CBFA2T3

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]

CBFA2T3
Identifiers
AliasesCBFA2T3, ETO2, MTG16, MTGR2, ZMYND4, RUNX1T3, CBFA2/RUNX1 translocation partner 3, CBFA2/RUNX1 partner transcriptional co-repressor 3
External IDsOMIM: 603870 MGI: 1338013 HomoloGene: 74543 GeneCards: CBFA2T3
Gene location (Human)
Chr.Chromosome 16 (human)[1]
Band16q24.3Start88,874,858 bp[1]
End88,977,207 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

863

12398

Ensembl

ENSG00000129993

ENSMUSG00000006362

UniProt

O75081

O54972

RefSeq (mRNA)

NM_005187
NM_175931

NM_001109873
NM_009824
NM_177289

RefSeq (protein)

NP_005178
NP_787127

NP_001103343
NP_033954
NP_796263

Location (UCSC)Chr 16: 88.87 – 88.98 MbChr 8: 122.63 – 122.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. GRCh38: Ensembl release 89: ENSG00000129993 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000006362 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. "Entrez Gene: CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3".
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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

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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.