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B-cell CLL/lymphoma 11A (zinc finger protein)
Identifiers
Symbols BCL11A; BCL11A-L; BCL11A-S; BCL11A-XL; CTIP1; EVI9; FLJ10173; FLJ34997; KIAA1809
External IDs OMIM606557 MGI106190 HomoloGene11284 GeneCards: BCL11A Gene
RNA expression pattern
PBB GE BCL11A 219497 s at tn.png
PBB GE BCL11A 219498 s at tn.png
PBB GE BCL11A 210347 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 53335 14025
Ensembl ENSG00000119866 ENSMUSG00000000861
UniProt Q9H165 Q3US10
RefSeq (mRNA) NM_018014 NM_016707
RefSeq (protein) NP_060484 NP_057916
Location (UCSC) Chr 2:
60.53 - 60.63 Mb
Chr 11:
23.98 - 24.07 Mb
PubMed search [1] [2]

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

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]

Contents

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 (Nov 2001). "The BCL11 gene family: involvement of BCL11A in lymphoid malignancies". Blood 98 (12): 3413–20. 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 (Feb 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. PMID 18245381.  
  3. ^ a b "Entrez Gene: BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=53335.  
  4. ^ Avram, D; Fields A, Pretty On Top K, Nevrivy D J, Ishmael J E, Leid M (Apr. 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. (UNITED STATES) 275 (14): 10315–22. ISSN 0021-9258. PMID 10744719.  

Further reading

  • "Toward a complete human genome sequence.". Genome Res. 8 (11): 1097–108. 1999. PMID 9847074.  
  • Avram D, Fields A, Pretty On Top K, et al. (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. PMID 10744719.  
  • Nakamura T, Yamazaki Y, Saiki Y, et al. (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. PMID 10757802.  
  • Saiki Y, Yamazaki Y, Yoshida M, et al. (2001). "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, et al. (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, et al. (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, et al. (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, 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. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.  
  • 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. PMID 15489334.  
  • 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. PMID 15639232.  
  • Liu H, Ippolito GC, Wall JK, et al. (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. PMID 16704730.  
  • Weniger MA, Pulford K, Gesk S, et al. (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, et al. (2007). "Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.". Genome Biology 8 (8): R154. doi:10.1186/gb-2007-8-8-r154. PMID 17672918.  

External links

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

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