TLE6 TLE family member 6, subcortical maternal complex member [Homo sapiens (human)] - Gene

Summary

Official Symbol: TLE6provided by HGNC
Official Full Name: TLE family member 6, subcortical maternal complex memberprovided by HGNC
Primary source: HGNC:HGNC:30788
See related: Ensembl:ENSG00000104953 MIM:612399; AllianceGenome:HGNC:30788
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: GRG6; PREMBL; OZEMA15
Summary: This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression: Broad expression in thyroid (RPKM 2.5), placenta (RPKM 2.5) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (2977401..2995179)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (2950897..2968675)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (2977562..2995177)

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?

A novel TLE6 mutation, c.541+1G>A, identified using whole-exome sequencing in a Chinese family with female infertility.
Title: A novel TLE6 mutation, c.541+1G>A, identified using whole-exome sequencing in a Chinese family with female infertility.
Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.
Title: Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.
Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations.
Title: Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations.
In this first report of a human defect in a member of the subcortical maternal subcritical maternal complex, we show that the TLE6 mutation is gender-specific and leads to the earliest known human embryonic lethality phenotype
Title: TLE6 mutation causes the earliest known human embryonic lethality.
transcriptional programmes regulated by FOXG1 and Groucho/TLE are important for BTIC-initiated brain tumour growth, implicating FOXG1 and Groucho/TLE in GBM tumourigenesis
Title: Transcription factors FOXG1 and Groucho/TLE promote glioblastoma growth.
Expression of Tle6-like in colon cancer cells increased cell proliferation, colony-formation, cell migration, and xenograft tumorgenicity.
Title: Novel roles for MLH3 deficiency and TLE6-like amplification in DNA mismatch repair-deficient gastrointestinal tumorigenesis and progression.

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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

Associated conditions

Description	Tests
Preimplantation embryonic lethality 1 MedGen: C4225197 OMIM: 616814 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in actin filament organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic process involved in female pregnancy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of spindle localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrion localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of embryonic development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell division	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cell cortex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of subcortical maternal complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: transducin-like enhancer protein 6

Names: transducin like enhancer of split 6; transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)

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_051563.1 RefSeqGene

Range

5150..22765

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001143986.2 → NP_001137458.1 transducin-like enhancer protein 6 isoform 1

See identical proteins and their annotated locations for NP_001137458.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer variant and it encodes the longer protein (isoform 1).

Source sequence(s)

AK024071, BC020206, DB059462

Consensus CDS

CCDS45910.1

UniProtKB/Swiss-Prot

J3KMZ1, Q9H808

Related

ENSP00000246112.3, ENST00000246112.9

Conserved Domains (2) summary

sd00039
Location:289 → 325

7WD40; WD40 repeat [structural motif]

cl29593
Location:282 → 561

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_024760.3 → NP_079036.1 transducin-like enhancer protein 6 isoform 2

See identical proteins and their annotated locations for NP_079036.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame segment, in the 5' coding region and uses a downstream start codon, compared to variant 1. Isoform 2 has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

BC013986, BC020206, BX089956, DA013757

Consensus CDS

CCDS12100.1

UniProtKB/TrEMBL

A0A087X0R4, Q6PJM9

Related

ENSP00000406893.1, ENST00000452088.5

Conserved Domains (2) summary

sd00039
Location:166 → 202

7WD40; WD40 repeat [structural motif]

cl25539
Location:159 → 438

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RNA

NR_138612.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks central and 3' exons and has a 3' end that extends into an intron compared to variant 1. This variant is represented as non-coding because it lacks most of the coding region found in variant 1.

Source sequence(s)

BC068052, HY050316

Related

ENST00000482627.1

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

2977401..2995179

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011528300.3 → XP_011526602.1 transducin-like enhancer protein 6 isoform X1

See identical proteins and their annotated locations for XP_011526602.1

UniProtKB/Swiss-Prot

J3KMZ1, Q9H808

Conserved Domains (2) summary

sd00039
Location:289 → 325

7WD40; WD40 repeat [structural motif]

cl29593
Location:282 → 561

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_005259645.3 → XP_005259702.1 transducin-like enhancer protein 6 isoform X1

See identical proteins and their annotated locations for XP_005259702.1

UniProtKB/Swiss-Prot

J3KMZ1, Q9H808

Conserved Domains (2) summary

sd00039
Location:289 → 325

7WD40; WD40 repeat [structural motif]

cl29593
Location:282 → 561

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_024451723.2 → XP_024307491.1 transducin-like enhancer protein 6 isoform X2

UniProtKB/TrEMBL

A0A087X0R4, Q6PJM9

Conserved Domains (2) summary

sd00039
Location:166 → 202

7WD40; WD40 repeat [structural motif]

cl25539
Location:159 → 438

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_024451722.2 → XP_024307490.1 transducin-like enhancer protein 6 isoform X2

UniProtKB/TrEMBL

A0A087X0R4, Q6PJM9

Conserved Domains (2) summary

sd00039
Location:166 → 202

7WD40; WD40 repeat [structural motif]

cl25539
Location:159 → 438

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_011528301.3 → XP_011526603.1 transducin-like enhancer protein 6 isoform X2

See identical proteins and their annotated locations for XP_011526603.1

UniProtKB/TrEMBL

A0A087X0R4, Q6PJM9

Conserved Domains (2) summary

sd00039
Location:166 → 202

7WD40; WD40 repeat [structural motif]

cl25539
Location:159 → 438

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_024451724.2 → XP_024307492.1 transducin-like enhancer protein 6 isoform X3

Conserved Domains (2) summary

sd00039
Location:116 → 152

7WD40; WD40 repeat [structural motif]

cl25539
Location:109 → 388

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

2950897..2968675

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054322186.1 → XP_054178161.1 transducin-like enhancer protein 6 isoform X1

UniProtKB/Swiss-Prot

J3KMZ1, Q9H808
XM_054322185.1 → XP_054178160.1 transducin-like enhancer protein 6 isoform X1

UniProtKB/Swiss-Prot

J3KMZ1, Q9H808
XM_054322189.1 → XP_054178164.1 transducin-like enhancer protein 6 isoform X2

UniProtKB/TrEMBL

A0A087X0R4, Q6PJM9
XM_054322188.1 → XP_054178163.1 transducin-like enhancer protein 6 isoform X2

UniProtKB/TrEMBL

A0A087X0R4, Q6PJM9
XM_054322187.1 → XP_054178162.1 transducin-like enhancer protein 6 isoform X2

UniProtKB/TrEMBL

A0A087X0R4, Q6PJM9
XM_054322190.1 → XP_054178165.1 transducin-like enhancer protein 6 isoform X3