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

Gene ID: 26013, updated on 8-May-2016
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 HPRD:16387; 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
107 current GRCh38.p2 (GCF_000001405.28) 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 eukaryotic translation initiation factor 4E binding protein 2 pseudogene 1 Neighboring gene serine/arginine-rich splicing factor 6 Neighboring gene SGK2, serine/threonine kinase 2 Neighboring gene intraflagellar transport 52

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 modification IDA
Inferred from Direct Assay
more info
PubMed 
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
    pfam01530
    Location:552581
    zf-C2HC; Zinc finger, C2HC type
    smart00561
    Location:317413
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    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
    pfam01530
    Location:620649
    zf-C2HC; Zinc finger, C2HC type
    smart00561
    Location:385481
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    cl15755
    Location:748776
    SAM_superfamily; SAM (Sterile alpha motif )

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p2 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)