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L3MBTL3 Gene

protein-coding   GIFtS: 53

GC06P130381
l(3)mbt-like 3 (Drosophila)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
KIAA1798 1, 3
MBT-1 2
MBT1 2
OTTHUMP00000017192 2
RP11-73O6.1 2
Descriptions
H-l(3)mbt-like protein 3
L(3)mbt-like 3 protein 3
l(3)mbt-like 3 2
l(3)mbt-like 3 (Drosophila) 2
External Ids
HGNC: 230351
Entrez Gene: 844562
UniProtKB: Q96JM73
Ensembl: ENSG000001989457
Search outside databases for aliases for L3MBTL3 gene

Previous GC identifer: GC06P130320

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --
(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

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the L3MBTL3 gene  

Entrez Gene cytogenetic band: 6q23   Ensembl cytogenetic band:  6q22.33   HGNC cytogenetic band: 6q23

L3MBTL3 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 6         GeneLoc Exon Structure

GeneLoc location for GC06P130381:     (about GC identifiers)

Start:
130,381,427 bp from pter
End:
130,504,278 bp from pter
Size:
122,852 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000006.10  NT_025741.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, 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: LMBL3_HUMAN, Q96JM7 (See protein sequence)
Recommended Name: Lethal(3)malignant brain tumor-like 3 protein  
Size: 780 amino acids; 88337 Da
Subcellular location: Nucleus (Potential)
PDB structure from and Proteopedia :
1WJQ (3D)    1WJS (3D)    
Secondary accessions: Q5VUM9 Q6P9B5
Alternative splicing: 2 isoforms:  Q96JM7-1   Q96JM7-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001007103.1  NP_115814.1  


    ENSEMBL proteins: 
    ENSP00000354526 ENSP00000357121 ENSP00000357118 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (L3MBTL3)
    Human Recombinant Proteins from Abnova (L3MBTL3)
                  OriGene Purified Recombinant Human Protein: L3MBTL3 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus NAS--
    About this table

    Antibodies for L3MBTL3: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for L3MBTL3
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (L3MBTL3), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (L3MBTL3)
    Novus Biologicals Antibodies for L3MBTL3

    Assays for L3MBTL3: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    3 InterPro domains/families:
     IPR004092 Mbt
     IPR013761 SAM_type
     IPR001660 SAM


       GeneDecks  L3MBTL3 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q96JM7

    ProtoNet protein and cluster: Q96JM7

    1 Blocks protein family: IPB001660 Sterile alpha motif SAM

    UniProtKB/Swiss-Prot: LMBL3_HUMAN, Q96JM7
    Similarity: Contains 3 MBT repeats
    Similarity: Contains 1 SAM (sterile alpha motif) domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (L3MBTL3)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): XM_027074

                  Applied Biosystems Silencer® siRNAs for L3MBTL3

                  Sigma-Aldrich siRNA for L3MBTL3  
                         Sigma-Aldrich shRNA for L3MBTL3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for L3MBTL3
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001007102
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001007102
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001007102 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_032438

    2 MGI mutant phenotypes (inferred from 1 allele(MGI details for L3mbtl3):

    hematopoietic systemlethality-prenatal/perinatal

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674 molecular_function ND--
    About this table

    (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 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    3 Interacting proteins for L3MBTL3 (Q96JM72 ENSP000003571183) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RALYLENSP000003275223STRING (score=.704)
    --Q9WMX22MINT-7048646
    --Q8V1H62MINT-68536
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045449 regulation of transcription IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for L3MBTL3

    (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 Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (L3MBTL3)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): XM_027074

                  Sigma-Aldrich siRNA for L3MBTL3  
                         Sigma-Aldrich shRNA for L3MBTL3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001007102  NM_032438  

    REFSEQ mRNAs for L3MBTL3 gene (2 alternative transcripts): 

    NM_001007102.1   NM_032438.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001007102  NM_032438  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001007102
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001007102
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001007102 

    Additional cDNA sequence: 

    AB058701.1 AK092756.1 AK094137.1 AK290219.1 BC060845.1 

    4 DOTS entries:

    DT.100689126  DT.443100  DT.99927658  DT.102824821 

    24/33 AceView cDNA sequences (see all 33 ):

    BQ373135 AA903233 AA250725 CB999994 CK429855 BC060845 AA308446 AA121480 
    AB058701 CB989189 BF979664 AL710435 AA360824 AA419583 AA253428 AK094137 
    AW271825 AA148554 AA055472 BM724153 AX747709 AA055608 BG255574 N45057 

    highest scoring ESTs for L3MBTL3:

    AA088346 AI074017 AA055472 AA055608 AA088345 AA121480 AA122367 AA148554 AA150178 AA250725 

    Unigene Cluster for L3MBTL3:

    L(3)mbt-like 3 (Drosophila)
    Hs.658051  [show with all ESTs]
    Unigene Representative Sequence: NM_032438


