Tbio RUNX1T1 Protein CBFA2T1

Protein Classes

PANTHER Classes

Protein / Transcription Factor / Transcription Cofactor / Protein Cbfa2t1

DTO Classes

Protein / Transcription Factor / Transcription Cofactor / Protein Cbfa2t1

Protein Summary

Description

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). Can repress transactivation mediated by TCF12 (PubMed:16803958). Acts as a negative regulator of adipogenesis (By similarity). The AML1-MTG8/ETO fusion protein frequently found in leukemic cells is involved in leukemogenesis and contributes to hematopoietic stem/progenitor cell self-renewal (PubMed:23812588). 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(8;21)(q22;q22) translocation is one of the most frequent 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. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

Uniprot Accession IDs

• Q06455
• B7Z4P4
• E7EPN4
• O14784
• Q06456
• Q14873
• Q16239
• Q16346
• Q16347
• Q6IBL1
• Q6NXH1
• Q7Z4J5
• Q92479
• Q9BRZ0

Gene Name

• RUNX1T1

Ensembl ID

• ENST00000265814
• ENSP00000265814
• ENSG00000079102
• ENST00000360348
• ENSP00000353504
• ENST00000396218
• ENSP00000379520
• ENST00000422361
• ENSP00000390137
• ENST00000518844
• ENSP00000430728
• ENST00000520724
• ENSP00000428742
• ENST00000523629
• ENSP00000428543
• ENST00000613302
• ENSP00000481799
• ENST00000613886
• ENSP00000478331
• ENST00000614812
• ENSP00000481315
• ENST00000617740
• ENSP00000481112

Symbol

• AML1T1
• CBFA2T1
• CDR
• ETO
• MTG8
• ZMYND2
• CDR
• ETO
• MTG8
• AML1T1
• ZMYND2
• CBFA2T1
• AML1-MTG8

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
PubMedID	0.91
transcription factor	0.84
biological term	0.83
kinase perturbation	0.76
disease perturbation	0.74

Related Tools

Target Illumination GWAS Analytics (TIGA)

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 312.54   (req: < 5)

Gene RIFs: 104   (req: <= 3)

Antibodies: 256   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 312.54   (req: >= 5)

Gene RIFs: 104   (req: > 3)

Antibodies: 256   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

GWAS Traits (6)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 6

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
smoking status measurement	EFO_0006527	2	2	2		93.7
alcohol consumption measurement	EFO_0007878	3	2	3		85.9
alcohol use disorder measurement	EFO_0009458	1	1	1		45.5
risk-taking behaviour	EFO_0008579	1	1	1		19.7
intelligence	EFO_0004337	1	1	1		17.1

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 6

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
smoking status measurement	EFO_0006527	2		93.7
alcohol consumption measurement	EFO_0007878	3		85.9
alcohol use disorder measurement	EFO_0009458	1		45.5
risk-taking behaviour	EFO_0008579	1		19.7
intelligence	EFO_0004337	1		17.1

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Orthologs (12)

1 – 5 of 12

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	RUNX1 translocation partner 1	VGNC:14581	472816
Macaque	RUNX1 translocation partner 1		696934
Mouse	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	MGI:104793	12395
Rat	RUNX1 translocation partner 1	RGD:1305490	362489
Dog	RUNX1 translocation partner 1		487044

Species	Name	OMA	EggNOG	Inparanoid
Chimp	RUNX1 translocation partner 1
Macaque	RUNX1 translocation partner 1
Mouse	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
Rat	RUNX1 translocation partner 1
Dog	RUNX1 translocation partner 1

Protein Structure (9 Structures, 1 AlphaFold Model)

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q06455-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 9

PDB Structure Id	Ligand	Method	Resolution (Å)	Residues	Fraction of Total Protein	Pub Year	Title

PDB Structure Id	Fraction of Total Protein	Resolution	Pub Year

Pathways (143)

KEGG (3)

WikiPathways (140)

Find Similar Targets

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5

1 – 3 of 3

Data Source	Name	Explore in Pharos	Explore in Source
KEGG	Acute myeloid leukemia	66 targets	path:hsa05221
KEGG	Transcriptional misregulation in cancer	172 targets	path:hsa05202
KEGG	Pathways in cancer	532 targets	path:hsa05200

Name	Explore in Pharos	Explore in Source
Acute myeloid leukemia	66 targets	path:hsa05221
Transcriptional misregulation in cancer	172 targets	path:hsa05202
Pathways in cancer	532 targets	path:hsa05200

Gene Ontology Terms (10)

Functions (4)

Components (3)

Processes (3)

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Items per page:

10

1 – 4 of 4

GO Term	Evidence	Assigned by
transcription corepressor activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
DNA-binding transcription factor activity	Traceable Author Statement (TAS)	ProtInc
DNA binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW
metal ion binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Protein-Protein Interactions (106)

Explore Interacting Targets

1 – 10 of 106

• See Interactions on String-DB

PRDM14

Tbio

Family: TF; Epigenetic

Novelty: 0.01776592

p_int: 0.99999998

p_ni: 1e-8

p_wrong: 1e-8

Score: 0.428

Data Source: BioPlex,STRINGDB

TCF4

Tbio

Family: TF

Novelty: 0.0019718

p_int: 0.999999976

p_ni: 8e-9

p_wrong: 1.6e-8

Score: 0.854

Data Source: BioPlex,STRINGDB

SYCE3

Tdark

Novelty: 0.22361224

p_int: 0.99999949

p_ni: 5.09e-7

p_wrong: 1e-9

Data Source: BioPlex

PSMC5

Tbio

Family: Enzyme

Novelty: 0.01634039

p_int: 0.999988223

p_ni: 0.000011775

p_wrong: 2e-9

Score: 0.156

Data Source: BioPlex,STRINGDB

BSPRY

Tdark

Novelty: 0.38200913

p_int: 0.957015543

p_ni: 0.000765569

p_wrong: 0.042218888

Score: 0.19

Data Source: BioPlex,STRINGDB

TCF12

Tbio

Family: TF

Novelty: 0.00381424

Score: 0.98

Data Source: STRINGDB

PRKAR2A

Tbio

Family: Enzyme

Novelty: 0.06183318

Score: 0.964

Data Source: STRINGDB

RUNX1

Tbio

Family: TF

Novelty: 0.0085181

Score: 0.945

Data Source: STRINGDB

CEBPA

Tbio

Family: TF

Novelty: 0.00056459

Score: 0.92

Data Source: STRINGDB

SPI1

Tbio

Family: TF

Novelty: 0.00064309

Score: 0.878

Data Source: STRINGDB

Publication Statistics

PubMed Score  312.54

PubMed score by year

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PubTator Score  570.25

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

Show Full Sequence

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UniProt Keyword Find Similar Targets

3D-structure
Alternative splicing
Chromosomal rearrangement
Complete proteome
DNA-binding
Metal-binding
Nucleus
Phosphoprotein
Polymorphism
Proto-oncogene

GWAS Trait Find Similar Targets

alcohol consumption measurement
alcohol use disorder measurement
intelligence
mathematical ability
risk-taking behaviour
smoking status measurement

MGI Phenotype Find Similar Targets

behavior/neurological phenotype
cardiovascular system phenotype
digestive/alimentary phenotype
growth/size/body region phenotype
integument phenotype
mortality/aging
reproductive system phenotype