RUNX1T1 - RUNX1 partner transcriptional co-repressor 1 Gene

Also Known as CDR; ETO; MTG8; AML1T1; ZMYND2; CBFA2T1; AML1-MTG8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 862

About RUNX1T1

Cytogenetic location: 8q21.3 Genomic coordinates (GRCh38): 8:91,954,967-92,103,385 (from NCBI)

This gene has 52 transcripts (splice variants), 206 orthologues, 2 paralogues and is associated with 92 phenotypes. Ubiquitous expression in endometrium (RPKM 1.9), brain (RPKM 1.3) and 22 other tissues.

Summary

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]

RUNX1T1 Products (16)

mRNA	Protein	Name
NM_001198625.2	NP_001185554.1	protein CBFA2T1 isoform A
NM_001198626.2	NP_001185555.1	protein CBFA2T1 isoform B
NM_001198627.2	NP_001185556.1	protein CBFA2T1 isoform B
NM_001198628.2	NP_001185557.1	protein CBFA2T1 isoform B
NM_001198629.2	NP_001185558.1	protein CBFA2T1 isoform B
NM_001198630.2	NP_001185559.1	protein CBFA2T1 isoform B
NM_001198631.2	NP_001185560.1	protein CBFA2T1 isoform B
NM_001198632.2	NP_001185561.1	protein CBFA2T1 isoform A
NM_001198633.2	NP_001185562.1	protein CBFA2T1 isoform D
NM_001198634.2	NP_001185563.1	protein CBFA2T1 isoform E
NM_001198679.3	NP_001185608.1	protein CBFA2T1 isoform F
NM_001395209.1	NP_001382138.1	protein CBFA2T1 isoform G
NM_004349.4	NP_004340.1	protein CBFA2T1 isoform A
NM_175634.3	NP_783552.1	protein CBFA2T1 isoform B
NM_175635.3	NP_783553.1	protein CBFA2T1 isoform C
NM_175636.2	NP_783554.1	protein CBFA2T1 isoform C

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	10688654	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10973986	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	10688654	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	23251453	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nuclear matrix	IDA IDA: Inferred from direct assay	10973986	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RUNX1T1 Protein Structure

TAFH

NHR2

zf-MYND

0
100
200
300
400
500
604 a.a.

Protein Preferred Names	Protein Names
protein CBFA2T1	RUNX1 translocation partner 1

RUNX1T1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RUNX1T1	Q06455	NCOR1	Homo sapiens	O75376	NMR	17572682
Intra	RUNX1T1	Q06455	NCOR1	Homo sapiens	O75376	Anti Bait CoIP	18952841
Intra	RUNX1T1	Q06455	NCOR1	Homo sapiens	O75376	Y2H	17572682
Intra	RUNX1T1	Q06455	NCOR1	Homo sapiens	O75376	Anti Tag CoIP	18952841
Intra	RUNX1T1	Q06455	PRDM14	Homo sapiens	Q9GZV8	Y2H Array	20211142
Cross	RUNX1T1	Q06455	Son	Mus musculus	Q9QX47	Y2H	18952841
Cross	RUNX1T1	Q06455	Son	Mus musculus	Q9QX47	Anti Tag CoIP	18952841

