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Aliases & Descriptions for L3MBTL
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases DKFZp586P1522 1 , 2 FLJ41181 2 H-L(3)MBT 2 , 3 KIAA0681 1 , 2 , 3 L(3)mbt-like 3 L3MBT 3 L3MBTL1 1 , 2 , 3 OTTHUMP00000031024 2 dJ138B7.3 1 , 2 l(3)mbt-like 2
Descriptions H-l(3)mbt protein 3 L(3)mbt protein homolog 3 l(3)mbt (Drosophila)-like 1 l(3)mbt-like (Drosophila) 2 lethal (3) malignant brain tumor l(3) 2
Search outside databases for aliases for L3MBTL genePrevious GC identifers: GC20M003219 GC20P041831 GC20P042781 GC20P042828
Summaries for L3MBTL (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for L3MBTL : This gene encodes the homolog of a protein identified in Drosophila as a suppressor of malignanttransformation of neuroblasts and ganglion-mother cells in the optic centers of the brain. Thisgene product is localized to condensed chromosomes in mitotic cells. Overexpression of this genein a glioma cell line results in improper nuclear segregation and cytokinesis producingmultinucleated cells. Alternatively spliced transcript variants encoding different isoforms havebeen identified. [provided by RefSeq] UniProtKB/Swiss-Prot: LMBL1_HUMAN, Q9Y468 Function : Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressivestate of genes, probably via a modification of chromatin, rendering it heritably changed in itsexpressibility. Participates in the ETV6-mediated repression. Probably plays a role in cellproliferation. Overexpression induces multinucleated cells, suggesting that it is required toaccomplish normal mitosis
Gene Wiki entry for L3MBTL
Genomic Location for L3MBTL
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the L3MBTL gene Entrez Gene cytogenetic band: 20q13.12 Ensembl cytogenetic band: 20q13.11 HGNC cytogenetic band: 20q13.12 L3MBTL Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 20 GeneLoc Exon Structure
GeneLoc location for GC20P041576:
(about GC identifiers )
Start:
41,576,467 bp from pter
End:
41,603,949 bp from pter
Size:
27,483 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000020.9 NT_011362.9 Proteins for L3MBTL
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: LMBL1_HUMAN, Q9Y468 (See
protein sequence )Recommended Name: Lethal(3)malignant brain tumor-like protein Size : 772 amino acids; 85917 Da
Subunit : Homodimer. Interacts with ETV6
Subcellular location : Nucleus. Note=Excluded from the nucleolus. Does not colocalizes with the PcGprotein BMI1, suggesting that these two proteins do not belong to the same complex
Developmental stage : In interphase cells, it is scattered throughout the nucleoplasm. In mitoticcells, it strongly associates with condensed chromosomes from the prophase to telophase
Sequence caution : Sequence=CAC18508.1; Type=Erroneous gene model prediction;
PDB structures from and Proteopedia : 1OYX (3D)
 1OZ2 (3D)
 1OZ3 (3D)
 2PQW (3D)
 2RHI (3D)
 2RHU (3D)
 2RHX (3D)
 2RHY (3D)
 2RHZ (3D)
 2RI2 (3D)
 2RI3 (3D)
 2RI5 (3D)
 2RJC (3D)
 2RJD (3D)
 2RJE (3D)
 2RJF (3D)
 
Secondary accessions : Q5H8Y8 Q8IUV7 Q9H1E6 Q9H1G5 Q9UG06 Q9UJB9 Q9Y4C9Alternative splicing : 4 isoforms : Q9Y468-1 Q9Y468-2 Q9Y468-3 Q9Y468-4
REFSEQ proteins (2 alternative transcripts):
NP_056293.4 NP_115479.3 ENSEMBL proteins: ENSP00000362227 ENSP00000362226 ENSP00000362225 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 1 Gene Ontology (GO) cellular component term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005634 nucleus
IEA --
About this table Antibodies for L3MBTL: Assays for L3MBTL:
Protein
Domains/ Families for L3MBTL(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q9Y468 ProtoNet protein and cluster: Q9Y468
UniProtKB/Swiss-Prot: LMBL1_HUMAN, Q9Y468 Similarity : Contains 1 C2HC-type zinc fingerSimilarity : Contains 3 MBT repeats
Gene Function for L3MBTL
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
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Sigma-Aldrich ,
RNAi Products ,
Clones , and
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Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_015478 Applied Biosystems Silencer ® siRNAs for L3MBTL Sigma-Aldrich siRNA for L3MBTL Sigma-Aldrich shRNA for L3MBTL Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_015478                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_015478                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_015478  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_015478 UniProtKB/Swiss-Prot: LMBL1_HUMAN, Q9Y468 Function : Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressivestate of genes, probably via a modification of chromatin, rendering it heritably changed in itsexpressibility. Participates in the ETV6-mediated repression. Probably plays a role in cellproliferation. Overexpression induces multinucleated cells, suggesting that it is required toaccomplish normal mitosis
4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for L3MBTL
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for L3MBTL 5/28 Interacting proteins for L3MBTL (ENSP00000362227 3 Q9Y468 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 28
)Interactant Interaction Details GeneCard External ID(s) HIST1H4F P62805 1 , 2 STRING (score=.865 ) EBI-1265089, EBI-302023 MINT-2830429 HIST1H1E P10412 1 STRING (score=.899 ) EBI-1265089, EBI-358163 HIST1H4B P62805 1 , 2 EBI-1265089, EBI-302023 MINT-2830429 HIST1H4C P62805 1 , 2 EBI-1265089, EBI-302023 MINT-2830429 HIST1H4D P62805 1 , 2 EBI-1265089, EBI-302023 MINT-2830429 HIST1H4E P62805 1 , 2 EBI-1265089, EBI-302023 MINT-2830429
About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0006355 regulation of transcription, DNA-dependent
IEA -- GO:0016568 chromatin modification
IEA --
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PharmGKB )
