InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RUNX1

Summary

InnateDB Protein

IDBP-2827.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RUNX1

Protein Name

runt-related transcription factor 1

Synonyms

AML1; AML1-EVI-1; AMLCR1; CBFA2; EVI-1; PEBP2aB;

Species

Homo sapiens

Ensembl Protein

ENSP00000300305

InnateDB Gene

IDBG-2825 (RUNX1)

Protein Structure

UniProt Annotation

Function

CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL-3 and GM-CSF promoters. The alpha subunit binds DNA and appears to have a role in the development of normal hematopoiesis. Isoform AML-1L interferes with the transactivation activity of RUNX1. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the mouse BLK promoter. Inhibits KAT6B- dependent transcriptional activation. {ECO:0000269PubMed:10207087, ECO:0000269PubMed:11965546, ECO:0000269PubMed:14970218, ECO:0000269PubMed:17431401}.

Subcellular Localization

Nucleus.

Disease Associations

Note=A chromosomal aberration involving RUNX1/AML1 is a cause of M2 type acute myeloid leukemia (AML-M2). Translocation t(8;21)(q22;q22) with RUNX1T1.Note=A chromosomal aberration involving RUNX1/AML1 is a cause of therapy-related myelodysplastic syndrome (T-MDS). Translocation t(3;21)(q26;q22) with EAP or MECOM.Note=A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelogenous leukemia (CML). Translocation t(3;21)(q26;q22) with EAP or MECOM.Note=A chromosomal aberration involving RUNX1/AML1 is found in childhood acute lymphoblastic leukemia (ALL). Translocation t(12;21)(p13;q22) with TEL. The translocation fuses the 3'-end of TEL to the alternate 5'-exon of AML-1H.Note=A chromosomal aberration involving RUNX1 is found in acute leukemia. Translocation t(11,21)(q13;q22) that forms a MACROD1-RUNX1 fusion protein.Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]: Autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia. {ECO:0000269PubMed:10508512}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=A chromosomal aberration involving RUNX1/AML1 is found in therapy-related myeloid malignancies. Translocation t(16;21)(q24;q22) that forms a RUNX1-CBFA2T3 fusion protein.Note=A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelomonocytic leukemia. Inversion inv(21)(q21;q22) with USP16.

Tissue Specificity

Expressed in all tissues examined except brain and heart. Highest levels in thymus, bone marrow and peripheral blood.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 120 experimentally validated interaction(s) in this database.
They are also associated with 42 interaction(s) predicted by orthology.

Experimentally validated
Total	120 [view]
Protein-Protein	101 [view]
Protein-DNA	19 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	42 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000975	regulatory region DNA binding
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008134	transcription factor binding
GO:0042803	protein homodimerization activity
GO:0046982	protein heterodimerization activity
GO:0070491	repressing transcription factor binding

Biological Process

GO:0001501	skeletal system development
GO:0001701	in utero embryonic development
GO:0001889	liver development
GO:0002318	myeloid progenitor cell differentiation
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007417	central nervous system development
GO:0009966	regulation of signal transduction
GO:0030097	hemopoiesis
GO:0030099	myeloid cell differentiation
GO:0030182	neuron differentiation
GO:0030853	negative regulation of granulocyte differentiation
GO:0030854	positive regulation of granulocyte differentiation
GO:0031069	hair follicle morphogenesis
GO:0035162	embryonic hemopoiesis
GO:0045766	positive regulation of angiogenesis
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048266	behavioral response to pain
GO:0048666	neuron development
GO:0048935	peripheral nervous system neuron development
GO:0060216	definitive hemopoiesis
GO:0071336	regulation of hair follicle cell proliferation
GO:0071425	hematopoietic stem cell proliferation
GO:0071560	cellular response to transforming growth factor beta stimulus
GO:2000872	positive regulation of progesterone secretion

Cellular Component

GO:0005604	basement membrane
GO:0005634	nucleus

Protein Structure and Domains

PDB ID

InterPro

IPR000040 Acute myeloid leukemia 1 protein (AML1)/Runt
IPR008967 p53-like transcription factor, DNA-binding
IPR013524 Runt domain
IPR013711 Runx, C-terminal domain
IPR016554 Runt-related transcription factor RUNX

PFAM

PF00853
PF08504

PRINTS

PR00967

PIRSF

PIRSF009374

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt