1. Gene
  2. RUNX1 - RUNX family transcription factor 1 Gene

RUNX1 - RUNX family transcription factor 1 Gene

Homo sapiens

Also known as AML1; CBFA2; EVI-1; AMLCR1; PEBP2aB; CBF2alpha; AML1-EVI-1; PEBP2alpha

Gene ID: 861 | Gene type: protein coding

About RUNX1

Cytogenetic location: 21q22.12 Genomic coordinates (GRCh38): 21:34,787,801-35,049,302 (from NCBI)

This gene has 18 transcripts (splice variants), 205 orthologues, 2 paralogues and is associated with 122 phenotypes. Broad expression in appendix (RPKM 7.9), bone marrow (RPKM 7.3) and 24 other tissues.

Summary

Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RUNX1 Products(3)

mRNA Protein Name
NM_001001890.3 NP_001001890.1 runt-related transcription factor 1 isoform AML1b
NM_001122607.2 NP_001116079.1 runt-related transcription factor 1 isoform AML1a
NM_001754.5 NP_001745.2 runt-related transcription factor 1 isoform AML1c
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA binding IDA
IDA: Inferred from direct assay
8413232 GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
9199349 GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
IMP: Inferred from mutant phenotype
9199349 GOA
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
9199349 GOA
enables DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
9199349 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
17377532 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
9199349 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP
IMP: Inferred from mutant phenotype
9199349 GOA
enables calcium ion binding IDA
IDA: Inferred from direct assay
12217689 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
2845103 GOA
enables protein heterodimerization activity IDA
IDA: Inferred from direct assay
8413232 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
10856244 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
21873977 GOA
enables transcription coactivator binding IPI
IPI: Inferred from physical interaction
11742995 GOA
enables transcription corepressor binding IPI
IPI: Inferred from physical interaction
9751710 GOA
Biological Process GO Annotation Evidence Reference Source
involved in hemopoiesis IDA
IDA: Inferred from direct assay
21873977 GOA
involved in myeloid cell differentiation IDA
IDA: Inferred from direct assay
11742995 GOA
involved in myeloid leukocyte differentiation IMP
IMP: Inferred from mutant phenotype
28111278 GOA
involved in negative regulation of granulocyte differentiation IMP
IMP: Inferred from mutant phenotype
9199349 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
9199349 GOA
involved in positive regulation of granulocyte differentiation IMP
IMP: Inferred from mutant phenotype
9199349 GOA
involved in positive regulation of interleukin-2 production IMP
IMP: Inferred from mutant phenotype
17377532 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9199349 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
9199349 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
7862156 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

RUNX1 Protein Structure

Runt

Runt: Runt domain (76 - 209)

RunxI

RunxI: Runx inhibition domain (386 - 480)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 480 a.a.
Protein Preferred Names Protein Names

runt-related transcription factor 1

AML1-ETO fusion

RUNX1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra RUNX1 Q01196 YAP1 Homo sapiens P46937
ITC
25283809
Intra RUNX1 Q01196 HIPK2 Homo sapiens Q9H2X6
Anti Tag CoIP
16917507
Intra RUNX1 Q01196 CBFB Homo sapiens Q13951
Y2H Fragment Pooling
35914814
Intra RUNX1 Q01196 ELF2 Homo sapiens Q15723
Pull Down
14970218
Intra RUNX1 Q01196 ELF2 Homo sapiens Q15723
Anti Tag CoIP
14970218
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Platelet Disorder, Familial, With Associated Myeloid Malignancy

