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B-cell lymphoma/leukemia 11A (B-cell CLL/lymphoma 11A, COUP-TF-interacting protein 1, ecotropic viral integration site 9 protein homolog, EVI-9, BCL11A ,CTIP1, EVI9, KIAA1809)
Function:
- myeloid & B-cell proto-oncogene
- roles in leukemogenesis & hematopoiesis
- factor in lymphopoiesis
- required for B-cell formation in fetal liver
- modulates transcriptional repression activity of ARP1 (putative)
- interacts with TFCOUP1, ARP1 & EAR2
Structure:
- contains 6 C2H2-type zinc fingers
Compartment: cytoplasm, nucleus
Alternative splicing: named isoforms=7
Expression:
- expressed at high levels in brain, spleen thymus, bone marrow & testis
- expressed in CD34-positive myeloid precursor cells, B-cells, monocytes, & megakaryoctes
- expression is tightly regulated during B-cell development
Pathology:
- chromosomal translocation t(2;14)(p13;q32.3) involving BCL11A results in BCL11A deregulation & amplification & may be a cause of lymphoid malignancies
General
bcl protein (B-cell leukemia/lymphoma protein)
C2H2 type zinc finger protein
Properties
SIZE: MW = 91 kD
entity length = 835 aa
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: Zn finger C2H2-type
SITE: 170-193
EFFECTOR-BOUND: Zn+2
proline-rich region
SITE: 260-373
MOTIF: proline residue (SEVERAL)
Zn finger C2H2-type
SITE: 377-399
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 405-429
EFFECTOR-BOUND: Zn+2
glutamate-rich region {481-509}
MOTIF: glutamate residue (SEVERAL)
Zn finger C2H2-type
SITE: 742-764
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 770-792
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 800-823
EFFECTOR-BOUND: Zn+2
Database Correlations
OMIM 606557
UniProt Q9H165
Pfam PF00096
References
- UniProt :accession Q9H165
- Atlas of Genetics and Cytogenetics in Oncology and Haematology
http://atlasgeneticsoncology.org/Genes/BCL11AID391.html