1. Gene
  2. RUNX1T1 - RUNX1 partner transcriptional co-repressor 1 Gene

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

RUNX1T1 Protein Structure

TAFH

TAFH: NHR1 homology to TAF (121 - 214)

NHR2

NHR2: NHR2 domain like (337 - 403)

zf-MYND

zf-MYND: MYND finger (515 - 551)

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  • 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

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