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

    Gene ID: 79816, updated on 3-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TLE6 in Genome Data Viewer
    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_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:2900543-2901114 Neighboring gene zinc finger protein 57 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13722 Neighboring gene zinc finger protein 77 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9819 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2982456-2982974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2982975-2983491 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:2984010-2984526 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3003179-3003325 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3006113-3007047 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3007156-3007353 Neighboring gene TLE family member 2, transcriptional corepressor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9821 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3041680-3041803 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3054606-3055171 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3057431-3057995 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3057996-3058560 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3059514-3059717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9823 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • FLJ14009, MGC14966

    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

    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)

    NEW Try the new Transcript table

    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
      J3KMZ1, Q9H808
      Related
      ENSP00000246112.3, ENST00000246112.9
      Conserved Domains (2) summary
      sd00039
      Location:289325
      7WD40; WD40 repeat [structural motif]
      cl29593
      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/TrEMBL
      A0A087X0R4, 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: 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

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      2977401..2995179
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528300.3XP_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:289325
      7WD40; WD40 repeat [structural motif]
      cl29593
      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_005259645.3XP_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:289325
      7WD40; WD40 repeat [structural motif]
      cl29593
      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_024451723.2XP_024307491.1  transducin-like enhancer protein 6 isoform X2

      UniProtKB/TrEMBL
      A0A087X0R4, Q6PJM9
      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 ...
    4. XM_024451722.2XP_024307490.1  transducin-like enhancer protein 6 isoform X2

      UniProtKB/TrEMBL
      A0A087X0R4, Q6PJM9
      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_011528301.3XP_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: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_024451724.2XP_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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      2950897..2968675
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      J3KMZ1, Q9H808
    2. XM_054322185.1XP_054178160.1  transducin-like enhancer protein 6 isoform X1

      UniProtKB/Swiss-Prot
      J3KMZ1, Q9H808
    3. XM_054322189.1XP_054178164.1  transducin-like enhancer protein 6 isoform X2

      UniProtKB/TrEMBL
      A0A087X0R4, Q6PJM9
    4. XM_054322188.1XP_054178163.1  transducin-like enhancer protein 6 isoform X2

      UniProtKB/TrEMBL
      A0A087X0R4, Q6PJM9
    5. XM_054322187.1XP_054178162.1  transducin-like enhancer protein 6 isoform X2

      UniProtKB/TrEMBL
      A0A087X0R4, Q6PJM9
    6. XM_054322190.1XP_054178165.1  transducin-like enhancer protein 6 isoform X3