Property Summary

NCBI Gene PubMed Count 32
PubMed Score 274.05
PubTator Score 27.43

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
ependymoma 1.700 2.9e-03
oligodendroglioma 1.400 2.9e-03
osteosarcoma -2.089 9.6e-05
medulloblastoma -2.000 9.4e-04
atypical teratoid / rhabdoid tumor -1.100 2.1e-02
glioblastoma -2.000 2.2e-04
medulloblastoma, large-cell -3.000 5.3e-04
lung cancer 2.100 9.2e-03
pediatric high grade glioma -1.500 5.2e-04
lung adenocarcinoma 1.400 4.1e-05
ovarian cancer -1.200 6.5e-07

MLP Assay (3)

AID Type Active / Inconclusive / Inactive Description
485292 summary 0 / 0 / 0 Probe Development Summary for Inhibitors of L3MBTL1
485360 confirmatory 1495 / 6845 / 217165 qHTS Assay for the Inhibitors of L3MBTL1
540279 confirmatory 454 / 44 / 0 qHTS Assay for the Inhibitors of L3MBTL1: Hit Validation

Gene RIF (14)

PMID Text
25754204 The polycomb group protein L3MBTL1 represses a SMAD5-mediated hematopoietic transcriptional program in human pluripotent stem cells.
24243547 Data indicate that germline genes, some of which drive oncogenesis in Drosophila melanogaster, are similarly ectopically activated in a wide range of human cancers.
21837478 High expression of L3MBTL1 was associated with low grade and hormone receptor-positive tumors, as well as low risk of disease recurrence and breast cancer death.
21341991 depletion of L3MBTL1 does not affect hESC self-renewal, rather it enhances differentiation toward extra-embryonic trophoblast tissues
21149733 Data suggest that the loss of L3MBTL1 contributes to the development of 20q(-) hematopoietic malignancies by inducing replicative stress, DNA damage, and genomic instability.
20870725 SET8-mediated methylation of p53 at Lys-382 promotes the interaction between L3MBTL1 and p53 in cells.
20585043 haploinsufficiency of L3MBTL1 contributes to some (20q-) myeloproliferative neoplasms, especially polycythemia vera, by promoting erythroid differentiation
18408754 H4K20 monomethylation and PR-SET7 are important for L3MBTL1 function
18042461 The structural and binding studies of the two modules provide insights into the molecular principles governing the decoding of lysine methylation states, thereby highlighting a methylation state-specific layer of histone mark readout.
18026117 An unexpected mode of peptide-mediated dimerization suggests a possible mechanism for chromatin compaction by L3MBTL1
17540172 The MBT domain is related to protein domains that directly bind methylated histone residues and study found that L3MBTL1 MBT domains compact nucleosomal arrays dependent on mono- and dimethylation of histone H4 lysine 20 and of histone H1b lysine 26.
15334543 L3MBTL may have a role in myeloid leukemia
15123827 represents a previously undescribed imprinted locus, a vertebrate Polycomb group gene shown to be regulated by this mechanism, and has implications for the pathogenesis of myeloid malignancies associated with 20q deletions
12588862 The ability of TEL to repress TEL-responsive promoters is enhanced by the presence of H-L(3)MBT, an effect dependent on the H-L(3)MBT and the TEL interacting domains, which are mapped to their respective SPM/SAM domains.

