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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]
BANK1 (B Cell Scaffold Protein With Ankyrin Repeats 1) is a Protein Coding gene. Diseases associated with BANK1 include Systemic Lupus Erythematosus and Lupus Erythematosus. An important paralog of this gene is PIK3AP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IBA,IPI | 11782428 |
GO:1990782 | protein tyrosine kinase binding | IPI | 11782428 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0009617 | response to bacterium | IEA | -- |
GO:0042113 | B cell activation | IBA,IDA | 11782428 |
GO:0043410 | positive regulation of MAPK cascade | IEA | -- |
GO:0045947 | negative regulation of translational initiation | IEA | -- |
GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | IMP | 11782428 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BANK1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BANK1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BANK1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bank1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bank1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | BANK1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | BANK1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BANK1 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | stumps 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10516487 | Uncertain Significance: Systemic lupus erythmatosus, association with. - | 101,829,919(+) | G/Ap.Arg61His | MISSENSE_VARIANT,INTRON_VARIANT | |
rs35978636 | Benign: Systemic lupus erythematosus | 101,829,857(+) | G/C | MISSENSE_VARIANT,INTRON_VARIANT | |
rs3113676 | - | p.Cys650Arg | |||
rs3733197 | - | p.Ala383Thr |
Disorder | Aliases | PubMed IDs |
---|---|---|
systemic lupus erythematosus |
|
|
lupus erythematosus |
|
|
multifocal motor neuropathy |
|
|
diffuse cutaneous systemic sclerosis |
|
|
diffuse scleroderma |
|
|