B cell scaffold protein with ankyrin repeats 1

BANK1
Identifiers
Aliases	BANK1 , BANK, B-cell scaffold protein with ankyrin repeats 1, B cell scaffold protein with ankyrin repeats 1
External IDs	OMIM: 610292; MGI: 2442120; HomoloGene: 9926; GeneCards: BANK1; OMA:BANK1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) [1] Band 4q24 Start 101,411,286 bp [1] End 102,074,812 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3 G3|3 63.04 cM Start 135,759,124 bp [2] End 136,031,827 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lymph node spleen appendix epithelium of nasopharynx superficial temporal artery testicle buccal mucosa cell granulocyte blood tonsil Top expressed in mesenteric lymph nodes spleen lumbar spinal ganglion blood subcutaneous adipose tissue zygote secondary oocyte granulocyte Paneth cell submandibular gland More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 55024 242248 Ensembl ENSG00000153064 ENSMUSG00000037922 UniProt Q8NDB2 Q80VH0 RefSeq (mRNA) NM_017935 NM_001083907 NM_001127507 NM_001033350 NM_001310749 RefSeq (protein) NP_001077376 NP_001120979 NP_060405 NP_001028522 NP_001297678 Location (UCSC) Chr 4: 101.41 – 102.07 Mb Chr 3: 135.76 – 136.03 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

B cell scaffold protein with ankyrin repeats 1 is a protein that in humans is encoded by the BANK1 gene. ^[5]

Function

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].

References

1. GRCh38: Ensembl release 89: ENSG00000153064 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000037922 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: B cell scaffold protein with ankyrin repeats 1" . Retrieved 2018-06-04.

Further reading

• Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga Reddy MV, Sanchez E, Gunnarsson I, Svenungsson E, Sturfelt G, Jönsen A, Truedsson L, Pons-Estel BA, Witte T, D'Alfonso S, Barizzone N, Barrizzone N, Danieli MG, Gutierrez C, Suarez A, Junker P, Laustrup H, González-Escribano MF, Martin J, Abderrahim H, Alarcón-Riquelme ME (February 2008). "Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus". Nat. Genet. 40 (2): 211–6. doi:10.1038/ng.79. hdl: 10651/7257 . PMID   18204447. S2CID   21256707.
• Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga Reddy MV, Sanchez E, Gunnarsson I, Svenungsson E, Sturfelt G, Jönsen A, Truedsson L, Pons-Estel BA, Witte T, D'Alfonso S, Barizzone N, Barrizzone N, Danieli MG, Gutierrez C, Suarez A, Junker P, Laustrup H, González-Escribano MF, Martin J, Abderrahim H, Alarcón-Riquelme ME (February 2008). "Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus". Nat. Genet. 40 (2): 211–6. doi:10.1038/ng.79. hdl: 10651/7257 . PMID   18204447. S2CID   21256707.
• Fung EY, Smyth DJ, Howson JM, Cooper JD, Walker NM, Stevens H, Wicker LS, Todd JA (March 2009). "Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus". Genes Immun. 10 (2): 188–91. doi: 10.1038/gene.2008.99 . PMID   19110536.
• Orozco G, Abelson AK, González-Gay MA, Balsa A, Pascual-Salcedo D, García A, Fernández-Gutierrez B, Petersson I, Pons-Estel B, Eimon A, Paira S, Scherbarth HR, Alarcón-Riquelme M, Martín J (February 2009). "Study of functional variants of the BANK1 gene in rheumatoid arthritis". Arthritis Rheum. 60 (2): 372–9. doi: 10.1002/art.24244 . PMID   19180476.
• Orozco G, Abelson AK, González-Gay MA, Balsa A, Pascual-Salcedo D, García A, Fernández-Gutierrez B, Petersson I, Pons-Estel B, Eimon A, Paira S, Scherbarth HR, Alarcón-Riquelme M, Martín J (February 2009). "Study of functional variants of the BANK1 gene in rheumatoid arthritis". Arthritis Rheum. 60 (2): 372–9. doi: 10.1002/art.24244 . PMID   19180476.
• Guo L, Deshmukh H, Lu R, Vidal GS, Kelly JA, Kaufman KM, Dominguez N, Klein W, Kim-Howard X, Bruner GR, Scofield RH, Moser KL, Gaffney PM, Dozmorov IM, Gilkeson GS, Wakeland EK, Li QZ, Langefeld CD, Marion MC, Williams AH, Divers J, Alarcón GS, Brown EE, Kimberly RP, Edberg JC, Ramsey-Goldman R, Reveille JD, McGwin G, Vilá LM, Petri MA, Vyse TJ, Merrill JT, James JA, Nath SK, Harley JB, Guthridge JM (July 2009). "Replication of the BANK1 genetic association with systemic lupus erythematosus in a European-derived population". Genes Immun. 10 (5): 531–8. doi:10.1038/gene.2009.18. PMC   2736873 . PMID   19339986.
• Guo L, Deshmukh H, Lu R, Vidal GS, Kelly JA, Kaufman KM, Dominguez N, Klein W, Kim-Howard X, Bruner GR, Scofield RH, Moser KL, Gaffney PM, Dozmorov IM, Gilkeson GS, Wakeland EK, Li QZ, Langefeld CD, Marion MC, Williams AH, Divers J, Alarcón GS, Brown EE, Kimberly RP, Edberg JC, Ramsey-Goldman R, Reveille JD, McGwin G, Vilá LM, Petri MA, Vyse TJ, Merrill JT, James JA, Nath SK, Harley JB, Guthridge JM (July 2009). "Replication of the BANK1 genetic association with systemic lupus erythematosus in a European-derived population". Genes Immun. 10 (5): 531–8. doi:10.1038/gene.2009.18. PMC   2736873 . PMID   19339986.
• Chang YK, Yang W, Zhao M, Mok CC, Chan TM, Wong RW, Lee KW, Mok MY, Wong SN, Ng IO, Lee TL, Ho MH, Lee PP, Wong WH, Lau CS, Sham PC, Lau YL (July 2009). "Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese". Genes Immun. 10 (5): 414–20. doi:10.1038/gene.2009.16. PMC   2834352 . PMID   19357697.
• Chang YK, Yang W, Zhao M, Mok CC, Chan TM, Wong RW, Lee KW, Mok MY, Wong SN, Ng IO, Lee TL, Ho MH, Lee PP, Wong WH, Lau CS, Sham PC, Lau YL (July 2009). "Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese". Genes Immun. 10 (5): 414–20. doi:10.1038/gene.2009.16. PMC   2834352 . PMID   19357697.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.