CBFA2T3

This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants.

Full Name

CBFA2/RUNX1 TRANSLOCATION PARTNER 3

Function

Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199).
Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453).
Reduces the protein levels and stability of the transcriptinal regulator HIF1A; interacts with EGLN1 and promotes the HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation pathway (PubMed:25974097).
Contributes to inhibition of glycolysis and stimulation of mitochondrial respiration by down-regulating the expression of glycolytic genes including PFKFB3, PFKFB4, PDK1, PFKP, LDHA and HK1 which are direct targets of HIF1A (PubMed:23840896, PubMed:25974097).
Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity).
Plays a role in granulocyte differentiation (PubMed:15231665).
Isoform 2 functions as an A-kinase-anchoring protein (PubMed:11823486).

Biological Process

Granulocyte differentiation Source: MGI
Negative regulation of cell population proliferation Source: UniProtKB
Negative regulation of glycolytic process Source: UniProtKB
Negative regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of proteasomal ubiquitin-dependent protein catabolic process Source: UniProtKB
Regulation of aerobic respiration Source: UniProtKB
Response to hypoxia Source: UniProtKB
Transcription, DNA-templated Source: InterPro

Cellular Location

Isoform 1: Nucleolus. The RUNX1-CBFA2T3 fusion protein localizes to the nucleoplasm.
Isoform 2: Golgi apparatus membrane; Nucleoplasm

Involvement in disease

A chromosomal aberration involving CBFA2T3 is found in therapy-related myeloid malignancies. Translocation t(16;21)(q24;q22) that forms a RUNX1-CBFA2T3 fusion protein.