CBFA2T3

Last updated
CBFA2T3
Protein CBFA2T3 PDB 2h7b.png
Identifiers
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 Mb Chr 8: 122.63 – 122.7 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Contents

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:

Related Research Articles

Acute myeloblastic leukemia with maturation Medical condition

Acute myeloblastic leukemia with maturation (M2) is a subtype of acute myeloid leukemia (AML).

ETV6

ETV6 protein is a transcription factor that in humans is encoded by the ETV6 gene. The ETV6 protein regulates the development and growth of diverse cell types, particularly those of hematological tissues. However, its gene, ETV6 frequently suffers various mutations that lead to an array of potentially lethal cancers, i.e., ETV6 is a clinically significant proto-oncogene in that it can fuse with other genes to drive the development and/or progression of certain cancers. However, ETV6 is also an anti-oncogene or tumor suppressor gene in that mutations in it that encode for a truncated and therefore inactive protein are also associated with certain types of cancers.

Nuclear receptor co-repressor 1

The nuclear receptor co-repressor 1 also known as thyroid-hormone- and retinoic-acid-receptor-associated co-repressor 1 (TRAC-1) is a protein that in humans is encoded by the NCOR1 gene.

RUNX1

Runt-related transcription factor 1 (RUNX1) also known as acute myeloid leukemia 1 protein (AML1) or core-binding factor subunit alpha-2 (CBFA2) is a protein that in humans is encoded by the RUNX1 gene.

Zinc finger and BTB domain-containing protein 16

Zinc finger and BTB domain-containing protein 16 is a protein that in humans is encoded by the ZBTB16 gene.

NUP98

Nuclear pore complex protein Nup98-Nup96 is a protein that in humans is encoded by the NUP98 gene.

RUNX3 Protein-coding gene in humans

Runt-related transcription factor 3 is a protein that in humans is encoded by the RUNX3 gene.

HOXA9

Homeobox protein Hox-A9 is a protein that in humans is encoded by the HOXA9 gene.

CBFB

Core-binding factor subunit beta is a protein that in humans is encoded by the CBFB gene.

CEBPA

CCAAT/enhancer-binding protein alpha is a protein encoded by the CEBPA gene in humans. CCAAT/enhancer-binding protein alpha is a transcription factor involved in the differentiation of certain blood cells. For details on the CCAAT structural motif in gene enhancers and on CCAAT/Enhancer Binding Proteins see the specific page.

RUNX1T1

Protein CBFA2T1 is a protein that in humans is encoded by the RUNX1T1 gene.

<i>ERG</i> (gene)

ERG is an oncogene. ERG is a member of the ETS family of transcription factors. The ERG gene encodes for a protein, also called ERG, that functions as a transcriptional regulator. Genes in the ETS family regulate embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis.

HOXA5

Homeobox protein Hox-A5 is a protein that in humans is encoded by the HOXA5 gene.

MECOM

MDS1 and EVI1 complex locus protein EVI1 (MECOM) also known as ecotropic virus integration site 1 protein homolog (EVI-1) or positive regulatory domain zinc finger protein 3 (PRDM3) is a protein that in humans is encoded by the MECOM gene. EVI1 was first identified as a common retroviral integration site in AKXD murine myeloid tumors. It has since been identified in a plethora of other organisms, and seems to play a relatively conserved developmental role in embryogenesis. EVI1 is a nuclear transcription factor involved in many signaling pathways for both coexpression and coactivation of cell cycle genes.

BCL11A

B-cell lymphoma/leukemia 11A is a protein that in humans is encoded by the BCL11A gene.

CBFA2T2

Protein CBFA2T2 is a protein that in humans is encoded by the CBFA2T2 gene.

FBXO31

F-box only protein 31 is a protein that in humans is encoded by the FBXO31 gene.

The Runt domain is an evolutionary conserved protein domain.

MYND zinc finger

In molecular biology the MYND-type zinc finger domain is a conserved protein domain. The MYND domain is present in a large group of proteins that includes RP-8 (PDCD2), Nervy, and predicted proteins from Drosophila, mammals, Caenorhabditis elegans, yeast, and plants. The MYND domain consists of a cluster of cysteine and histidine residues, arranged with an invariant spacing to form a potential zinc-binding motif. Mutating conserved cysteine residues in the DEAF-1 MYND domain does not abolish DNA binding, which suggests that the MYND domain might be involved in protein-protein interactions. Indeed, the MYND domain of ETO/MTG8 interacts directly with the N-CoR and SMRT co-repressors. Aberrant recruitment of co-repressor complexes and inappropriate transcriptional repression is believed to be a general mechanism of leukemogenesis caused by the t(8;21) translocations that fuse ETO with the acute myelogenous leukemia 1 (AML1) protein. ETO has been shown to be a co-repressor recruited by the promyelocytic leukemia zinc finger (PLZF) protein. A divergent MYND domain present in the adenovirus E1A binding protein BS69 was also shown to interact with N-CoR and mediate transcriptional repression. The current evidence suggests that the MYND motif in mammalian proteins constitutes a protein-protein interaction domain that functions as a co-repressor-recruiting interface.

Tet methylcytosine dioxygenase 1

Ten-eleven translocation methylcytosine dioxygenase 1 (TET1) is a member of the TET family of enzymes, in humans it is encoded by the TET1 gene. Its function, regulation, and utilizable pathways remain a matter of current research while it seems to be involved in DNA demethylation and therefore gene regulation.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000129993 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "Entrez Gene: CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3".
  7. 1 2 3 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. 1 2 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. 1 2 3 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.