L3MBTL

L3MBTL1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1OYX, 1OZ2, 1OZ3, 2PQW, 2RHI, 2RHU, 2RHX, 2RHY, 2RHZ, 2RI2, 2RI3, 2RI5, 2RJC, 2RJD, 2RJE, 2RJF, 3OQ5, 3P8H, 3UWN
Identifiers
Aliases	L3MBTL1 , H-L(3)MBT, L3MBTL, ZC2HC3, dJ138B7.3, l(3)mbt-like 1 (Drosophila), histone methyl-lysine binding protein, L3MBTL histone methyl-lysine binding protein 1
External IDs	OMIM: 608802; MGI: 2676663; HomoloGene: 41846; GeneCards: L3MBTL1; OMA:L3MBTL1 - orthologs
Gene location (Human) Chr. Chromosome 20 (human) [1] Band 20q13.12 Start 43,489,442 bp [1] End 43,550,950 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 H2 Start 162,943,472 bp [2] End 162,974,522 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum pituitary gland anterior pituitary subthalamic nucleus right uterine tube tongue right frontal lobe superior surface of tongue superior vestibular nucleus glutes Top expressed in hypothalamus zygote respiratory epithelium female urethra olfactory epithelium primary visual cortex superior frontal gyrus ureter striatum of neuraxis cerebellum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity histone binding zinc ion binding SAM domain binding chromatin binding metal ion binding methylated histone binding protein binding identical protein binding nucleosome binding Cellular component plasma membrane nucleolus chromatin condensed chromosome nucleus nucleoplasm Biological process regulation of transcription, DNA-templated transcription, DNA-templated regulation of cell cycle negative regulation of transcription, DNA-templated regulation of megakaryocyte differentiation regulation of mitotic nuclear division regulation of signal transduction by p53 class mediator chromatin organization hemopoiesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26013 241764 Ensembl ENSG00000185513 ENSMUSG00000035576 UniProt Q9Y468 A2A5N8 RefSeq (mRNA) NM_032107 NM_015478 NM_001081338 RefSeq (protein) NP_056293 NP_115479 NP_001074807 Location (UCSC) Chr 20: 43.49 – 43.55 Mb Chr 2: 162.94 – 162.97 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Lethal(3)malignant brain tumor-like protein is a protein that in humans is encoded by the L3MBTL gene. ^{[5] [6] [7]}

This gene encodes the homolog of a protein identified in Drosophila as a suppressor of malignant transformation of neuroblasts and ganglion mother cells in the optic centers of the brain. This gene product is localized to condensed chromosomes in mitotic cells. Overexpression of this gene in a glioma cell line results in improper nuclear segregation and cytokinesis producing multinucleated cells. Alternatively spliced transcript variants encoding different isoforms have been identified. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000185513 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000035576 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Koga H, Matsui S, Hirota T, Takebayashi S, Okumura K, Saya H (Sep 1999). "A human homolog of Drosophila lethal(3)malignant brain tumor (l(3)mbt) protein associates with condensed mitotic chromosomes". Oncogene. 18 (26): 3799–809. doi:10.1038/sj.onc.1202732. PMID   10445843. S2CID   8186230.
6. Trojer P, Li G, Sims RJ III, Vaquero A, Kalakonda N, Boccuni P, Lee D, Erdjument-Bromage H, Tempst P, Nimer SD, Wang YH, Reinberg D (Jun 2007). "L3MBTL1, a histone-methylation-dependent chromatin lock". Cell. 129 (5): 915–28. doi: 10.1016/j.cell.2007.03.048 . PMID   17540172. S2CID   16425537.
7. "Entrez Gene: L3MBTL l(3)mbt-like (Drosophila)".

Further reading

• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• MacGrogan D, Kalakonda N, Alvarez S, et al. (2004). "Structural integrity and expression of the L3MBTL gene in normal and malignant hematopoietic cells". Genes Chromosomes Cancer. 41 (3): 203–13. doi:10.1002/gcc.20087. PMID   15334543. S2CID   35563365.
• Li J, Bench AJ, Vassiliou GS, et al. (2004). "Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignancies". Proc. Natl. Acad. Sci. U.S.A. 101 (19): 7341–6. Bibcode:2004PNAS..101.7341L. doi: 10.1073/pnas.0308195101 . PMC   409920 . PMID   15123827.
• Wang WK, Tereshko V, Boccuni P, et al. (2004). "Malignant brain tumor repeats: a three-leaved propeller architecture with ligand/peptide binding pockets". Structure. 11 (7): 775–89. doi:10.1016/S0969-2126(03)00127-8. PMC   4693639 . PMID   12842041.
• Boccuni P, MacGrogan D, Scandura JM, Nimer SD (2003). "The human L(3)MBT polycomb group protein is a transcriptional repressor and interacts physically and functionally with TEL (ETV6)". J. Biol. Chem. 278 (17): 15412–20. doi: 10.1074/jbc.M300592200 . PMID   12588862.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. Bibcode:2001Natur.414..865D. doi: 10.1038/414865a . PMID   11780052.
• Fossey SC, Mychaleckyj JC, Pendleton JK, et al. (2001). "A high-resolution 6.0-megabase transcript map of the type 2 diabetes susceptibility region on human chromosome 20". Genomics. 76 (1–3): 45–57. doi:10.1006/geno.2001.6584. PMID   11549316.
• Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi: 10.1073/pnas.97.7.3491 . PMC   16267 . PMID   10737800.
• Ishikawa K, Nagase T, Suyama M, et al. (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". DNA Res. 5 (3): 169–76. doi: 10.1093/dnares/5.3.169 . PMID   9734811.

External links

• Overview of all the structural information available in the PDB for UniProt : Q9Y468 (Lethal(3)malignant brain tumor-like protein 1) at the PDBe-KB .