Press "+" in the title bar above to open this section.
Comments and Description Text from UniProtKB
ID:BC11A_HUMAN DESCRIPTION: RecName: Full=B-cell lymphoma/leukemia 11A; Short=BCL-11A; AltName: Full=B-cell CLL/lymphoma 11A; AltName: Full=COUP-TF-interacting protein 1; AltName: Full=Ecotropic viral integration site 9 protein homolog; Short=EVI-9; AltName: Full=Zinc finger protein 856; FUNCTION: Functions as a myeloid and B-cell proto-oncogene. May play important roles in leukemogenesis and hematopoiesis. An essential factor in lymphopoiesis, is required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 (By similarity). SUBUNIT: Interacts with TFCOUP1, PIAS3, ARP1 and EAR2 (By similarity). SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Associates with the nuclear body. Colocalizes with SUMO1 and SENP2 in nuclear speckles (By similarity). TISSUE SPECIFICITY: Expressed at high levels in brain, spleen thymus, bone marrow and testis. Expressed in CD34-positive myeloid precursor cells, B-cells, monocytes and megakaryocytes. Expression is tightly regulated during B-cell development. PTM: Sumoylated with SUMO1 (By similarity). POLYMORPHISM: Genetic variation in BCL11A underlies the fetal hemoglobin quantitative trait locus 5 [MIM:142335]. It is associated with quantitative variation in the production of F cells, that is erythrocytes containing measurable amounts of fetal hemoglobin (HbF). In healthy adults, HbF is present at residual levels (less than 0.6% of total hemoglobin) with over twenty-fold variation. Ten to fifteen percent of adults in the upper tail of the distribution have HbF levels between 0.8% and 5.0%, a condition referred to as heterocellular hereditary persistence of fetal hemoglobin (hHPFH). Although these HbF levels are modest in otherwise healthy individuals, interaction of hHPFH with beta thalassemia or sickle cell disease can increase HbF output in these individuals to levels that are clinically beneficial. DISEASE: Note=Chromosomal aberrations involving BCL11A may be a cause of lymphoid malignancies. Translocation t(2;14)(p13;q32.3) causes BCL11A deregulation and amplification. SIMILARITY: Contains 6 C2H2-type zinc fingers. SEQUENCE CAUTION: Sequence=BAB47438.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BCL11AID391.html";
Protein Domain and Structure Information
Press "+" in the title bar above to open this section.
Other Names for This Gene
Press "+" in the title bar above to open this section.
Methods, Credits, and Use Restrictions
Click here
for details on how this gene model was made and data restrictions if any.
