B-cell maturation antigen
| Tumor necrosis factor receptor superfamily, member 17 | |||||||||||||
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PDB rendering based on 1oqd. | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | TNFRSF17 ; BCM; BCMA; CD269; TNFRSF13A | ||||||||||||
| External IDs | OMIM: 109545 MGI: 1343050 HomoloGene: 920 GeneCards: TNFRSF17 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 608 | 21935 | |||||||||||
| Ensembl | ENSG00000048462 | ENSMUSG00000022496 | |||||||||||
| UniProt | Q02223 | O88472 | |||||||||||
| RefSeq (mRNA) | NM_001192 | NM_011608 | |||||||||||
| RefSeq (protein) | NP_001183 | NP_035738 | |||||||||||
| Location (UCSC) |
Chr 16: 11.97 – 11.97 Mb |
Chr 16: 11.31 – 11.32 Mb | |||||||||||
| PubMed search | |||||||||||||
| BCMA TALL-1 binding domain | |||||||||
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 crystal structure of stall-1 and bcma | |||||||||
| Identifiers | |||||||||
| Symbol | BCMA-Tall_bind | ||||||||
| Pfam | PF09257 | ||||||||
| InterPro | IPR015337 | ||||||||
| SCOP | 1oqd | ||||||||
| SUPERFAMILY | 1oqd | ||||||||
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B-cell maturation antigen (BCMA or BCM), also known as tumor necrosis factor receptor superfamily member 17 (TNFRSF17), is a protein that in humans is encoded by the TNFRSF17 gene.
TNFRSF17 is a cell surface receptor of the TNF receptor superfamily which recognizes B-cell activating factor (BAFF).[1][2][3]
Function
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation.[3]
Interactions
TNFRSF17 has been shown to interact with the B-cell activating factor TNFSF13B.[4][5] A conserved domain at the N-terminus, BCMA TALL-1 binding domain, is required for binding to the TNFSF13B.[4]
Diseases
TNFRSF17 is implicated in leukemia, lymphomas, and multiple myeloma [6] (see the "Mitelman Database" [7] and the Atlas of Genetics and Cytogenetics in Oncology and Haematology,[8]).
References
- ↑ Laâbi Y, Gras MP, Carbonnel F, Brouet JC, Berger R, Larsen CJ, Tsapis A (Nov 1992). "A new gene, BCM, on chromosome 16 is fused to the interleukin 2 gene by a t(4;16)(q26;p13) translocation in a malignant T cell lymphoma". The EMBO Journal 11 (11): 3897–904. PMC 556899. PMID 1396583.
- ↑ Laabi Y, Gras MP, Brouet JC, Berger R, Larsen CJ, Tsapis A (Apr 1994). "The BCMA gene, preferentially expressed during B lymphoid maturation, is bidirectionally transcribed". Nucleic Acids Research 22 (7): 1147–54. doi:10.1093/nar/22.7.1147. PMC 523635. PMID 8165126.
- 1 2 "Entrez Gene: TNFRSF17 tumor necrosis factor receptor superfamily, member 17".
- 1 2 Liu Y, Hong X, Kappler J, Jiang L, Zhang R, Xu L, Pan CH, Martin WE, Murphy RC, Shu HB, Dai S, Zhang G (May 2003). "Ligand-receptor binding revealed by the TNF family member TALL-1". Nature 423 (6935): 49–56. doi:10.1038/nature01543. PMID 12721620.
- ↑ Shu HB, Johnson H (Aug 2000). "B cell maturation protein is a receptor for the tumor necrosis factor family member TALL-1". Proceedings of the National Academy of Sciences of the United States of America 97 (16): 9156–61. doi:10.1073/pnas.160213497. PMC 16838. PMID 10908663.
- ↑ http://atlasgeneticsoncology.org/Genes/TNFRSF17ID42616ch16p13.html
- ↑ "Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer".
- ↑ "Atlas of Genetics and Cytogenetics in Oncology and Haematology". atlasgeneticsoncology.org.
Further reading
- Treml LS, Crowley JE, Cancro MP (Oct 2006). "BLyS receptor signatures resolve homeostatically independent compartments among naïve and antigen-experienced B cells". Seminars in Immunology 18 (5): 297–304. doi:10.1016/j.smim.2006.07.001. PMID 16919470.
- Mackay F, Leung H (Oct 2006). "The role of the BAFF/APRIL system on T cell function". Seminars in Immunology 18 (5): 284–9. doi:10.1016/j.smim.2006.04.005. PMID 16931039.
- Gras MP, Laâbi Y, Linares-Cruz G, Blondel MO, Rigaut JP, Brouet JC, Leca G, Haguenauer-Tsapis R, Tsapis A (Jul 1995). "BCMAp: an integral membrane protein in the Golgi apparatus of human mature B lymphocytes". International Immunology 7 (7): 1093–106. doi:10.1093/intimm/7.7.1093. PMID 8527407.
- Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J, Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y, Xu RX, Kang HL, Mitchell S, Eichler EE, Harris PC, Venter JC, Adams MD (Sep 1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics 60 (3): 295–308. doi:10.1006/geno.1999.5927. PMID 10493829.
- Gross JA, Johnston J, Mudri S, Enselman R, Dillon SR, Madden K, Xu W, Parrish-Novak J, Foster D, Lofton-Day C, Moore M, Littau A, Grossman A, Haugen H, Foley K, Blumberg H, Harrison K, Kindsvogel W, Clegg CH (Apr 2000). "TACI and BCMA are receptors for a TNF homologue implicated in B-cell autoimmune disease". Nature 404 (6781): 995–9. doi:10.1038/35010115. PMID 10801128.
- Hatzoglou A, Roussel J, Bourgeade MF, Rogier E, Madry C, Inoue J, Devergne O, Tsapis A (Aug 2000). "TNF receptor family member BCMA (B cell maturation) associates with TNF receptor-associated factor (TRAF) 1, TRAF2, and TRAF3 and activates NF-kappa B, elk-1, c-Jun N-terminal kinase, and p38 mitogen-activated protein kinase". Journal of Immunology 165 (3): 1322–30. doi:10.4049/jimmunol.165.3.1322. PMID 10903733.
- Shu HB, Johnson H (Aug 2000). "B cell maturation protein is a receptor for the tumor necrosis factor family member TALL-1". Proceedings of the National Academy of Sciences of the United States of America 97 (16): 9156–61. doi:10.1073/pnas.160213497. PMC 16838. PMID 10908663.
- Yu G, Boone T, Delaney J, Hawkins N, Kelley M, Ramakrishnan M, McCabe S, Qiu WR, Kornuc M, Xia XZ, Guo J, Stolina M, Boyle WJ, Sarosi I, Hsu H, Senaldi G, Theill LE (Sep 2000). "APRIL and TALL-I and receptors BCMA and TACI: system for regulating humoral immunity". Nature Immunology 1 (3): 252–6. doi:10.1038/79802. PMID 10973284.
- Kawasaki A, Tsuchiya N, Fukazawa T, Hashimoto H, Tokunaga K (Aug 2001). "Presence of four major haplotypes in human BCMA gene: lack of association with systemic lupus erythematosus and rheumatoid arthritis". Genes and Immunity 2 (5): 276–9. doi:10.1038/sj.gene.6363770. PMID 11528522.
- Novak AJ, Darce JR, Arendt BK, Harder B, Henderson K, Kindsvogel W, Gross JA, Greipp PR, Jelinek DF (Jan 2004). "Expression of BCMA, TACI, and BAFF-R in multiple myeloma: a mechanism for growth and survival". Blood 103 (2): 689–94. doi:10.1182/blood-2003-06-2043. PMID 14512299.
- Hymowitz SG, Patel DR, Wallweber HJ, Runyon S, Yan M, Yin J, Shriver SK, Gordon NC, Pan B, Skelton NJ, Kelley RF, Starovasnik MA (Feb 2005). "Structures of APRIL-receptor complexes: like BCMA, TACI employs only a single cysteine-rich domain for high affinity ligand binding". The Journal of Biological Chemistry 280 (8): 7218–27. doi:10.1074/jbc.M411714200. PMID 15542592.
- Bellucci R, Alyea EP, Chiaretti S, Wu CJ, Zorn E, Weller E, Wu B, Canning C, Schlossman R, Munshi NC, Anderson KC, Ritz J (May 2005). "Graft-versus-tumor response in patients with multiple myeloma is associated with antibody response to BCMA, a plasma-cell membrane receptor". Blood 105 (10): 3945–50. doi:10.1182/blood-2004-11-4463. PMC 1895080. PMID 15692072.
- Hendriks J, Planelles L, de Jong-Odding J, Hardenberg G, Pals ST, Hahne M, Spaargaren M, Medema JP (Jun 2005). "Heparan sulfate proteoglycan binding promotes APRIL-induced tumor cell proliferation". Cell Death and Differentiation 12 (6): 637–48. doi:10.1038/sj.cdd.4401647. PMID 15846369.
- Chiu A, Xu W, He B, Dillon SR, Gross JA, Sievers E, Qiao X, Santini P, Hyjek E, Lee JW, Cesarman E, Chadburn A, Knowles DM, Cerutti A (Jan 2007). "Hodgkin lymphoma cells express TACI and BCMA receptors and generate survival and proliferation signals in response to BAFF and APRIL". Blood 109 (2): 729–39. doi:10.1182/blood-2006-04-015958. PMC 1785096. PMID 16960154.
- Smirnova AS, Andrade-Oliveira V, Gerbase-DeLima M (Feb 2008). "Identification of new splice variants of the genes BAFF and BCMA". Molecular Immunology 45 (4): 1179–1183. doi:10.1016/j.molimm.2007.07.028. PMID 17825416.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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This article incorporates text from the public domain Pfam and InterPro IPR015337
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