FPDMM

Fpd/Aml

Familial Platelet Disorder With Associated Myeloid Malignancy

Platelet Disorder, Aspirin-Like

Fps/Aml

Familial Platelet Disorder With Predisposition To Acute Myelogenous Leukemia

Familial Platelet Disorder With Predisposition To Myeloid Malignancy

Familial Platelet Disorder With Propensity To Acute Myeloid Leukemia

Familial Thrombocytopenia With Propensity To Acute Myelogenous Leukemia

Thrombocytopenia, Familial, With Propensity To Acute Myelogenous Leukemia

Asprin-Like Platelet Disorder

Fpd/Aml Syndrome

Fps/Aml Syndrome

Familial Platelet Syndrome With Predisposition To Acute Myelogenous Leukemia

Hereditary Thrombocytopenia With Normal Platelets-Hematological Cancer Predisposition Syndrome

Runx1 Fpd/Aml

Blood Platelet Disease

Platelet Disorder

Blood Platelet Disorders

Thrombocytopathy

Platelet Dysfunction

Platelet Disorders

Qualitative Platelet Deficiency

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

Acute Myeloid Leukemia With T(8;21)(Q22;Q22) Translocation

Aml With T(8

21)(Q22

Q22) Translocation

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Aggressive Systemic Mastocytosis

Asm

Lymphadenopathic Mastocytosis With Eosinophilia

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality
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

Childhood B-Cell Acute Lymphoblastic Leukemia

B-Cell Childhood Acute Lymphoblastic Leukemia

Storage Pool Platelet Disease

Platelet Storage Pool Deficiency

Storage Pool Disease Of Platelets

Dense Body Defect

Platelet Dense Granule Deficiency

Platelet Storage Pool Defect

Platelet Storage Pool Diseases

Alpha Delta Granule Deficiency

Alpha Dense Granule Deficiency

Combined Alpha-Delta Platelet Storage Pool Deficiency

Tafro Syndrome

Thrombocytopenia-Anasarca-Fever-Renal Insufficiency-Organomegaly Syndrome

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

Chronic Myelomonocytic Leukemia

Leukemia, Myelomonocytic, Chronic

Cmml

Leukemia Myelomonocytic Chronic

Cmml - [Chronic Myelomonocytic Leukaemia]

Chronic Myelomonocytic Leukaemia Without Mention Of Remission

Chronic Monocytic Leukaemia

Chronic Monocytoid Leukaemia

Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia

Chronic Myelogenous Leukemia

CML

Chronic Granulocytic Leukemia

Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib

Chronic Myeloid Leukaemia

Chronic Granulocytic Leukaemia

Chronic Myelogenous Leukaemia

Myeloid Leukemia, Chronic

Leukemia, Chronic Myelogenous

Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic

Cml - Chronic Myelogenous Leukemia

Cgl

Chronic Myelocytic Leukemia

Leukemia, Chronic Myeloid, Atypical

ACML

Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

Myeloid Leukemia Chronic

Leukemia, Myeloid, Chronic

Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

Cml- [Chronic Myeloid Leukaemia]

Cgl - [Chronic Granulocytic Leukaemia]

Chronic Myelocytic Leukaemia

Pancytopenia
Acute Myelomonocytic Leukemia

Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16

16)(P13

Q22)

Aml M4

Ammol

Acute Myeloblastic Leukemia Type 4

Aml With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16

16)(P13

Q22)

Aml-M4

Aml With Inv(16)(P13.1q22) Or T(16

16)(P13.1

Q22)

Cbfb-Myh11

Leukemia Myelomonocytic Acute

Leukemia, Myelomonocytic, Acute

Acute Myelomonocytic Leukaemia Without Mention Of Remission

Myelomonocytic Leukaemia Nos

Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic

JMML

Leukemia, Juvenile Myelomonocytic, Somatic

Juvenile Chronic Myelomonocytic Leukemia

Juvenile Chronic Myelogenous Leukemia

Leukemia, Myelomonocytic, Juvenile

Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Childhood Acute Lymphocytic Leukemia