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Transcripts for L3MBTL(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
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siRNAs from Applied Biosystems ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_015478 Sigma-Aldrich siRNA for L3MBTL Sigma-Aldrich shRNA for L3MBTL Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_015478 NM_032107
REFSEQ mRNAs for L3MBTL gene (2 alternative transcripts): NM_015478.5 NM_032107.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_015478 NM_032107
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_015478                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_015478                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_015478  
Additional cDNA sequence: AB014581.1 AK299199.1 AK308334.1 AK310345.1 BC034398.1 BC039820.1 CR596734.1 CR622260.1
11 DOTS entries : DT.454846 DT.97787327 DT.108537 DT.40188435 DT.91759018 DT.97798646 DT.108538 DT.40308245 DT.86842861 DT.446663 DT.86846672
24/83 AceView cDNA sequences (see all 83
):AI223099 T24783 BU741824 BU690058 CR596734 AA907142 AA814378 NM_032107 AK123176 CR622260 BU609129 AA505406 AA778664 BM729294 BE394474 BC039820 BU849880 AI539731 NM_015478 AL110279 AA764969 AW207373 AW592566 AA584868
highest scoring ESTs for L3MBTL :U89358 AB014581 AL110279 AW236679 BU741824 AK123176 BX435633 DB298192 AA764969 AA814378
Unigene Cluster for L3MBTL: L(3)mbt-like (Drosophila) Hs.709356 [show with all ESTs ] Unigene Representative Sequence: AB014581 GeneLoc Exon Structure 5/9 Alternative Splicing Database (ASD) splice patterns (SP) for L3MBTL (see all 9
) ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · SP1 :                 -     -             -             -         SP2 :                                 -   -           -         SP3 :                                                     SP4 :                 -   -   -                                 SP5 :                           -   -   -   -   -   -                
ExUns: 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b SP1 :     -           SP2 :               SP3 :               SP4 :               SP5 :              
About this scheme ECgene alternative splicing isoforms for L3MBTL 3 Ensembl transcripts including schematic representations : ENST00000373135
ENST00000373134
ENST00000373133
Expression for L3MBTL
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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L3MBTL expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for L3MBTL 1 / 2 / 3
13 probe-sets matching L3MBTL gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TCACAGGCAASOURCE GeneReport for Unigene cluster: Hs.709356 Expression variation in blood from EXPOLDB for L3MBTL
UniProtKB/Swiss-Prot: LMBL1_HUMAN, Q9Y468 Tissue specificity : Widely expressed. Expression is reduced in colorectal cancer cell line SW480and promyelocytic leukemia cell line HL-60
Orthologs for L3MBTL
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for L3MBTL gene from 5/6 species (see all 6
)
About this table Species with no ortholog for L3MBTL ENSEMBL Gene Tree for L3MBTL Paralogs for L3MBTL (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for L3MBTL gene L3MBTL4 2 L3MBTL3 2
SNPs/Variants for L3MBTL (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for L3MBTL (up to first 250kb)
Disorders & Mutations for L3MBTL
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 608802 4 Novoseek disease relationships for L3MBTL gene
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Medical News for L3MBTL (Possibly Related Articles in
Doctor's Guide )
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--
Publications for L3MBTL (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/20 PubMed articles for L3MBTL gene (see all 20
): A human homolog of Drosophila lethal(3)malignant brain tumor (l(3)mbt) protein associates with condensed mitotic chromosomes. (PubMed id 10445843) 1, 2, 3, 4 Koga H.... Saya H. (1999) The human L(3)MBT Polycomb group protein is a transcriptional repressor and interacts physically and functionally with TEL (ETV6). (PubMed id 12588862) 1, 3, 4 Boccuni P.... Nimer S.D. (2003) L3MBTL1, a histone-methylation-dependent chromatin lock. (PubMed id 17540172) 2, 3 Trojer P....Reinberg D. (2007) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Malignant brain tumor repeats: a three-leaved propeller architecture with ligand/peptide binding pockets. (PubMed id 12842041) 3, 4 Wang W.K....Patel D.J. (2003) The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052) 3, 4 Deloukas P....Rogers J. (2001) Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811) 3, 4 Ishikawa K....Ohara O. (1998) Structural integrity and expression of the L3MBTL gene in normal and malignant hematopoietic cells. (PubMed id 15334543) 1, 3 MacGrogan D....Nimer S.D. (2004) Histone H4 lysine 20 monomethylation promotes transcriptional repression by L3MBTL1. (PubMed id 18408754) 3 Kalakonda N....Nimer S.D. (2008) Structural basis for lower lysine methylation state-specific readout by MBT repeats of L3MBTL1 and an engineered PHD finger. (PubMed id 18042461) 3 Li H....Patel D.J. (2007)
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Genome Databases showing L3MBTL
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing L3MBTL
(According to HUGE )
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Specialized Databases showing L3MBTL (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for L3MBTL (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Location for L3MBTL
Medical News for L3MBTL
Orthologs for L3MBTL
Paralogs for L3MBTL
Pathways/Interactions for L3MBTL
Proteins for L3MBTL
Publications for L3MBTL
SNPs for L3MBTL
Search Box for L3MBTL
Services for L3MBTL
Summaries for L3MBTL
Technologies for L3MBTL
Transcripts for L3MBTL
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009