BCL11A

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. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

B Cell CLL/Lymphoma 11A

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:29606353, PubMed:26375765).
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).

Cellular response to L-glutamate Source: Ensembl
Negative regulation of axon extension Source: BHF-UCL
Negative regulation of branching morphogenesis of a nerve Source: Ensembl
Negative regulation of collateral sprouting Source: BHF-UCL
Negative regulation of dendrite development Source: BHF-UCL
Negative regulation of dendrite extension Source: Ensembl
Negative regulation of neuron projection development Source: BHF-UCL
Negative regulation of neuron remodeling Source: Ensembl
Negative regulation of protein homooligomerization Source: BHF-UCL
Negative regulation of transcription by RNA polymerase II Source: ARUK-UCL
Positive regulation of collateral sprouting Source: BHF-UCL
Positive regulation of gene expression Source: Ensembl
Positive regulation of neuron projection development Source: BHF-UCL
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
Protein sumoylation Source: UniProtKB
Regulation of dendrite development Source: BHF-UCL
Regulation of transcription by RNA polymerase II Source: GO_Central

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.

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.

Sumoylated with SUMO1.