EBF1 Gene Summary [Human]
Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of transcription, DNA-templated. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Retained Intron |
| Official Symbol | EBF1 |
| Official Name | EBF transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:3126] |
| Ensembl ID | ENSG00000164330 |
| Bio databases IDs | |
| Aliases | EBF transcription factor 1 |
| Synonyms | B120IND2, COE1, early B cell factor 1, EBF, EBF transcription factor 1, O/E-1, OE-1, OLF1 |
| 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 EBF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- dimerization domain
- DNA binding domain
- nucleic acid binding
- Transcription factor COE1 helix-loop-helix domain
- IPT
- basic Helix Loop Helix (bHLH) domain superfamily
- nuclear localization sequence
- transcription activation domain
- protein domain specific binding
- protein binding
- Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
- sequence-specific DNA binding
- DNA binding
- protein binding domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- IPT/TIG domain
- helix loop helix domain
- zinc finger domain
- helix-loop-helix domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the EBF1 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
- cancer
- breast carcinoma
- breast cancer
- hypertension
- precursor B-cell acute lymphoblastic leukemia
- T acute lymphoblastic leukemia
- acute myeloid leukemia
- schizophrenia
- male pattern hair loss
- hypoglycemia
role in cell
- binding in
- expression in
- quantity
- migration
- phosphorylation in
- expansion
- proliferation
- apoptosis
- transcription in
- upregulation 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
- intracellular space
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EBF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity