BANK1 Gene Summary [Human]
The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Details
| Type | Processed Transcript |
| Official Symbol | BANK1 |
| Official Name | B cell scaffold protein with ankyrin repeats 1 [Source:HGNC Symbol;Acc:HGNC:18233] |
| Ensembl ID | ENSG00000153064 |
| Bio databases IDs | |
| Aliases | B cell scaffold protein with ankyrin repeats 1 |
| Synonyms | A530094C12RIK, AI451642, AVIEF, BANK, B-cell scaffold protein with ankyrin repeats 1, LRRGT00104 |
| 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 BANK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase binding
- protease binding
- protein binding activity, bridging
- enzyme binding
- Dof, BCAP, and BANK (DBB) motif,
- Toll/interleukin-1 receptor domain
- protein binding
- receptor binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic lymphocytic leukemia
- metabolic syndrome X
- systemic lupus erythematosus
- schizophrenia
- Crohn disease
- tinnitus
- osteoarthritis
- inflammatory bowel disease
- Alzheimer disease
- COVID-19
role in cell
- proliferation
- phosphorylation in
- number
- function
- 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.
- Extracellular Space
- Cytoplasm
- perinuclear region
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BANK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of interleukin-6 production
- MAPK cascade
- protein kinase B signaling cascade
- response to bacterium
- negative regulation of translational initiation
- negative regulation of B cell activation
- B cell activation
- positive regulation of MAPK cascade
- positive regulation of peptidyl-tyrosine phosphorylation
- negative regulation of protein kinase B signaling cascade
- B cell receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- signaling adaptor activity
- phospholipase binding
- protease binding
- receptor binding