpha in pancreatic beta-cell.
Title: Repression of HNF1α-mediated transcription by amino-terminal enhancer of split (AES).
AES binds to PROP1 and represses its expression; PROP1 mutation is a likely cause of combined pituitary hormone deficiency.
Title: A PROP1-binding factor, AES cloned by yeast two-hybrid assay represses PROP1-induced Pit-1 gene expression.
GRG5/AES interacts with TCF4 and represses Wnt-mediated transcription both in human cells and zebrafish embryos.
Title: GRG5/AES interacts with T-cell factor 4 (TCF4) and downregulates Wnt signaling in human cells and zebrafish embryos.
alteration of the malignant behavior of cancer cells by AES is related to RND3 regulation.
Title: Suppression of RND3 activity by AES downregulation promotes cancer cell proliferation and invasion.
In the presence of NUP98-HOXA9, AES caused an increase in long-term proliferation of primary human CD34+ cells with a marked increase in the numbers of primitive cells.
Title: Amino-terminal enhancer of split (AES) interacts with the oncoprotein NUP98-HOXA9 and enhances its transforming ability.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of amino-terminal enhancer of split (AES) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed
Knockdown of amino-terminal enhancer of split (AES) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A009U26 (e-PCR)
- UniSTS:9987

AES_7743 (e-PCR)
- UniSTS:471338

RH69316 (e-PCR)
- UniSTS:13649

NoName (e-PCR)
- UniSTS:486003

D19S1166 (e-PCR)
- UniSTS:78244

G32846 (e-PCR)
- UniSTS:117425

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription corepressor activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of response to cytokine stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of anoikis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of growth	IEA Inferred from Electronic Annotation more info
involved_in response to interleukin-1	IDA Inferred from Direct Assay more info	PubMed
involved_in skeletal system development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: TLE family member 5

Names: amino-terminal enhancer of split; gp130-associated protein GAM; groucho-related protein 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029870.1 RefSeqGene

Range

5472..15057

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001130.6 → NP_001121.2 TLE family member 5 isoform b

See identical proteins and their annotated locations for NP_001121.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct N-terminus compared to isoform a.

Source sequence(s)

AC005944, AF269289, AK094591, BM550097, BM908356

Consensus CDS

CCDS12102.1

UniProtKB/Swiss-Prot

B2RBL0, Q08117, Q12808, Q14CJ1, Q96TG9, Q9UDY9

Related

ENSP00000317537.4, ENST00000327141.9

Conserved Domains (1) summary

pfam03920
Location:11 → 132

TLE_N; Groucho/TLE N-terminal Q-rich domain
NM_198969.1 → NP_945320.1 TLE family member 5 isoform a

See identical proteins and their annotated locations for NP_945320.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AF269289, AK094591, BG913049, N23852

Consensus CDS

CCDS12101.1

UniProtKB/Swiss-Prot

Q08117

UniProtKB/TrEMBL

Q8WY48

Related

ENSP00000221561.7, ENST00000221561.12

Conserved Domains (1) summary

pfam03920
Location:72 → 199

TLE_N; Groucho/TLE N-terminal Q-rich domain
NM_198970.2 → NP_945321.1 TLE family member 5 isoform c

See identical proteins and their annotated locations for NP_945321.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (c) is shorter, has a distinct N-terminus, and lacks 1 aa in the C-terminus compared to isoform a.

Source sequence(s)

AC005944, AF269289, AK094591, BG696926, BM908356

UniProtKB/Swiss-Prot

Q08117

UniProtKB/TrEMBL

Q8WY48

Conserved Domains (1) summary

pfam03920
Location:11 → 131

TLE_N; Groucho/TLE N-terminal Q-rich domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

3052910..3062966 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006722664.2 → XP_006722727.1 TLE family member 5 isoform X1

Conserved Domains (1) summary

pfam03920
Location:72 → 198

TLE_N; Groucho/TLE N-terminal Q-rich domain