Protein-coding gene in the species Homo sapiens
| BANK1 |
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| Identifiers |
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| Aliases | BANK1, BANK, B-cell scaffold protein with ankyrin repeats 1, B cell scaffold protein with ankyrin repeats 1 |
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| External IDs | OMIM: 610292; MGI: 2442120; HomoloGene: 9926; GeneCards: BANK1; OMA:BANK1 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 4 (human)[1] |
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| | Band | 4q24 | Start | 101,411,286 bp[1] |
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| End | 102,074,812 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 3 (mouse)[2] |
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| | Band | 3 G3|3 63.04 cM | Start | 135,759,124 bp[2] |
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| End | 136,031,827 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - lymph node
- spleen
- appendix
- epithelium of nasopharynx
- superficial temporal artery
- testicle
- buccal mucosa cell
- granulocyte
- blood
- tonsil
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| | Top expressed in | - mesenteric lymph nodes
- spleen
- lumbar spinal ganglion
- blood
- subcutaneous adipose tissue
- zygote
- secondary oocyte
- granulocyte
- Paneth cell
- submandibular gland
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| | More reference expression data |
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| BioGPS | |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | |
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NM_017935
NM_001083907
NM_001127507 |
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| RefSeq (protein) | |
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NP_001077376
NP_001120979
NP_060405 |
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| Location (UCSC) | Chr 4: 101.41 – 102.07 Mb | Chr 3: 135.76 – 136.03 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000153064 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037922 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "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. 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. 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.
