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

Gene ID: 26013, updated on 8-Feb-2015
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
See L3MBTL1 in MapViewer
Location:
20q13.12
Exon count:
22
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 serum/glucocorticoid regulated 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
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 
sequence-specific DNA binding transcription factor activity 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 
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 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
lethal(3)malignant brain tumor-like protein 1
Names
lethal(3)malignant brain tumor-like protein 1
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_009238.2 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 proteins identical to 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38 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)

Alternate HuRef

Genomic

  1. AC_000152.1 Alternate HuRef

    Range
    38872453..38906163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)