BCL11A
Domain
The N-terminus is involved in protein dimerization and in transactivation of transcription.
The C-terminus of isoform 2 is necessary for isoform 2 interaction with TBR1.
Zinc finger domains are necessary for sequence-specific binding to DNA.
Function
Transcription factor (PubMed:16704730, PubMed:29606353). Associated with the BAF SWI/SNF chromatin remodeling complex (PubMed:23644491). Binds to the 5'-TGACCA-3' sequence motif in regulatory regions of target genes, including a distal promoter of the HBG1 hemoglobin subunit gamma-1 gene (PubMed:29606353). Involved in regulation of the developmental switch from gamma- to beta-globin, probably via direct repression of HBG1; hence indirectly repressing fetal hemoglobin (HbF) level (PubMed:26375765, PubMed:29606353). Involved in brain development (PubMed:27453576). May play a role in hematopoiesis (By similarity). Essential factor in lymphopoiesis required for B-cell formation in fetal liver (By similarity). May function as a modulator of the transcriptional repression activity of NR2F2 (By similarity).
Involvement in disease
Chromosomal aberrations involving BCL11A are associated with B-cell malignancies. Translocation t(2;14)(p13;q32.3) causes BCL11A deregulation and overexpression.
Intellectual developmental disorder with persistence of fetal hemoglobin
IDPFH
An autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Sumoylated with SUMO1.
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.
Isoform 1
Expressed in fetal and adult brain, and in the plasmacytoid dendritic cell.
Cellular localization
- Cytoplasm
- Nucleus
- Chromosome
- Associates with the nuclear body. Colocalizes with SUMO1 and SENP2 in nuclear speckles (By similarity).
- Isoform 1
- Nucleus matrix
- Colocalizes with BCL6 in nuclear paraspeckles.
- Isoform 2
- Cytoplasm
- Nucleus
- Predominantly localized in the nucleus in nuclear paraspeckles.
- Isoform 3
- Cytoplasm
- Nucleus
- Predominantly localized in the cytoplasm in the absence of interaction with isoform 1 and isoform 2. In presence of isoform 1 or isoform 2, translocates from the cytoplasm into nuclear paraspeckles.
Alternative names
CTIP1, EVI9, KIAA1809, ZNF856, BCL11A, B-cell lymphoma/leukemia 11A, BCL-11A, B-cell CLL/lymphoma 11A, COUP-TF-interacting protein 1, Ecotropic viral integration site 9 protein homolog, Zinc finger protein 856, EVI-9