BCL11A

B-cell CLL/lymphoma 11A (zinc finger protein)
Identifiers
Symbols	BCL11A ; BCL11A-L; BCL11A-S; BCL11A-XL; BCL11a-M; CTIP1; EVI9; HBFQTL5; ZNF856
External IDs	OMIM: 606557 MGI: 106190 HomoloGene: 11284 GeneCards: BCL11A Gene
Gene ontology Molecular function • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding • transcription corepressor activity • protein binding • protein homodimerization activity • metal ion binding • protein heterodimerization activity Cellular component • nucleus • nucleoplasm • cytoplasm Biological process • negative regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated • positive regulation of neuron projection development • negative regulation of neuron projection development • protein sumoylation • B cell differentiation • T cell differentiation • negative regulation of axon extension • negative regulation of protein homooligomerization • positive regulation of transcription from RNA polymerase II promoter • negative regulation of collateral sprouting • positive regulation of collateral sprouting • regulation of dendrite development • negative regulation of dendrite development Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	53335	14025
Ensembl	ENSG00000119866	ENSMUSG00000000861
UniProt	Q9H165	Q9QYE3
RefSeq (mRNA)	NM_018014	NM_001159289
RefSeq (protein)	NP_060484	NP_001152761
Location (UCSC)	Chr 2: 60.45 – 60.55 Mb	Chr 11: 24.08 – 24.17 Mb
PubMed search

B-cell lymphoma/leukemia 11A is a protein that in humans is encoded by the BCL11A gene.^[1][2][3]

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.^[3]

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.^[4]

References

1. Satterwhite E, Sonoki T, Willis TG, Harder L, Nowak R, Arriola EL, Liu H, Price HP, Gesk S, Steinemann D, Schlegelberger B, Oscier DG, Siebert R, Tucker PW, Dyer MJ (November 2001). "The BCL11 gene family: involvement of BCL11A in lymphoid malignancies". Blood 98 (12): 3413–20. doi:10.1182/blood.V98.12.3413. PMID 11719382.
2. Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A (February 2008). "Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia". Proc. Natl. Acad. Sci. U.S.A. 105 (5): 1620–5. doi:10.1073/pnas.0711566105. PMC 2234194. PMID 18245381.
3. "Entrez Gene: BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)".
4. 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.

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.
• 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.
• 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.

External links

• BCL11A protein, human at the US 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.