B-cell maturation antigen

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TNFRSF17
Protein TNFRSF17 PDB 1oqd.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTNFRSF17, BCM, BCMA, CD269, TNFRSF13A, tumor necrosis factor receptor superfamily member 17, TNF receptor superfamily member 17
External IDsMGI: 1343050 HomoloGene: 920 GeneCards: TNFRSF17
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for TNFRSF17
Genomic location for TNFRSF17
Band16p13.13Start11,965,210 bp[1]
End11,968,068 bp[1]
RNA expression pattern
PBB GE TNFRSF17 206641 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001192

NM_011608

RefSeq (protein)

NP_001183

NP_035738

Location (UCSC)Chr 16: 11.97 – 11.97 MbChr 16: 11.31 – 11.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
BCMA TALL-1 binding domain
PDB 1oqd EBI.jpg
crystal structure of stall-1 and bcma
Identifiers
SymbolBCMA-Tall_bind
PfamPF09257
InterProIPR015337
SCOPe1oqd / SUPFAM

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).[5][6][7]

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.[7]

Interactions

TNFRSF17 has been shown to interact with the B-cell activating factor TNFSF13B.[8][9] A conserved domain at the N-terminus, BCMA TALL-1 binding domain, is required for binding to the TNFSF13B.[8]

Diseases

TNFRSF17 is implicated in leukemia, lymphomas, and multiple myeloma [10] (see the "Mitelman Database" [11] and the Atlas of Genetics and Cytogenetics in Oncology and Haematology,[12]).

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000048462 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022496 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: TNFRSF17 tumor necrosis factor receptor superfamily, member 17".
  8. ^ a b 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.
  9. ^ 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.
  10. ^ http://atlasgeneticsoncology.org/Genes/TNFRSF17ID42616ch16p13.html
  11. ^ "Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer".
  12. ^ "Atlas of Genetics and Cytogenetics in Oncology and Haematology". atlasgeneticsoncology.org.

Further reading

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

This article incorporates text from the public domain Pfam and InterPro: IPR015337