CBFA2T3
entrez
863
canonical
uniprot
O75081
canonical
ensembl
ENSG00000129993
resolver
ensp
ENSP00000268679
resolver
ensp
ENSP00000332122
resolver
genesymbol
CBFA2T3
resolver
genesymbol_syn
MTG16
resolver
genesymbol_syn
MTGR2
resolver
genesymbol_syn
ZMYND4
resolver
hgnc
HGNC:1537
resolver
uniprot
D3DX78
resolver
uniprot
O60615
resolver
uniprot
O60616
resolver
uniprot
O60617
resolver
uniprot
O75082
resolver
uniprot
O75107
resolver
uniprot
O75108
resolver
uniprot
Q0P5Z6
resolver
uniprot
Q6P5W6
resolver
uniprot_entry
MTG16_HUMAN
resolver
uniprot_sec
D3DX78
resolver
uniprot_sec
O60615
resolver
uniprot_sec
O60616
resolver
uniprot_sec
O60617
resolver
uniprot_sec
O75082
resolver
uniprot_sec
O75107
resolver
uniprot_sec
O75108
resolver
uniprot_sec
Q0P5Z6
resolver
uniprot_sec
Q6P5W6
resolver
amino_acid_sequence
MPASRLRDRAASSASGSTCGSMSQTHPVLESGLLASAGCSAPRGPRKGGPAPVDRKAKASAMPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTHREDGPATLPHGRFHGCLKWSMVCLLMNGSSHSPTAINGAPCTPNGFSNGPATSSTASLSTQHLPPACGARQLSKLKRFLTTLQQFGSDISPEIGERVRTLVLGLVNSTLTIEEFHSKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARLAKQTPAQYLAQHEQLLLDASASSPIDSSELLLEVNENGKRRTPDRTKENGSDRDPLHPEHLSKRPCTLNPAQRYSPSNGPPQPTPPPHYRLEDIAMAHHFRDAYRHPDPRELRERHRPLVVPGSRQEEVIDHKLTEREWAEEWKHLNNLLNCIMDMVEKTRRSLTVLRRCQEADREELNHWARRYSDAEDTKKGPAPAAARPRSSSAGPEGPQLDVPREFLPRTLTGYVPEDIWRKAEEAVNEVKRQAMSELQKAVSDAERKAHELITTERAKMERALAEAKRQASEDALTVINQQEDSSESCWNCGRKASETCSGCNAARYCGSFCQHRDWEKHHHVCGQSLQGPTAVVADPVPGPPEAAHSLGPSLPVGAASPSEAGSAGPSRPGSPSPPGPLDTVPR
uniprot
proteins
disease_involvement
DISEASE: Note=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. {ECO:0000269|PubMed:10995019, ECO:0000269|PubMed:11224496, ECO:0000269|PubMed:9596646}.
uniprot
proteins
function
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, PubMed:16966434, PubMed:18456661). 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). {ECO:0000250|UniProtKB:O54972, ECO:0000269|PubMed:12183414, ECO:0000269|PubMed:15231665, ECO:0000269|PubMed:16966434, ECO:0000269|PubMed:18456661, ECO:0000269|PubMed:23251453, ECO:0000269|PubMed:23840896, ECO:0000269|PubMed:25974097, ECO:0000303|PubMed:12559562, ECO:0000303|PubMed:15203199}.; FUNCTION: Isoform 2 functions as an A-kinase-anchoring protein (PubMed:11823486). {ECO:0000269|PubMed:11823486}.
uniprot
proteins
mass_dalton
71192
uniprot
proteins
mutagenesis
MUTAGEN 494; /note="V->P,A: Loss of interaction with PRKAR2A."; /evidence="ECO:0000269|PubMed:11823486
uniprot
proteins
protein_family
CBFA2T family
uniprot
proteins
pubmed
10995019
uniprot
proteins
pubmed
11224496
uniprot
proteins
pubmed
11533236
uniprot
proteins
pubmed
11823486
uniprot
proteins
pubmed
12183414
uniprot
proteins
pubmed
12242670
uniprot
proteins
pubmed
12559562
uniprot
proteins
pubmed
15203199
uniprot
proteins
pubmed
15231665
uniprot
proteins
pubmed
15470020
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15676213
uniprot
proteins
pubmed
16616331
uniprot
proteins
pubmed
16815842
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
16966434
uniprot
proteins
pubmed
18456661
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20138877
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23251453
uniprot
proteins
pubmed
23840896
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25974097
uniprot
proteins
pubmed
9596646
uniprot
proteins
pubmed
9790752
uniprot
proteins
sequence_length
653
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Nucleus {ECO:0000269|PubMed:18456661}. Nucleus, nucleolus {ECO:0000269|PubMed:12242670}. Note=The RUNX1-CBFA2T3 fusion protein localizes to the nucleoplasm. {ECO:0000269|PubMed:12242670}.; SUBCELLULAR LOCATION: [Isoform 2]: Nucleus, nucleoplasm {ECO:0000269|PubMed:11823486}. Golgi apparatus membrane {ECO:0000269|PubMed:11823486}.
uniprot
proteins