RUNX1 - RUNX family transcription factor 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 861

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	References	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	References	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	References	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

RunxI

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	References
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

RUNX1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84458	RUNX1 Antibody (YA4155)	WB, ICC/IF, ELISA	Human
HY-P84458A	RUNX1 Antibody (YA4155)(PBS only)	WB, ICC/IF, ELISA	Human
HY-P85360	RUNX1 Antibody (YA5052)	WB, ICC/IF, ELISA	Human
HY-P86201	RUNX1 Antibody (YA5893)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-108470	Ro5-3335	Inhibitor	99.52%	Unkown

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
Others	RUNX1	NCBI