AA Sequence

MRRREGHGTDSEMGQGPVRESQSSDPPALQFRISEYKPLNMAGVEQPPSPELRQEGVTEYEDGGAPAGDG      1 - 70
EAGPQQAEDHPQNPPEDPNQDPPEDDSTCQCQACGPHQAAGPDLGSSNDGCPQLFQERSVIVENSSGSTS     71 - 140
ASELLKPMKKRKRREYQSPSEEESEPEAMEKQEEGKDPEGQPTASTPESEEWSSSQPATGEKKECWSWES    141 - 210
YLEEQKAITAPVSLFQDSQAVTHNKNGFKLGMKLEGIDPQHPSMYFILTVAEVCGYRLRLHFDGYSECHD    211 - 280
FWVNANSPDIHPAGWFEKTGHKLQPPKGYKEEEFSWSQYLRSTRAQAAPKHLFVSQSHSPPPLGFQVGMK    281 - 350
LEAVDRMNPSLVCVASVTDVVDSRFLVHFDNWDDTYDYWCDPSSPYIHPVGWCQKQGKPLTPPQDYPDPD    351 - 420
NFCWEKYLEETGASAVPTWAFKVRPPHSFLVNMKLEAVDRRNPALIRVASVEDVEDHRIKIHFDGWSHGY    421 - 490
DFWIDADHPDIHPAGWCSKTGHPLQPPLGPREPSSASPGGCPPLSYRSLPHTRTSKYSFHHRKCPTPGCD    491 - 560
GSGHVTGKFTAHHCLSGCPLAERNQSRLKAELSDSEASARKKNLSGFSPRKKPRHHGRIGRPPKYRKIPQ    561 - 630
EDFQTLTPDVVHQSLFMSALSAHPDRSLSVCWEQHCKLLPGVAGISASTVAKWTIDEVFGFVQTLTGCED    631 - 700
QARLFKDEMIDGEAFLLLTQADIVKIMSVKLGPALKIYNAILMFKNADDTLK                      701 - 752
//

Text Mined References (35)

PMID Year Title
25754204 2015 The polycomb group protein L3MBTL1 represses a SMAD5-mediated hematopoietic transcriptional program in human pluripotent stem cells.
24243547 2014 Meta-analysis of expression of l(3)mbt tumor-associated germline genes supports the model that a soma-to-germline transition is a hallmark of human cancers.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22120668 2011 The AAA-ATPase VCP/p97 promotes 53BP1 recruitment by removing L3MBTL1 from DNA double-strand breaks.
21837478 2012 Physical activity and breast cancer survival: an epigenetic link through reduced methylation of a tumor suppressor gene L3MBTL1.
21341991 2011 L3MBTL1 deficiency directs the differentiation of human embryonic stem cells toward trophectoderm.
21149733 2010 L3MBTL1 polycomb protein, a candidate tumor suppressor in del(20q12) myeloid disorders, is essential for genome stability.
20870725 2010 The MBT repeats of L3MBTL1 link SET8-mediated p53 methylation at lysine 382 to target gene repression.
20870719 2010 Methylation of the retinoblastoma tumor suppressor by SMYD2.
20622853 2010 Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.
20585043 2010 Depletion of L3MBTL1 promotes the erythroid differentiation of human hematopoietic progenitor cells: possible role in 20q- polycythemia vera.
19144645 2009 Dynamic Histone H1 Isotype 4 Methylation and Demethylation by Histone Lysine Methyltransferase G9a/KMT1C and the Jumonji Domain-containing JMJD2/KDM4 Proteins.
18474616 2008 PR-Set7 establishes a repressive trans-tail histone code that regulates differentiation.
18408754 2008 Histone H4 lysine 20 monomethylation promotes transcriptional repression by L3MBTL1.
18042461 2007 Structural basis for lower lysine methylation state-specific readout by MBT repeats of L3MBTL1 and an engineered PHD finger.
18026117 2007 L3MBTL1 recognition of mono- and dimethylated histones.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17540172 2007 L3MBTL1, a histone-methylation-dependent chromatin lock.
16415788 2006 Tudor, MBT and chromo domains gauge the degree of lysine methylation.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15790807 2005 Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution.
15566354 2004 Characterization of the imprinted polycomb gene L3MBTL, a candidate 20q tumour suppressor gene, in patients with myeloid malignancies.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15334543 2004 Structural integrity and expression of the L3MBTL gene in normal and malignant hematopoietic cells.
15123827 2004 Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignancies.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12842041 2003 Malignant brain tumor repeats: a three-leaved propeller architecture with ligand/peptide binding pockets.
12588862 2003 The human L(3)MBT polycomb group protein is a transcriptional repressor and interacts physically and functionally with TEL (ETV6).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
11549316 2001 A high-resolution 6.0-megabase transcript map of the type 2 diabetes susceptibility region on human chromosome 20.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
10445843 1999 A human homolog of Drosophila lethal(3)malignant brain tumor (l(3)mbt) protein associates with condensed mitotic chromosomes.
9734811 1998 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.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.