Format

Send to:

Choose Destination

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

Gene ID: 79816, updated on 1-Jun-2020

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
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
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

Genomic context

See TLE6 in Genome Data Viewer
Location:
19p13.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (2977410..2995184)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2977536..2995182)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928631 Neighboring gene zinc finger protein 57 Neighboring gene zinc finger protein 77 Neighboring gene TLE family member 2, transcriptional corepressor Neighboring gene TLE family member 5, transcriptional modulator

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ14009, MGC14966

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
repressing transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
embryonic process involved in female pregnancy IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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

  1. NG_051563.1 RefSeqGene

    Range
    5150..22765
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143986.2NP_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
    Q9H808
    Related
    ENSP00000246112.3, ENST00000246112.9
    Conserved Domains (3) summary
    COG2319
    Location:268568
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:289325
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:282561
    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 ...
  2. NM_024760.3NP_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/Swiss-Prot
    Q9H808
    UniProtKB/TrEMBL
    Q6PJM9
    Related
    ENSP00000406893.1, ENST00000452088.5
    Conserved Domains (2) summary
    sd00039
    Location:166202
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:159438
    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

  1. 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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    2977410..2995184
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528300.2XP_011526602.1  transducin-like enhancer protein 6 isoform X1

    See identical proteins and their annotated locations for XP_011526602.1

    UniProtKB/Swiss-Prot
    Q9H808
    Conserved Domains (3) summary
    COG2319
    Location:268568
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:289325
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:282561
    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 ...
  2. XM_005259645.2XP_005259702.1  transducin-like enhancer protein 6 isoform X1

    See identical proteins and their annotated locations for XP_005259702.1

    UniProtKB/Swiss-Prot
    Q9H808
    Conserved Domains (3) summary
    COG2319
    Location:268568
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:289325
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:282561
    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 ...
  3. XM_024451724.1XP_024307492.1  transducin-like enhancer protein 6 isoform X3

    Conserved Domains (2) summary
    sd00039
    Location:116152
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:109388
    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 ...
  4. XM_024451723.1XP_024307491.1  transducin-like enhancer protein 6 isoform X2

    Conserved Domains (2) summary
    sd00039
    Location:166202
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:159438
    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 ...
  5. XM_024451722.1XP_024307490.1  transducin-like enhancer protein 6 isoform X2

    Conserved Domains (2) summary
    sd00039
    Location:166202
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:159438
    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 ...
  6. XM_011528301.2XP_011526603.1  transducin-like enhancer protein 6 isoform X2

    See identical proteins and their annotated locations for XP_011526603.1

    UniProtKB/Swiss-Prot
    Q9H808
    Conserved Domains (2) summary
    sd00039
    Location:166202
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:159438
    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 ...
Support Center