    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for L3MBTL3

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
    SP1:                          -                                               -                                                                     
    SP2:                                                                          -                                                                     
    SP3:                                                                                                                                                

    About this scheme

    ECgene alternative splicing isoforms for L3MBTL3

    3 Ensembl transcripts including schematic representations:
    ENST00000361794  ENST00000368139  ENST00000368136  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , 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 )
    About This Section

    L3MBTL3 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for L3MBTL3

    1 / 2 / 3

    4 probe-sets matching L3MBTL3 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    74988_at2, 3 U95-E 1 1.00 1.00 0.89 1.07 AI074017 1.00 1.00 1.00 1
    56201_at2, 3 U95-B 1 0.94 1.00 0.97 0.94 AA088346 1.00 1.00 1.00 1

    229393_at2, 3 U133-B 1 1.00 1.00 -- -- AA088346 1.00 1.00 1.00 1

    229393_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  L3MBTL3 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.658051
    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for L3MBTL3 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    chimpanzee
    (Pan troglodytes)
    L3MBTL31   -- l(3)mbt-like 3 (Drosophila) 99.74(n)
    99.87(a)
    462996  XM_518737.2  XP_518737.2 
    cow
    (Bos taurus)
    L3MBTL31   -- l(3)mbt-like 3 (Drosophila) 91.51(n)
    96.29(a)
    524334  NM_001076871.1  NP_001070339.1 
    rat
    (Rattus norvegicus)
    L3mbtl31   -- l(3)mbt-like 3 (Drosophila) 85.59(n)
    88.44(a)
    309550  XM_220113.4  XP_220113.4 
    mouse
    (Mus musculus)
    L3mbtl31, 5 105
    l(3)mbt-like 3 (Drosophila)1, 5 85.41(n)1
    88.01(a)1
    2373391  NM_172787.21  NP_766375.11 
     AI4812845  AI8533335  (see all 18)
    chicken
    (Gallus gallus)
    RCJMB04_14c241   -- l(3)mbt-like 3 (Drosophila) 74.44(n)
    75.13(a)
    421705  XM_001231543.1  XP_001231544.1 
    About this table        Species with no ortholog for L3MBTL3

    ENSEMBL Gene Tree for L3MBTL3
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for L3MBTL3 gene
    L3MBTL42  L3MBTL2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/595 NCBI SNPs in L3MBTL3 are shown (see all 595 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 249)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 6 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs93887681,2
    A,C,F,H130415795(+) TGACAA/CCAAGG 2 T/N mis111Minor allele frequency- C:0.49NA EU EA WA 978
    rs94830781,2
    F,H130380269(+) CATTCC/ATTAAG 2 -- ng514Minor allele frequency- A:0.02EU EA WA 412
    rs50178991,2
    H130414117(+) TTTCAG/AGTTGA 2 K/R mis1 ese34Minor allele frequency- A:0.00EU EA WA 412
    rs50179001,2
    H130414143(+) TAGAAG/AGGCTT 2 R/G mis14Minor allele frequency- A:0.00EU EA WA 416
    rs74510211,2
    A,C,F,H130422939(+) GATCCC/TGAGCA 2 P/P syn17Minor allele frequency- T:0.32EU EA WA NA 558
    rs77672841,2
    C,F,H130422954(+) TCTGTG/ATACTG 2 V/V syn1 ese36Minor allele frequency- A:0.00EU EA NA 440
    rs9152431,2
    A,C,F,H,O130478574(+) TAAAAG/ACCAAA 2 -- int115Minor allele frequency- A:0.10EU EA WA NA 1338
    rs19321031,2
    A,C,F,H,O130461745(-) TCGCAC/TTCTGT 2 -- int17Minor allele frequency- T:0.03EU EA WA NA 558
    rs94022141,2
    A,C,F,H130429466(+) AACCAC/TGTTTA 2 -- int14Minor allele frequency- T:0.45EU EA WA 418
    rs48973641,2
    A,C,F,H130436359(+) TAAAGC/GTTTTG 2 -- int18Minor allele frequency- G:0.46EU EA WA 836
    About this table

    HapMap Linkage Disequilibrium images for L3MBTL3 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

      --

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    9 PubMed articles for L3MBTL3 gene:
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 84456 HGNC: 23035 AceView: L3MBTL3 Ensembl:ENSG00000198945 euGenes: HUgn84456
    ECgene: L3MBTL3 H-InvDB: L3MBTL3
    (According to HUGE)
    About This Section

    HUGE: KIAA1798
    (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

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (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



    Products for L3MBTL3:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
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     Predesigned and custom siRNAs for L3MBTL3 Antibodies for L3MBTL3
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for L3MBTL3 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant Proteins
    (L3MBTL3)
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     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for L3MBTL3




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for L3MBTL3

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