RUNX1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | RUNX1 |
| Official Name | RUNX family transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:10471] |
| Ensembl ID | ENSG00000159216 |
| Bio databases IDs | |
| Aliases | RUNX family transcription factor 1, aml1 oncogene |
| Synonyms | acute myeloid leukaemia 1, AML, AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, CBF-alpha-2, CBF-α-2, EVI-1, FPDMM, PEA2-alpha, PEA2-α, Pebp2a2, PEBP2aB, PEBP2-alpha, PEBP2-α, Pebp2 α B, Pebpa2b, Rnx1, runt related transcription factor 1, RUNX1A, RUNX family transcription factor 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RUNX1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- transcription activation domain
- transcription factor binding
- inhibitory domain
- chromatin binding
- runt domain
- negative regulation of DNA-binding domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- activation domain
- DNA binding domain
- nucleic acid binding
- Groucho binding domain
- Sin3 binding domain
- calcium ion binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- phosphorylation site
- msin3a protein-binding domain
- transcription repression domain
- Runx inhibition domain
- double-stranded DNA binding
- ETS interacting domain
- protein homodimerization
- nuclear matrix targeting site
- CAD domain
- transcription factor activity
- protein heterodimerization
Pathways
Biological processes and signaling networks where the RUNX1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- allergic rhinitis
- asthma
- psoriasis
- rheumatoid arthritis
- Crohn disease
- cancer
- leukemia
- neoplasia
- weight gain
role in cell
- cell death
- proliferation
- apoptosis
- replication in
- growth
- signaling in
- inhibition in
- number
- expression in
- phosphorylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- nuclear matrix fraction
- intracellular membrane-bounded organelle
- Cytoplasm
- nucleoplasm
- nuclear speckles
- nuclear matrix
- chromatin
- basement membrane
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RUNX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cardiac muscle tissue regeneration
- neuron differentiation
- hemopoiesis
- regulation of cardiac muscle cell proliferation
- chondrocyte differentiation
- positive regulation of CD8-positive, alpha-beta T cell differentiation
- positive regulation of transcription from RNA polymerase II promoter
- myeloid leukocyte differentiation
- peripheral nervous system neuron development
- positive regulation of angiogenesis
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- positive regulation of granulocyte differentiation
- positive regulation of collagen biosynthetic process
- regulation of cell differentiation
- negative regulation of CD4-positive, alpha-beta T cell differentiation
- positive regulation of transcription, DNA-dependent
- ossification
- hemopoietic stem cell proliferation
- regulation of plasminogen activation
- positive regulation of interleukin-2 production
Cellular Component
Where in the cell the gene product is active
- core-binding factor complex
- nucleus
- intracellular membrane-bounded organelle
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity