CBFA2T3
Protein-coding gene in the species Homo sapiens
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| Aliases | CBFA2T3, ETO2, MTG16, MTGR2, ZMYND4, RUNX1T3, CBFA2/RUNX1 translocation partner 3, CBFA2/RUNX1 partner transcriptional co-repressor 3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 603870 MGI: 1338013 HomoloGene: 74543 GeneCards: CBFA2T3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Protein CBFA2T3 (core-binding factor, runt domain, alpha subunit 2; translocated to, 3) is a protein that in humans is encoded by the CBFA2T3 gene.[5][6]
Function
The t(16;21)(q24;q22) translocation is a rare but recurrent chromosomal abnormality associated with therapy-related myeloid malignancies. The translocation produces a chimeric gene made up of the 5'-region of the AML1 gene fused to the 3'-region of this gene. In addition, this gene is a putative breast tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene, and a brefeldin A-sensitive association of RII-alpha protein with one of the isoforms has been demonstrated in the Golgi apparatus.[6]
Interactions
CBFA2T3 has been shown to interact with:
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000129993 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006362 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Calabi F, Cilli V (Dec 1998). "CBFA2T1 (core-binding factor, runt domain, alpha subunit 2; translocated to, 3), a gene rearranged in human leukemia, is a member of a multigene family". Genomics. 52 (3): 332–41. doi:10.1006/geno.1998.5429. PMID 9790752.
- ^ a b "Entrez Gene: CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3".
- ^ a b c Hoogeveen AT, Rossetti S, Stoyanova V, Schonkeren J, Fenaroli A, Schiaffonati L, van Unen L, Sacchi N (Sep 2002). "The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t (16; 21)-positive myeloid malignancies". Oncogene. 21 (43): 6703–12. doi:10.1038/sj.onc.1205882. PMID 12242670.
- ^ a b Amann JM, Nip J, Strom DK, Lutterbach B, Harada H, Lenny N, Downing JR, Meyers S, Hiebert SW (Oct 2001). "ETO, a target of t(8;21) in acute leukemia, makes distinct contacts with multiple histone deacetylases and binds mSin3A through its oligomerization domain". Mol. Cell. Biol. 21 (19): 6470–83. doi:10.1128/mcb.21.19.6470-6483.2001. PMC 99794. PMID 11533236.
- ^ a b c Goardon N, Lambert JA, Rodriguez P, Nissaire P, Herblot S, Thibault P, Dumenil D, Strouboulis J, Romeo PH, Hoang T (Jan 2006). "ETO2 coordinates cellular proliferation and differentiation during erythropoiesis". EMBO J. 25 (2): 357–66. doi:10.1038/sj.emboj.7600934. PMC 1383517. PMID 16407974.
- ^ Schillace RV, Andrews SF, Liberty GA, Davey MP, Carr DW (Feb 2002). "Identification and characterization of myeloid translocation gene 16b as a novel a kinase anchoring protein in T lymphocytes". J. Immunol. 168 (4): 1590–9. doi:10.4049/jimmunol.168.4.1590. PMID 11823486.
- ^ Lindberg SR, Olsson A, Persson AM, Olsson I (Dec 2003). "Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins". Eur. J. Haematol. 71 (6): 439–47. doi:10.1046/j.0902-4441.2003.00166.x. PMID 14703694. S2CID 23106882.
Further reading
- Kitabayashi I, Ida K, Morohoshi F, Yokoyama A, Mitsuhashi N, Shimizu K, Nomura N, Hayashi Y, Ohki M (1998). "The AML1-MTG8 leukemic fusion protein forms a complex with a novel member of the MTG8(ETO/CDR) family, MTGR1". Mol. Cell. Biol. 18 (2): 846–58. doi:10.1128/MCB.18.2.846. PMC 108796. PMID 9447981.
- Gamou T, Kitamura E, Hosoda F, Shimizu K, Shinohara K, Hayashi Y, Nagase T, Yokoyama Y, Ohki M (1998). "The partner gene of AML1 in t(16;21) myeloid malignancies is a novel member of the MTG8(ETO) family". Blood. 91 (11): 4028–37. doi:10.1182/blood.V91.11.4028. PMID 9596646.
- Schillace RV, Andrews SF, Liberty GA, Davey MP, Carr DW (2002). "Identification and characterization of myeloid translocation gene 16b as a novel a kinase anchoring protein in T lymphocytes". J. Immunol. 168 (4): 1590–9. doi:10.4049/jimmunol.168.4.1590. PMID 11823486.
- Kondoh K, Nakata Y, Furuta T, Hosoda F, Gamou T, Kurosawa Y, Kinoshita A, Ohki M, Tomita Y, Mori T (2003). "A pediatric case of secondary leukemia associated with t(16;21)(q24;q22) exhibiting the chimeric AML1-MTG16 gene". Leuk. Lymphoma. 43 (2): 415–20. doi:10.1080/10428190290006242. PMID 11999578. S2CID 23133496.
- Kochetkova M, McKenzie OL, Bais AJ, Martin JM, Secker GA, Seshadri R, Powell JA, Hinze SJ, Gardner AE, Spendlove HE, O'Callaghan NJ, Cleton-Jansen AM, Cornelisse C, Whitmore SA, Crawford J, Kremmidiotis G, Sutherland GR, Callen DF (2002). "CBFA2T3 (MTG16) is a putative breast tumor suppressor gene from the breast cancer loss of heterozygosity region at 16q24.3". Cancer Res. 62 (16): 4599–604. PMID 12183414.
- Powell JA, Gardner AE, Bais AJ, Hinze SJ, Baker E, Whitmore S, Crawford J, Kochetkova M, Spendlove HE, Doggett NA, Sutherland GR, Callen DF, Kremmidiotis G (2003). "Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes". Genomics. 80 (3): 303–10. doi:10.1006/geno.2002.6828. PMID 12213200.
- Hoogeveen AT, Rossetti S, Stoyanova V, Schonkeren J, Fenaroli A, Schiaffonati L, van Unen L, Sacchi N (2002). "The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t (16; 21)-positive myeloid malignancies". Oncogene. 21 (43): 6703–12. doi:10.1038/sj.onc.1205882. PMID 12242670.
- Lindberg SR, Olsson A, Persson AM, Olsson I (2004). "Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins". Eur. J. Haematol. 71 (6): 439–47. doi:10.1046/j.0902-4441.2003.00166.x. PMID 14703694. S2CID 23106882.
- Ibañez V, Sharma A, Buonamici S, Verma A, Kalakonda S, Wang J, Kadkol S, Saunthararajah Y (2004). "AML1-ETO decreases ETO-2 (MTG16) interactions with nuclear receptor corepressor, an effect that impairs granulocyte differentiation". Cancer Res. 64 (13): 4547–54. doi:10.1158/0008-5472.CAN-03-3689. PMID 15231665.
- Kumar R, Manning J, Spendlove HE, Kremmidiotis G, McKirdy R, Lee J, Millband DN, Cheney KM, Stampfer MR, Dwivedi PP, Morris HA, Callen DF (2006). "ZNF652, a novel zinc finger protein, interacts with the putative breast tumor suppressor CBFA2T3 to repress transcription". Mol. Cancer Res. 4 (9): 655–65. doi:10.1158/1541-7786.MCR-05-0249. PMID 16966434.
External links
- CBFA2T3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Human CBFA2T3 genome location and CBFA2T3 gene details page in the UCSC Genome Browser.
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PDB gallery
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2h7b: Solution structure of the eTAFH domain from the human leukemia-associated fusion protein AML1-ETO
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