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Protein

Protein CBFA2T3

Gene

CBFA2T3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).2 PublicationsBy similarity6 Publications
Isoform 2 functions as an A-kinase-anchoring protein (PubMed:11823486).1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri556 – 592MYND-typePROSITE-ProRule annotationAdd BLAST37

GO - Molecular functioni

  • DNA-binding transcription factor activity Source: InterPro
  • metal ion binding Source: UniProtKB-KW
  • transcription corepressor activity Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionRepressor
Biological processDifferentiation, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNORiO75081

Names & Taxonomyi

Protein namesi
Recommended name:
Protein CBFA2T3
Alternative name(s):
MTG8-related protein 2
Myeloid translocation gene on chromosome 16 protein
Short name:
hMTG16
Zinc finger MYND domain-containing protein 4
Gene namesi
Name:CBFA2T3
Synonyms:MTG16, MTGR2, ZMYND4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000129993.14
HGNCiHGNC:1537 CBFA2T3
MIMi603870 gene
neXtProtiNX_O75081

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Golgi apparatus, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.3 Publications

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi494V → P or A: Loss of interaction with PRKAR2A. 1 Publication1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei51 – 52Breakpoint for translocation to form type-1 RUNX1-CBFA2T3 fusion protein2
Sitei127 – 128Breakpoint for translocation to form type-2 RUNX1-CBFA2T3 fusion protein2

Organism-specific databases

DisGeNETi863
MalaCardsiCBFA2T3
OpenTargetsiENSG00000129993
Orphaneti329469 Acute megakaryoblastic leukemia without Down syndrome
PharmGKBiPA26113

Polymorphism and mutation databases

BioMutaiCBFA2T3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003071731 – 653Protein CBFA2T3Add BLAST653

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei457PhosphoserineCombined sources1
Modified residuei459PhosphoserineCombined sources1
Modified residuei479PhosphothreonineCombined sources1
Modified residuei637PhosphoserineCombined sources1
Modified residuei641PhosphoserineCombined sources1
Modified residuei650PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO75081
MaxQBiO75081
PaxDbiO75081
PeptideAtlasiO75081
PRIDEiO75081
ProteomicsDBi49745
49746 [O75081-2]
49747 [O75081-4]
49748 [O75081-5]

PTM databases

iPTMnetiO75081
PhosphoSitePlusiO75081

Expressioni

Tissue specificityi

Widely expressed with higher expression in heart, pancreas, skeletal muscle, spleen, thymus and peripheral blood leukocytes. Expressed in hematopoietic cells (at protein level).3 Publications

Inductioni

Down-regulated by all-trans retinoic acid (ATRA).1 Publication

Gene expression databases

BgeeiENSG00000129993 Expressed in 154 organ(s), highest expression level in cerebellar hemisphere
ExpressionAtlasiO75081 baseline and differential
GenevisibleiO75081 HS

Organism-specific databases

HPAiHPA059931
HPA062423
HPA065890

Interactioni

Subunit structurei

Homooligomer. Homotetramerization is mediated by nervy homology region 2 (NRH2) (By similarity). Can interact with RUNX1T1 and CBFA2T2; heterotetramerization between members of the CBFA2T family is proposed (PubMed:12242670). Component of a TAL-1 complex composed at least of CBFA2T3, LDB1, TAL1 and TCF3 (By similarity). Interacts with ERBB4, HDAC1, HDAC2, HDAC3, HDAC6, HDAC8, NCOR1, NCOR2, and ZNF652. According to PubMed:12242670, may not interact with HDAC6. Interacts with PLXNA1, PLXNA3 and PRKAR1A. Isoform 2 interacts with PRKAR2A, PDE7A and probably PDE4A. Interacts with ZBTB4, ZBTB38 and ZBTB33. Interacts with HIF1A and EGLN1. Interacts with the AML1-MTG8/ETO fusion protein.By similarity11 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi107311, 34 interactors
DIPiDIP-48898N
IntActiO75081, 15 interactors
MINTiO75081
STRINGi9606.ENSP00000268679

Structurei

3D structure databases

ProteinModelPortaliO75081
SMRiO75081
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini171 – 266TAFHPROSITE-ProRule annotationAdd BLAST96

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 435Mediates localization to the nucleusBy similarityAdd BLAST435
Regioni1 – 430Mediates interaction with PDE7A (in isoform 2)Add BLAST430
Regioni1 – 127Required for nucleolar targeting (in isoform 1)