BCL11A

BCL11A
Identifiers
Aliases	BCL11A, BCL11A-L, BCL11A-S, BCL11A-XL, BCL11a-M, CTIP1, EVI9, HBFQTL5, ZNF856, B-cell CLL/lymphoma 11A, DILOS, B cell CLL/lymphoma 11A, BAF complex component, BAF chromatin remodeling complex subunit SMARCM1
External IDs	OMIM: 606557 MGI: 106190 HomoloGene: 11284 GeneCards: BCL11A
Gene location (Human) Chr. Chromosome 2 (human) Band 2p16.1 Start 60,450,520 bp End 60,554,467 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 A3.2 Start 24,078,056 bp End 24,174,123 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence Brodmann area 23 middle temporal gyrus postcentral gyrus Region I of hippocampus proper superior frontal gyrus thymus orbitofrontal cortex entorhinal cortex oral cavity Top expressed in barrel cortex ganglionic eminence piriform cortex primary motor cortex subiculum medial ganglionic eminence olfactory tubercle Region I of hippocampus proper olfactory bulb nucleus accumbens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity metal ion binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific protein binding protein heterodimerization activity nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity protein kinase binding sequence-specific DNA binding Cellular component cytoplasm nucleoplasm nucleus postsynaptic density Biological process negative regulation of protein homooligomerization negative regulation of neuron projection development regulation of transcription, DNA-templated regulation of dendrite development negative regulation of transcription by RNA polymerase II positive regulation of collateral sprouting protein sumoylation transcription, DNA-templated negative regulation of collateral sprouting positive regulation of neuron projection development negative regulation of axon extension signal transduction positive regulation of transcription by RNA polymerase II neurogenesis negative regulation of dendrite development positive regulation of gene expression negative regulation of dendrite extension negative regulation of neuron remodeling cellular response to L-glutamate negative regulation of branching morphogenesis of a nerve Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 53335 14025 Ensembl ENSG00000119866 ENSMUSG00000000861 UniProt Q9H165 Q9QYE3 RefSeq (mRNA) NM_018014 NM_022893 NM_138553 NM_138559 NM_001363864 NM_001365609 NM_001159289 NM_001159290 NM_001242934 NM_016707 RefSeq (protein) NP_060484 NP_075044 NP_612569 NP_001350793 NP_001352538 NP_001152761 NP_001152762 NP_001229863 NP_057916 Location (UCSC) Chr 2: 60.45 – 60.55 Mb Chr 11: 24.08 – 24.17 Mb PubMed search
Wikidata
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B-cell lymphoma/leukemia 11A is a protein that in humans is encoded by the BCL11A gene.

Function

This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Five alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been reported.

In addition to the functions described above, BCL11A has been found to play a role in the suppression of fetal hemoglobin production. Therapeutic strategies aimed at increasing fetal globin production in diseases such as beta thalassemia and sickle cell anemia by inhibiting BCL11A are currently being explored.

Interactions

BCL11A has been shown to interact with COUP-TFI.

Further reading

• "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1998. doi:10.1101/gr.8.11.1097. PMID 9847074.
• Avram D, Fields A, Pretty On Top K, Nevrivy DJ, Ishmael JE, Leid M (2000). "Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors". J. Biol. Chem. 275 (14): 10315–22. doi:10.1074/jbc.275.14.10315. PMC 2819356. PMID 10744719.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Nakamura T, Yamazaki Y, Saiki Y, Moriyama M, Largaespada DA, Jenkins NA, Copeland NG (2000). "Evi9 encodes a novel zinc finger protein that physically interacts with BCL6, a known human B-cell proto-oncogene product". Mol. Cell. Biol. 20 (9): 3178–86. doi:10.1128/MCB.20.9.3178-3186.2000. PMC 85612. PMID 10757802.
• Saiki Y, Yamazaki Y, Yoshida M, Katoh O, Nakamura T (2000). "Human EVI9, a homologue of the mouse myeloid leukemia gene, is expressed in the hematopoietic progenitors and down-regulated during myeloid differentiation of HL60 cells". Genomics. 70 (3): 387–91. doi:10.1006/geno.2000.6385. PMID 11161790.
• Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
• Martín-Subero JI, Gesk S, Harder L, Sonoki T, Tucker PW, Schlegelberger B, Grote W, Novo FJ, Calasanz MJ, Hansmann ML, Dyer MJ, Siebert R (2002). "Recurrent involvement of the REL and BCL11A loci in classical Hodgkin lymphoma". Blood. 99 (4): 1474–7. doi:10.1182/blood.V99.4.1474. PMID 11830502.
• Küppers R, Sonoki T, Satterwhite E, Gesk S, Harder L, Oscier DG, Tucker PW, Dyer MJ, Siebert R (2002). "Lack of somatic hypermutation of IG V(H) genes in lymphoid malignancies with t(2;14)(p13;q32) translocation involving the BCL11A gene". Leukemia. 16 (5): 937–9. doi:10.1038/sj.leu.2402480. PMID 11986957.
• Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA (2002). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Senawong T, Peterson VJ, Leid M (2005). "BCL11A-dependent recruitment of SIRT1 to a promoter template in mammalian cells results in histone deacetylation and transcriptional repression". Arch. Biochem. Biophys. 434 (2): 316–25. doi:10.1016/j.abb.2004.10.028. PMC 2819353. PMID 15639232.
• Liu H, Ippolito GC, Wall JK, Niu T, Probst L, Lee BS, Pulford K, Banham AH, Stockwin L, Shaffer AL, Staudt LM, Das C, Dyer MJ, Tucker PW (2006). "Functional studies of BCL11A: characterization of the conserved BCL11A-XL splice variant and its interaction with BCL6 in nuclear paraspeckles of germinal center B cells". Mol. Cancer. 5: 18. doi:10.1186/1476-4598-5-18. PMC 1526750. PMID 16704730.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Weniger MA, Pulford K, Gesk S, Ehrlich S, Banham AH, Lyne L, Martin-Subero JI, Siebert R, Dyer MJ, Möller P, Barth TF (2006). "Gains of the proto-oncogene BCL11A and nuclear accumulation of BCL11A(XL) protein are frequent in primary mediastinal B-cell lymphoma". Leukemia. 20 (10): 1880–2. doi:10.1038/sj.leu.2404324. PMID 16871282.
• Szafranski K, Schindler S, Taudien S, Hiller M, Huse K, Jahn N, Schreiber S, Backofen R, Platzer M (2007). "Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns". Genome Biol. 8 (8): R154. doi:10.1186/gb-2007-8-8-r154. PMC 2374985. PMID 17672918.{{cite journal}}: CS1 maint: unflagged free DOI (link)

External links

• BCL11A+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• FactorBook BCL11A

This article incorporates text from the United States National Library of Medicine, which is in the public domain.