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    L3MBTL1 l(3)mbt-like 1 (Drosophila) [ Homo sapiens (human) ]

    Gene ID: 26013, updated on 12-Mar-2017
    Official Symbol
    L3MBTL1provided by HGNC
    Official Full Name
    l(3)mbt-like 1 (Drosophila)provided by HGNC
    Primary source
    HGNC:HGNC:15905
    See related
    Ensembl:ENSG00000185513 MIM:608802; Vega:OTTHUMG00000032503
    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
    L3MBTL; ZC2HC3; H-L(3)MBT; dJ138B7.3
    Summary
    This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
    Orthologs
    Location:
    20q13.12
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (43507680..43541895)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (42136320..42179590)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene serine and arginine rich splicing factor 6 Neighboring gene RNA, U6 small nuclear 1251, pseudogene Neighboring gene transmembrane protein 14C pseudogene Neighboring gene SGK2, serine/threonine kinase 2 Neighboring gene intraflagellar transport 52

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-08-29)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-08-29)

    ClinGen Genome Curation Page
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
    • Regulation of TP53 Activity through Methylation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity through Methylation, organism-specific biosystemTP53 (p53) undergoes methylation on several lysine and arginine residues, which modulates its transcriptional activity.PRMT5, recruited to TP53 as part of the ATM-activated complex that includes TTC5...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: SGK2

    Homology

    Clone Names

    • FLJ41181, KIAA0681, DKFZp586P1522

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SAM domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    methylated histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    methylated histone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nucleosomal histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleosome binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    chromatin organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    covalent chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    hemopoiesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell cycle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of megakaryocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of mitotic nuclear division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    condensed chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    lethal(3)malignant brain tumor-like protein 1
    Names
    l(3)mbt protein homolog
    lethal (3) malignant brain tumor l(3)

    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_009238.3 RefSeqGene

      Range
      5001..39216
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015478.6NP_056293.4  lethal(3)malignant brain tumor-like protein 1 isoform I

      See identical proteins and their annotated locations for NP_056293.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (I) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant II. The encoded isoform (I) is shorter than isoform II.
      Source sequence(s)
      AK310345, BC039820, BG956397, BU741824
      Consensus CDS
      CCDS13319.1
      UniProtKB/Swiss-Prot
      Q9Y468
      Related
      ENSP00000362227, OTTHUMP00000031024, ENST00000373135, OTTHUMT00000079298
      Conserved Domains (3) summary
      smart00561
      Location:317413
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:553579
      zf-C2HC; Zinc finger, C2HC type
      cl15755
      Location:680708
      SAM_superfamily; SAM (Sterile alpha motif )
    2. NM_032107.4NP_115479.4  lethal(3)malignant brain tumor-like protein 1 isoform II

      Status: REVIEWED

      Description
      Transcript Variant: This variant (II) represents the longer transcript and encodes the longer isoform (II).
      Source sequence(s)
      AK299199, BC039820, BG956397, BU741824, DA204976, DR003568
      Consensus CDS
      CCDS46602.2
      UniProtKB/Swiss-Prot
      Q9Y468
      Related
      ENSP00000398516, ENST00000418998
      Conserved Domains (3) summary
      smart00561
      Location:385481
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam01530
      Location:621647
      zf-C2HC; Zinc finger, C2HC type
      cl15755
      Location:748776
      SAM_superfamily; SAM (Sterile alpha motif )

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      43507680..43541895
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      42040166..42074338
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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