GFI1B Gene Summary [Human]
This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Details
| Type | Processed Transcript |
| Official Symbol | GFI1B |
| Official Name | growth factor independent 1B transcriptional repressor [Source:HGNC Symbol;Acc:HGNC:4238] |
| Ensembl ID | ENSG00000165702 |
| Bio databases IDs | |
| Aliases | growth factor independent 1B transcriptional repressor |
| Synonyms | BDPLT17, growth factor independent 1B, growth factor independent 1B transcriptional repressor, ZNF163B |
| 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 GFI1B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Zinc finger, C2H2 type
- transcription regulator
- transcription repression domain
- DNA binding domain
- double-stranded DNA binding
- Zinc-finger double domain
- transcription factor binding
- protein binding
- zinc finger domain
- sequence-specific DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- edema
- pemphigus vulgaris
- platelet-type bleeding disorder type 17
- bipolar disorder
- prostate cancer
- psoriasis
- prostatic carcinoma
- hereditary disorder
- bleeding
role in cell
- expression in
- growth
- apoptosis
- phosphorylation in
- transcription in
- proliferation
- binding in
- maturation
- outgrowth
- activation
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
- Plasma Membrane
- nucleoplasm
- nuclear matrix
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GFI1B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of G1/S transition of mitotic cell cycle
- positive regulation of transcription from RNA polymerase II promoter
- chromatin organization
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- nuclear matrix
- plasma membrane
- nucleoplasm
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
- 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