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Open Access Articles- Top Results for BCL11A

BCL11A

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Identifiers
SymbolsBCL11A ; BCL11A-L; BCL11A-S; BCL11A-XL; BCL11a-M; CTIP1; EVI9; HBFQTL5; ZNF856
External IDsOMIM606557 MGI106190 HomoloGene11284 GeneCards: BCL11A Gene
RNA expression pattern
File:PBB GE BCL11A 219497 s at tn.png
File:PBB GE BCL11A 219498 s at tn.png
File:PBB GE BCL11A 210347 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez5333514025
EnsemblENSG00000119866ENSMUSG00000000861
UniProtQ9H165Q9QYE3
RefSeq (mRNA)NM_018014NM_001159289
RefSeq (protein)NP_060484NP_001152761
Location (UCSC)Chr 2:
60.68 – 60.78 Mb
Chr 11:
24.08 – 24.17 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]

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 et al. (November 2001). "The BCL11 gene family: involvement of BCL11A in lymphoid malignancies". Blood 98 (12): 3413–20. PMID 11719382. doi:10.1182/blood.V98.12.3413. 
  2. Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W et al. (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. PMC 2234194. PMID 18245381. doi:10.1073/pnas.0711566105. 
  3. 3.0 3.1 "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. PMC 2819356. PMID 10744719. doi:10.1074/jbc.275.14.10315. 

Further reading

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External links

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


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