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Acute Myeloid Leukemia With T(8;21)(Q22;Q22) Translocation	Aml With T(8 21)(Q22 Q22) Translocation
Myeloid Leukemia	Myeloid Leukaemia Leukaemia Myelogenous Leukemia Myelogenous Myeloid Granulocytic Leukaemia Myeloid Granulocytic Leukemia Non-Lymphocytic Leukemia Leukemia, Myeloid Granulocytic Leukaemia Myelogenous Leukaemia Myeloid Leukaemia, Unspecified, Without Mention Of Remission
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Nk-Cell Enteropathy
Core Binding Factor Acute Myeloid Leukemia	Cbf Acute Myeloid Leukemia Cbf-Aml Core-Binding Factor Aml
Hematologic Cancer	Hematologic Neoplasm Hematologic Neoplasms Hematologic Malignancies Blood Cancer Hematologic Malignancy Hematological Tumors Hematopoietic And Lymphoid System Tumor Hematopoietic Cancer Hematopoietic Neoplasm Hematopoietic Tumors Malignant Hematopoietic Neoplasm Liquid Tumor Hematopoietic Neoplasms
Acute Leukemia	Stem Cell Leukaemia Stem Cell Leukemia Acute Leukemias Acute Undifferentiated Leukemia Undifferentiated Leukemia Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission Blast Cell Leukaemia Blast Leukaemia Blastic Leukaemia Undifferentiated Leukaemia
Childhood Acute Myeloid Leukemia	Childhood Acute Myeloid Leukaemia Paediatric Acute Myeloid Leukaemia Pediatric Acute Myeloid Leukemia
Childhood Leukemia
Myeloid Leukemia Associated With Down Syndrome
Myeloid Sarcoma	Granulocytic Sarcoma Chloroma Extramedullary Myeloid Tumor Sarcoma, Granulocytic Sarcoma Granulocytic Sarcoma, Myeloid Myelosarcoma Myeloid Sarcoma Disease Myeloid Sarcoma Nos Myeloid Sarcoma Without Mention Of Remission
Acute Biphenotypic Leukemia	Mixed Phenotype Acute Leukemia Acute Leukemia Of Ambiguous Lineage Acute Undifferentiated Leukemia Acute Leukemia Of Indeterminate Lineage Hybrid Acute Leukemia Mixed Lineage Acute Leukemia All With Myeloid Markers Aml With Lymphoid Markers Acute Leukemia Of Undetermined Lineage Bal Biphenotypic Acute Leukemia Undifferentiated Acute Leukemia Mpal Acute Myeloid Leukemia, Minimal Differentiation, Fab M0 Leukemia, Biphenotypic, Acute
Acute Promyelocytic Leukemia	Leukemia, Acute Promyelocytic Acute Myeloblastic Leukemia Type 3 Aml M3 APL Leukemia, Acute Promyelocytic, Somatic Aml With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Apml Acute Myeloblastic Leukemia 3 Acute Myeloid Leukemia With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Acute Myeloblastic Leukaemia Type 3 Acute Myeloid Leukaemia M3 Acute Myeloid Leukemia M3 Acute Promyelocytic Leukaemia M3 Anll Myeloid Leukemia, Acute, M3 Leukemia Promyelocytic Acute Leukemia, Promyelocytic, Acute Leukemia, Acute, Promyelocytic
Acute Megakaryocytic Leukemia	Acute Megakaryoblastic Leukemia Acute Megakaryoblastic Leukaemia Megakaryocytic Myelosis Thrombocytic Leukaemia Amkl Aml M7 Acute Myeloblastic Leukemia Type 7 Acute Myeloid Leukemia M7 Megakaryoblastic Leukemia Acute Leukemia, Megakaryoblastic, Acute Acute Myeloid Leukaemia, M7 Acute Megakaryocytic Leukaemia Acute Megakaryoblastic Leukaemia, Fab M7 Fab M7 Malignant Megakaryocytosis M7 - Acute Megakaryoblastic Leukaemia Megakaryoblastic Leukaemia Megakaryocytic Leukaemia Acute Megakaryoblastic Leukaemia, Nos Acute Megakaryoblastic Leukaemia Without Mention Of Remission
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12350	RUNX1T1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RUNX1T1	MGD	MGI:104793
Macaca mulatta	RUNX1T1	VGNC	VGNC:80259
Bos taurus	RUNX1T1	VGNC	VGNC:55756
Canis familiaris	RUNX1T1	VGNC	VGNC:80256
Rattus norvegicus	RUNX1T1	RGD	RGD:1305490
Felis catus	RUNX1T1	VGNC	VGNC:80263
Others	RUNX1T1	NCBI