Reviewed,
UniProtKB/Swiss-Prot Q02223 (TNR17_HUMAN)
Last modified
February 9, 2010.
Version 108.
History...
Clusters with 100%,
90%,
50% identity |
Documents (7) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Tumor necrosis factor receptor superfamily member 17 Alternative name(s): B-cell maturation protein CD_antigen=CD269 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 184 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Receptor for TNFSF13B/BLyS/BAFF and TNFSF13/APRIL. Promotes B-cell survival and plays a role in the regulation of humoral immunity. Activates NF-kappa-B and JNK. Ref.7 Ref.8 Ref.9 |
| Subunit structure | Associates with TRAF1, TRAF2, TRAF3, TRAF5 and TRAF6. |
| Subcellular location | Cell membrane; Single-pass type III membrane protein. Endomembrane system; Single-pass type III membrane protein. Note: Perinuclear Golgi-like structures. |
| Tissue specificity | Expressed in mature B-cells, but not in T-cells or monocytes. |
| Involvement in disease | A chromosomal aberration involving TNFRSF17 is found in a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation t(4;16)(q26;p13) with IL2. |
| Sequence similarities | Contains 1 TNFR-Cys repeat. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Immune response |
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Chromosomal rearrangement Polymorphism |
| Disease | Proto-oncogene |
| Domain | Signal-anchor Transmembrane |
| Molecular function | Receptor |
| PTM | Disulfide bond |
| Technical term | 3D-structure Complete proteome |
| Gene Ontology (GO) | |
| Biological process | cell proliferation Ref.10 Traceable author statement. Source: ProtInc immune responseInferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Ref.2Traceable author statement. Source: ProtInc signal transduction Ref.10Traceable author statement. Source: ProtInc |
| Cellular component | integral to membrane Ref.1 Traceable author statement. Source: ProtInc plasma membrane Ref.10Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||
Molecule processing | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 184 | 184 | Tumor necrosis factor receptor superfamily member 17 | PRO_0000058935 | |||||||||||||||
Regions | |||||||||||||||||||
| Topological domain | 1 – 54 | 54 | Extracellular Potential | ||||||||||||||||
| Transmembrane | 55 – 77 | 23 | Signal-anchor for type III membrane protein Potential | ||||||||||||||||
| Topological domain | 78 – 184 | 107 | Cytoplasmic Potential | ||||||||||||||||
| Repeat | 7 – 41 | 35 | TNFR-Cys | ||||||||||||||||
Sites | |||||||||||||||||||
| Site | 3 – 4 | 2 | Breakpoint for translocation to form IL2/TNFRSF17 oncogene | ||||||||||||||||
Amino acid modifications | |||||||||||||||||||
| Disulfide bond | 8 ↔ 21 | Ref.11 Ref.12 | |||||||||||||||||
| Disulfide bond | 24 ↔ 37 | Ref.11 Ref.12 | |||||||||||||||||
| Disulfide bond | 28 ↔ 41 | Ref.11 Ref.12 | |||||||||||||||||
Natural variations | |||||||||||||||||||
| Natural variant | 54 | 1 | A → V: dbSNP rs11570146. Ref.4 | VAR_018755 | |||||||||||||||
| Natural variant | 65 | 1 | I → V: dbSNP rs11570147. Ref.4 | VAR_018756 | |||||||||||||||
| Natural variant | 75 | 1 | F → V: dbSNP rs11570148. Ref.4 | VAR_018757 | |||||||||||||||
| Natural variant | 81 | 1 | S → N: dbSNP rs373496. Ref.4 | VAR_018758 | |||||||||||||||
| Natural variant | 153 | 1 | A → T | VAR_012234 | |||||||||||||||
| Natural variant | 165 | 1 | C → S: dbSNP rs11570159. Ref.4 | VAR_018759 | |||||||||||||||
| Natural variant | 176 | 1 | E → D: dbSNP rs34546237. | VAR_061855 | |||||||||||||||
Secondary structure | |||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||
| Beta strand | 12 – 15 | 4 | |||||||||||||||||
| Turn | 16 – 19 | 4 | |||||||||||||||||
| Beta strand | 20 – 23 | 4 | |||||||||||||||||
| Helix | 24 – 26 | 3 | |||||||||||||||||
| Turn | 27 – 29 | 3 | |||||||||||||||||
| Beta strand | 30 – 32 | 3 | |||||||||||||||||
| Helix | 35 – 37 | 3 | |||||||||||||||||
| Helix | 38 – 42 | 5 | |||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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." Laabi Y., Gras M.P., Carbonnel F., Brouet J.C., Berger R., Larsen C.-J., Tsapis A. EMBO J. 11:3897-3904(1992) [PubMed: 1396583] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHROMOSOMAL TRANSLOCATION. Tissue: Lymph node and Peripheral blood leukocyte. |
| [2] | "The BCMA gene, preferentially expressed during B lymphoid maturation, is bidirectionally transcribed." Laabi Y., Gras M.P., Brouet J.C., Berger R., Larsen C.J., Tsapis A. Nucleic Acids Res. 22:1147-1154(1994) [PubMed: 8165126] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]. |
| [3] | "Presence of four major haplotypes in human BCMA gene: lack of association with systemic lupus erythematosus and rheumatoid arthritis." Kawasaki A., Tsuchiya N., Fukazawa T., Hashimoto H., Tokunaga K. Genes Immun. 2:276-279(2001) [PubMed: 11528522] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT THR-153. |
| [4] | NIEHS SNPs program Submitted (DEC-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-54; VAL-65; VAL-75; ASN-81 AND SER-165. |
