BCL11B

BCL11B
Identifiers
Aliases	BCL11B, ATL1, ATL1-alpha, ATL1-beta, ATL1-delta, ATL1-gamma, CTIP-2, CTIP2, RIT1, ZNF856B, hRIT1-alpha, B-cell CLL/lymphoma 11B, IMD49, B cell CLL/lymphoma 11B, IDDFSTA, BAF complex component, BAF chromatin remodeling complex subunit SMARCM2
External IDs	OMIM: 606558 MGI: 1929913 HomoloGene: 10974 GeneCards: BCL11B
Gene location (Human) Chr. Chromosome 14 (human) Band 14q32.2 Start 99,169,287 bp End 99,272,197 bp
Gene location (Mouse) Chr. Chromosome 12 (mouse) Band 12 F1|12 59.1 cM Start 107,876,662 bp End 107,969,861 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in thymus nipple vulva secondary oocyte ganglionic eminence gums Region I of hippocampus proper jejunal mucosa human penis oral cavity Top expressed in medial ganglionic eminence Region I of hippocampus proper olfactory tubercle nucleus accumbens thymus temporal lobe globus pallidus amygdala Paneth cell trigeminal ganglion More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific metal ion binding RNA polymerase II cis-regulatory region sequence-specific DNA binding protein binding nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity Cellular component intracellular anatomical structure neuron projection nucleus Biological process commitment of neuronal cell to specific neuron type in forebrain regulation of neuron differentiation neurogenesis olfactory bulb axon guidance regulation of transcription, DNA-templated T cell differentiation in thymus axonogenesis epithelial cell morphogenesis thymus development T cell receptor V(D)J recombination negative regulation of apoptotic process transcription by RNA polymerase II post-embryonic development positive T cell selection transcription, DNA-templated striatal medium spiny neuron differentiation odontogenesis of dentin-containing tooth regulation of lipid metabolic process keratinocyte development post-embryonic camera-type eye development central nervous system neuron differentiation regulation of gene expression alpha-beta T cell differentiation regulation of keratinocyte proliferation signal transduction negative regulation of cell population proliferation positive regulation of transcription by RNA polymerase II skin development hematopoietic stem cell migration lymphoid lineage cell migration into thymus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64919 58208 Ensembl ENSG00000127152 ENSMUSG00000048251 UniProt Q9C0K0 Q99PV8 RefSeq (mRNA) NM_001282237 NM_001282238 NM_022898 NM_138576 NM_001079883 NM_001286343 NM_021399 RefSeq (protein) NP_001269166 NP_001269167 NP_075049 NP_612808 NP_001073352 NP_001273272 NP_067374 Location (UCSC) Chr 14: 99.17 – 99.27 Mb Chr 12: 107.88 – 107.97 Mb PubMed search
Wikidata
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B-cell lymphoma/leukemia 11B is a protein that in humans is encoded by the BCL11B gene.

Function

This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. The specific function of this gene has not yet been determined, but it could also be involved in some malignancies. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported.

Recent research suggests that BCL11B is crucial for ameloblasts (the cells that produce tooth enamel) to form and work properly.

Interactions

BCL11B has been shown to interact with COUP-TFI.

Further reading

• 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. doi:10.1074/jbc.275.14.10315. PMC 2819356. PMID 10744719.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Avram D, Fields A, Senawong T, Topark-Ngarm A, Leid M (2002). "COUP-TF (chicken ovalbumin upstream promoter transcription factor)-interacting protein 1 (CTIP1) is a sequence-specific DNA binding protein". Biochem. J. 368 (Pt 2): 555–63. doi:10.1042/BJ20020496. PMC 1223006. PMID 12196208.
• Wakabayashi Y, Inoue J, Takahashi Y, Matsuki A, Kosugi-Okano H, Shinbo T, Mishima Y, Niwa O, Kominami R (2003). "Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas". Biochem. Biophys. Res. Commun. 301 (2): 598–603. doi:10.1016/S0006-291X(02)03069-3. PMID 12565905.
• Rohr O, Lecestre D, Chasserot-Golaz S, Marban C, Avram D, Aunis D, Leid M, Schaeffer E (2003). "Recruitment of Tat to heterochromatin protein HP1 via interaction with CTIP2 inhibits human immunodeficiency virus type 1 replication in microglial cells". J. Virol. 77 (9): 5415–27. doi:10.1128/JVI.77.9.5415-5427.2003. PMC 153947. PMID 12692243.
• Senawong T, Peterson VJ, Avram D, Shepherd DM, Frye RA, Minucci S, Leid M (2003). "Involvement of the histone deacetylase SIRT1 in chicken ovalbumin upstream promoter transcription factor (COUP-TF)-interacting protein 2-mediated transcriptional repression". J. Biol. Chem. 278 (44): 43041–50. doi:10.1074/jbc.M307477200. PMC 2819354. PMID 12930829.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Bezrookove V, van Zelderen-Bhola SL, Brink A, Szuhai K, Raap AK, Barge R, Beverstock GC, Rosenberg C (2004). "A novel t(6;14)(q25-q27;q32) in acute myelocytic leukemia involves the BCL11B gene". Cancer Genet. Cytogenet. 149 (1): 72–6. doi:10.1016/S0165-4608(03)00302-9. PMID 15104287.
• MacLeod RA, Nagel S, Drexler HG (2004). "BCL11B rearrangements probably target T-cell neoplasia rather than acute myelocytic leukemia". Cancer Genet. Cytogenet. 153 (1): 88–9. doi:10.1016/j.cancergencyto.2004.02.020. PMID 15325104.
• Przybylski GK, Dik WA, Wanzeck J, Grabarczyk P, Majunke S, Martin-Subero JI, Siebert R, Dölken G, Ludwig WD, Verhaaf B, van Dongen JJ, Schmidt CA, Langerak AW (2005). "Disruption of the BCL11B gene through inv(14)(q11.2q32.31) results in the expression of BCL11B-TRDC fusion transcripts and is associated with the absence of wild-type BCL11B transcripts in T-ALL". Leukemia. 19 (2): 201–8. doi:10.1038/sj.leu.2403619. PMID 15668700.
• Cismasiu VB, Adamo K, Gecewicz J, Duque J, Lin Q, Avram D (2005). "BCL11B functionally associates with the NuRD complex in T lymphocytes to repress targeted promoter". Oncogene. 24 (45): 6753–64. doi:10.1038/sj.onc.1208904. PMID 16091750.
• Marban C, Suzanne S, Dequiedt F, de Walque S, Redel L, Van Lint C, Aunis D, Rohr O (2007). "Recruitment of chromatin-modifying enzymes by CTIP2 promotes HIV-1 transcriptional silencing". EMBO J. 26 (2): 412–23. doi:10.1038/sj.emboj.7601516. PMC 1783449. PMID 17245431.
• Nagel S, Scherr M, Kel A, Hornischer K, Crawford GE, Kaufmann M, Meyer C, Drexler HG, MacLeod RA (2007). "Activation of TLX3 and NKX2-5 in t(5;14)(q35;q32) T-cell acute lymphoblastic leukemia by remote 3'-BCL11B enhancers and coregulation by PU.1 and HMGA1". Cancer Res. 67 (4): 1461–71. doi:10.1158/0008-5472.CAN-06-2615. PMID 17308084.
• Kamimura K, Mishima Y, Obata M, Endo T, Aoyagi Y, Kominami R (2007). "Lack of Bcl11b tumor suppressor results in vulnerability to DNA replication stress and damages". Oncogene. 26 (40): 5840–50. doi:10.1038/sj.onc.1210388. PMID 17369851.

External links

• BCL11B+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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