AIF1 Gene Summary [Human]
This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]
Details
| Type | Retained Intron |
| Official Symbol | AIF1 |
| Official Name | allograft inflammatory factor 1 [Source:HGNC Symbol;Acc:HGNC:352] |
| Ensembl ID | ENSG00000204472 |
| Bio databases IDs | |
| Aliases | allograft inflammatory factor 1, interferon gamma responsive transcript, ionized calcium-binding adapter molecule 1 |
| Synonyms | allograft inflammatory factor 1, BART1, D17H6S50E, G1, IBA1, mrf-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 AIF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- actin filament binding
- calcium ion binding
- EFh
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- epithelial cancer
- cancer
- cervical cancer
- nonobstructive azoospermia
- testicular germ cell tumor
- germ cell neoplasia
- diabetic nephropathy
- hepatocellular carcinoma
- liver cancer
role in cell
- proliferation
- expression in
- phosphorylation in
- growth
- invasion by
- migration
- apoptosis
- morphology
- cell death
- assembly
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
- ruffle
- Cytoplasm
- perinuclear region
- actin filaments
- cytosol
- membrane ruffles
- glial cell projections
- cellular protrusions
- perikaryon
- lamellipodia
- phagocytic cups
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AIF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- Rac protein signal transduction
- positive regulation of cell proliferation
- positive regulation of fibroblast growth factor production
- positive regulation of smooth muscle cell proliferation
- actin crosslink formation
- inflammatory response
- phagocytosis, engulfment
- positive regulation of smooth muscle cell chemotaxis
- negative regulation of smooth muscle cell chemotaxis
- negative regulation of smooth muscle cell proliferation
- positive regulation of mononuclear cell migration
- parallel actin filament bundle assembly
- positive regulation of chemokine production
- positive regulation of G1/S transition of mitotic cell cycle
- positive regulation of monocyte chemotaxis
- actin filament polymerization
- positive regulation of T cell proliferation
- microglial cell activation
- positive regulation of T cell migration
- ruffle assembly
- regulation of gene expression
- cellular response to oxidative stress
- cellular response to interferon-gamma
- positive regulation of interleukin-6 production
- positive regulation of chemotaxis
- actin filament bundle assembly
- positive regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- nucleus
- perinuclear region of cytoplasm
- cytoplasm
- ruffle
- ruffle membrane
- cytosol
- actin filament
- phagocytic cup
- lamellipodium
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- protein binding
- calcium ion binding