| [5] | "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q." Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R., Fuhrmann J., Mason T., Crosby M.L., Barnstead M., Cronin L., Mays A.D., Cao Y., Xu R.X., Kang H.-L., Mitchell S., Eichler E.E., Harris P.C., Venter J.C., Adams M.D. Genomics 60:295-308(1999) [PubMed: 10493829] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. Pennacchio L.A.Nature 432:988-994(2004) [PubMed: 15616553] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "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." Hatzoglou A., Roussel J., Bourgeade M.-F., Rogier E., Madry C., Inoue J., Devergne O., Tsapis A. J. Immunol. 165:1322-1330(2000) [PubMed: 10903733] [Abstract] Cited for: FUNCTION, INTERACTION WITH TRAF1 AND TRAF3. |
| [8] | "TACI and BCMA are receptors for a TNF homologue implicated in B-cell autoimmune disease." Gross J.A., Johnston J., Mudri S., Enselman R., Dillon S.R., 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 C.H. Nature 404:995-999(2000) [PubMed: 10801128] [Abstract] Cited for: FUNCTION. |
| [9] | "APRIL and TALL-I and receptors BCMA and TACI: system for regulating humoral immunity." Yu G., Boone T., Delaney J., Hawkins N., Kelley M.J., Ramakrishnan M., McCabe S., Qiu W.R., Kornuc M., Xia X.-Z., Guo J., Stolina M., Boyle W.J., Sarosi I., Hsu H., Senaldi G., Theill L.E. Nat. Immunol. 1:252-256(2000) [PubMed: 10973284] [Abstract] Cited for: FUNCTION, INTERACTION WITH APRIL AND BAFF. |
| [10] | "B cell maturation protein is a receptor for the tumor necrosis factor family member TALL-1." Shu H.-B., Johnson H. Proc. Natl. Acad. Sci. U.S.A. 97:9156-9161(2000) [PubMed: 10908663] [Abstract] Cited for: INTERACTION WITH TRAF5 AND TRAF6. |
| [11] | "Ligand-receptor binding revealed by the TNF family member TALL-1." Liu Y., Hong X., Kappler J., Jiang L., Zhang R., Xu L., Pan C.-H., Martin W.E., Murphy R.C., Shu H.-B., Dai S., Zhang G. Nature 423:49-56(2003) [PubMed: 12721620] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 8-46 IN COMPLEX WITH TNFSF13B, DISULFIDE BONDS. |
| [12] | "Structures of APRIL-receptor complexes: like BCMA, TACI employs only a single cysteine-rich domain for high affinity ligand binding." Hymowitz S.G., Patel D.R., Wallweber H.J., Runyon S., Yan M., Yin J., Shriver S.K., Gordon N.C., Pan B., Skelton N.J., Kelley R.F., Starovasnik M.A. J. Biol. Chem. 280:7218-7227(2005) [PubMed: 15542592] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.35 ANGSTROMS) OF 5-51 IN COMPLEX WITH MOUSE TNFSF13B, DISULFIDE BONDS. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | Z14954 mRNA. Translation: CAA78679.1. Z29575 mRNA. Translation: CAA82691.1. Z29574 Genomic DNA. Translation: CAA82690.1. AY509112 Genomic DNA. Translation: AAR84240.1. AB052772 Genomic DNA. Translation: BAB60895.1. U95742 Genomic DNA. Translation: AAB67251.1. AC007216 Genomic DNA. No translation available. | ||||||||||||||||||
| IPI | IPI00293877. | ||||||||||||||||||
| PIR | S43486. | ||||||||||||||||||
| RefSeq | NP_001183.2. | ||||||||||||||||||
| UniGene | Hs.2556 | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| PDBe RCSB PDB PDBj |
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| ModBase | Search... | ||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||
| IntAct | Q02223. 2 interactions. | ||||||||||||||||||
| STRING | Q02223. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PRIDE | Q02223. | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENST00000053243; ENSP00000053243; ENSG00000048462; Homo sapiens. [Genome view] | ||||||||||||||||||
| GeneID | 608. | ||||||||||||||||||
| KEGG | hsa:608. | ||||||||||||||||||
| UCSC | uc002dbv.1. human. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| CTD | 608. | ||||||||||||||||||
| GeneCards | GC16P011966. | ||||||||||||||||||
| H-InvDB | HIX0038622. | ||||||||||||||||||
| HGNC | HGNC:11913. TNFRSF17. | ||||||||||||||||||
| MIM | 109545. gene. | ||||||||||||||||||
| PharmGKB | PA36606. | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| eggNOG | prNOG18748. | ||||||||||||||||||
| HOGENOM | HBG125470. | ||||||||||||||||||
| HOVERGEN | Q02223. | ||||||||||||||||||
| InParanoid | Q02223. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | Q02223. | ||||||||||||||||||
| Bgee | Q02223. | ||||||||||||||||||
| CleanEx | HS_TNFRSF17. | ||||||||||||||||||
| Genevestigator | Q02223. | ||||||||||||||||||
| GermOnline | ENSG00000048462. Homo sapiens. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| InterPro | IPR015337. BCMA_Tall-1_bd. [Graphical view] | ||||||||||||||||||
| Pfam | PF09257. BCMA-Tall_bind. 1 hit. [Graphical view] | ||||||||||||||||||
| PIRSF | PIRSF011859. BCMA_Tall-1_bd. 1 hit. | ||||||||||||||||||
| PROSITE | PS00652. TNFR_NGFR_1. False negative. PS50050. TNFR_NGFR_2. False negative. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other Resources | |||||||||||||||||||
| NextBio | 2473. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | TNR17_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q02223 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human cell differentiation molecules CD nomenclature of surface proteins of human leucocytes and list of entries |
| Human chromosome 16 Human chromosome 16: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