Childhood Acute Lymphoblastic Leukemia

Childhood All

Pediatric Acute Lymphoblastic Leukemia

Lymphoblastic Leukemia Acute Childhood

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

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

Monocytic Leukemia

Monocytic Leukaemia

Schilling'S Leukaemia

Schilling'S Leukemia

M5b Acute Differentiated Monocytic Leukemia

Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

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

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia

ALL

Acute Lymphocytic Leukemia

Leukemia, Acute Lymphocytic, Susceptibility To, 1

Acute Lymphoblastic Leukaemia

Precursor Lymphoblastic Lymphoma/Leukemia

Precursor Lymphoid Neoplasm

Leukemia, Acute Lymphoblastic, Susceptibility To

B-Cell Acute Lymphoblastic Leukemia

Leukemia, Acute Lymphocytic 1

Acute Lymphocytic Leukaemia

Acute Lymphoblastic Leukemia/Lymphoma

All1

Childhood Acute Lymphoblastic Leukemia

Leukemia Acute Lymphoblastic 1

Leukemia Acute Lymphoblastic B-Hyperdiploid

Leukemia Acute Lymphocytic

Leukemia Acute Lymphocytic 1

Leukemia B-Cell Acute Lymphoblastic

Leukemia T-Cell Acute Lymphoblastic

Leukemia, Acute Lymphoblastic, 3

ALL3

Lymphoblastic Leukemia Acute

Leukemia, Acute, Lymphoblastic

Precursor Cell Lymphoblastic Leukemia Lymphoma

Leukemia, Lymphocytic, Acute, L1

Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Myeloproliferative Neoplasm

Myeloproliferative Disorder

Chronic Myeloproliferative Disease

Myeloproliferative Neoplasms

Chronic Myeloproliferative Disorder

Cmpd

Cmpd, U

Chronic Myeloproliferative Disorders

Mpd

Mpn

Myeloproliferative Disorders

Myeloproliferative Disease

Campomelic Dysplasia

Intermediate Malignant Teratoma

Malignant Teratoma, Intermediate

Intermediate Immature Teratoma

Intestinal Pseudo-Obstruction

Chronic Intestinal Pseudoobstruction

Chronic Intestinal Pseudo-Obstruction

Cipo

Neuronal Intestinal Dysplasia

Hollow Visceral Myopathy

Familial Visceral Neuropathy

Paralytic Ileus

Intestinal Pseudoobstruction

Chronic Idiopathic Intestinal Pseudo-Obstruction

Ciip

Congenital Short Bowel Syndrome

Enteric Neuropathy

Familial Visceral Myopathy

Ipo

Pseudo-Obstruction Of Intestine

Pseudointestinal Obstruction Syndrome

Pseudoobstructive Syndrome

Congenital Idiopathic Intestinal Pseudoobstruction

Visceral Myopathy, Familial

Myelofibrosis

Primary Myelofibrosis

Agnogenic Myeloid Metaplasia

Idiopathic Myelofibrosis

Myeloid Metaplasia

Myelofibrosis With Myeloid Metaplasia

Osteomyelofibrosis

Megakaryocytic Myelosclerosis

Myelosclerosis

Chronic Idiopathic Myelofibrosis

Myelofibrosis, Idiopathic

Myelofibrosis With Myeloid Metaplasia, Somatic

Myelofibrosis, Somatic

Aleukemic Myelosis

Bone Marrow Fibrosis

MYELOF

MMM

Agnogenic Myeloid Metaplasia With Myelofibrosis

Ammm

Myelosclerosis With Myeloid Metaplasia

Myelofibrosis Nos

Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia

Precursor T-Cell Acute Lymphoblastic Leukemia

T-All

Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma

Precursor T-Cell Acute Lymphocytic Leukemia

Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Adult T-Cell Lymphoma/Leukemia

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
Bos taurus RUNX1 VGNC VGNC:49959
Rattus norvegicus RUNX1 RGD RGD:2283
Canis familiaris RUNX1 VGNC VGNC:49641
Felis catus RUNX1 VGNC VGNC:102836
Mus musculus RUNX1 MGD MGI:99852
Macaca mulatta RUNX1 VGNC VGNC:76946