BANK1 Gene - B-Cell Scaffold Protein with Ankyrin Repeats
BANK1: A key regulator of B-cell receptor signaling and susceptibility gene for autoimmune diseases
Gene Information Card
| Symbol | BANK1 |
|---|---|
| Full Name | B-cell scaffold protein with ankyrin repeats 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q24 |
| NCBI Gene ID | 55024 ncbi.nlm.nih.gov/gene/55024 |
| Ensembl ID | ENSG00000153064 |
| UniProt ID | Q8NDB2 |
| OMIM ID | 610292 |
| HGNC ID | 18233 |
| Aliases | FLJ20706, MGC131895, MGC138401 |
Description
BANK1 (B-cell scaffold protein with ankyrin repeats 1) encodes a B-cell-specific scaffold protein that functions as a key adaptor in B-cell receptor (BCR) signaling. It contains an N-terminal ankyrin repeat domain and a coiled-coil region, mediating interactions with IP3 receptors and other signaling molecules. BANK1 modulates calcium mobilization and B-cell activation, and genetic variants in BANK1 are associated with susceptibility to systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic Lupus Erythematosus (SLE) | BANK1 variants (e.g., rs10516487, rs17266594) alter BCR signaling and calcium flux, leading to hyperactive B cells and autoantibody production | Genome-wide association studies (GWAS) and meta-analyses; PMID: 18204098, 19838193 |
| Rheumatoid Arthritis (RA) | Same risk variants as SLE; BANK1 polymorphisms contribute to B-cell dysregulation and synovial inflammation | GWAS; PMID: 19838193, 20453841 |
| Primary Sjögren's Syndrome | BANK1 risk alleles may predispose to B-cell hyperactivity and autoantibody formation | Candidate gene studies; PMID: 20592024 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymphoid tissues (spleen, lymph node, tonsil) | 12.5 | High |
| Whole blood | 8.2 | Medium |
| Bone marrow | 6.1 | Medium |
| Lung | 1.3 | Low |
| Small intestine | 0.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| B-lymphocyte (GM12878) | 15.3 | High expression |
| Burkitt lymphoma (Raji) | 14.7 | High expression |
| Multiple myeloma (U266) | 11.2 | Medium expression |
| T-lymphocyte (Jurkat) | 0.5 | Very low/absent |
| Monocyte (THP-1) | 0.3 | Very low/absent |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs10516487 (c.173G>A, p.Arg61His) | SNV (missense) | 0.30 (European) | Alters IP3 receptor binding, increases BCR-induced calcium flux |
| rs17266594 (intronic) | SNV (intronic) | 0.28 (European) | Associated with altered splicing and BANK1 expression levels |
| rs3733197 (c.61A>G, p.Ile21Val) | SNV (missense) | 0.25 (European) | May affect protein stability or interaction |
| rs10516488 (c.245C>T, p.Thr82Met) | SNV (missense) | 0.02 (European) | Rare variant; potential functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in BANK1; homozygous knockout in mice leads to altered B-cell responses but not complete loss.
Gain of Function (GOF)
Risk variants (e.g., rs10516487) are considered gain-of-function, enhancing BCR signaling and calcium mobilization.
Dominant Negative (DN)
Not described for BANK1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• B cell receptor signaling pathway (Reactome: R-HSA-983705)
• IP3 receptor binding and calcium signaling (Reactome: R-HSA-169911)
• Fc epsilon receptor (FCERI) signaling (Reactome: R-HSA-2454202)
Protein Summary
BANK1 is a 785-amino-acid scaffold protein predominantly expressed in B lymphocytes. It contains an N-terminal ankyrin repeat domain that binds to inositol 1,4,5-trisphosphate (IP3) receptors, and a coiled-coil region mediating homodimerization. BANK1 acts as a negative regulator of BCR-induced calcium mobilization by recruiting IP3 receptors to the BCR complex. Genetic variants in BANK1 are associated with increased risk of systemic lupus erythematosus and rheumatoid arthritis, likely through altered calcium signaling and B-cell hyperactivation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BANK1 Knockout HEK293 Cell Line | EDJ-KQ12512 | Human | 55024 | Details Get a Quote |
| BANK1 Knockout A-549 Cell Line | EDJ-KQ41496 | Human | 55024 | Details Get a Quote |
| BANK1 Knockout HCT 116 Cell Line | EDJ-KQ41497 | Human | 55024 | Details Get a Quote |
| BANK1 Knockout HeLa Cell Line | EDJ-KQ41498 | Human | 55024 | Details Get a Quote |
