RUNX1T1 - RUNX1 partner transcriptional co-repressor 1 Gene

Homo sapiens

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

Gene ID: 862 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	23251453	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (1)

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

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