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Q02223 (TNR17_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 147. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Tumor necrosis factor receptor superfamily member 17
Alternative name(s):
B-cell maturation protein
CD_antigen=CD269
Gene names
Name:TNFRSF17
Synonyms:BCM, BCMA
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length184 AA.
Sequence statusComplete.
Protein existenceEvidence 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.9 Ref.10 Ref.11

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.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q02223-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q02223-2)

Also known as: TV4;

The sequence of this isoform differs from the canonical sequence as follows:
     44-93: SVTNSVKGTNAILWTCLGLSLIISLAVFVLMFLLRKINSEPLKDEFKNTG → R
Note: Observed only in some CD19+ cell samples.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 184184Tumor necrosis factor receptor superfamily member 17
PRO_0000058935

Regions

Topological domain1 – 5454Extracellular Potential
Transmembrane55 – 7723Helical; Signal-anchor for type III membrane protein; Potential
Topological domain78 – 184107Cytoplasmic Potential
Repeat7 – 4135TNFR-Cys

Sites

Site3 – 42Breakpoint for translocation to form IL2/TNFRSF17 oncogene

Amino acid modifications

Disulfide bond8 ↔ 21 Ref.13 Ref.14
Disulfide bond24 ↔ 37 Ref.13 Ref.14
Disulfide bond28 ↔ 41 Ref.13 Ref.14

Natural variations

Alternative sequence44 – 9350SVTNS…FKNTG → R in isoform 2.
VSP_047678
Natural variant541A → V. Ref.6
Corresponds to variant rs11570146 [ dbSNP | Ensembl ].
VAR_018755
Natural variant651I → V. Ref.6
Corresponds to variant rs11570147 [ dbSNP | Ensembl ].
VAR_018756
Natural variant751F → V. Ref.6
Corresponds to variant rs11570148 [ dbSNP | Ensembl ].
VAR_018757
Natural variant811N → S. Ref.1 Ref.2 Ref.3 Ref.6 Ref.7
Corresponds to variant rs373496 [ dbSNP | Ensembl ].
VAR_018758
Natural variant1531A → T. Ref.3
Corresponds to variant rs150352299 [ dbSNP | Ensembl ].
VAR_012234
Natural variant1651C → S. Ref.6
Corresponds to variant rs11570159 [ dbSNP | Ensembl ].
VAR_018759
Natural variant1761E → D.
Corresponds to variant rs34546237 [ dbSNP | Ensembl ].
VAR_061855

Secondary structure

........... 184
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 30, 2010. Version 2.
Checksum: B6D87B3685F66022

FASTA18420,165
        10         20         30         40         50         60 
MLQMAGQCSQ NEYFDSLLHA CIPCQLRCSS NTPPLTCQRY CNASVTNSVK GTNAILWTCL 

        70         80         90        100        110        120 
GLSLIISLAV FVLMFLLRKI NSEPLKDEFK NTGSGLLGMA NIDLEKSRTG DEIILPRGLE 

       130        140        150        160        170        180 
YTVEECTCED CIKSKPKVDS DHCFPLPAME EGATILVTTK TNDYCKSLPA ALSATEIEKS 


ISAR 

« Hide

Isoform 2 (TV4) [UniParc].

Checksum: FC3D1DDBB1195989
Show »

FASTA13514,843

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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION, VARIANT SER-81.
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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT SER-81.
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-81 AND THR-153.
[4]"Identification of new splice variants of the genes BAFF and BCMA."
Smirnova A.S., Andrade-Oliveira V., Gerbase-DeLima M.
Mol. Immunol. 45:1179-1183(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Peripheral blood.
[5]"Novel, secreted isoform of human tumor necrosis factor receptor superfamily, member 17 (TNFRSF17)."
Maia S., Freeman G.J., Nadler L.M., Cardoso A.A.
Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[6]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; SER-81 AND SER-165.
[7]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-81.
[8]"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. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]"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] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH TRAF1 AND TRAF3.
[10]"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] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[11]"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] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH APRIL AND BAFF.
[12]"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] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH TRAF5 AND TRAF6.
[13]"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] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 8-46 IN COMPLEX WITH TNFSF13B, DISULFIDE BONDS.
[14]"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] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.35 ANGSTROMS) OF 5-51 IN COMPLEX WITH MOUSE TNFSF13B, DISULFIDE BONDS.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Z14954 mRNA. Translation: CAA78679.1.
Z29574 Genomic DNA. Translation: CAA82690.1.
Z29575 mRNA. Translation: CAA82691.1.
AB052772 Genomic DNA. Translation: BAB60895.1.
EF152355 mRNA. Translation: ABN42510.1.
AY684975 mRNA. Translation: AAV92616.1.
AY509112 Genomic DNA. Translation: AAR84240.1.
U95742 Genomic DNA. Translation: AAB67251.1.
AC007216 Genomic DNA. No translation available.
PIRS43486.
RefSeqNP_001183.2. NM_001192.2.
UniGeneHs.2556.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1OQDX-ray2.60K/L/M/N/O/P/Q/R8-46[»]
1XU2X-ray2.35R/S/T5-51[»]
2KN1NMR-A2-50[»]
ProteinModelPortalQ02223.
SMRQ02223. Positions 8-46.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107080. 7 interactions.
IntActQ02223. 4 interactions.
STRING9606.ENSP00000053243.

Chemistry

GuidetoPHARMACOLOGY1889.

PTM databases

PhosphoSiteQ02223.

Polymorphism databases

DMDM399104.

Proteomic databases

PaxDbQ02223.
PRIDEQ02223.

Protocols and materials databases

DNASU608.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000053243; ENSP00000053243; ENSG00000048462. [Q02223-1]
ENST00000396495; ENSP00000379753; ENSG00000048462. [Q02223-2]
GeneID608.
KEGGhsa:608.
UCSCuc002dbv.3. human. [Q02223-1]

Organism-specific databases

CTD608.
GeneCardsGC16P012058.
HGNCHGNC:11913. TNFRSF17.
HPAHPA010569.
MIM109545. gene.
neXtProtNX_Q02223.
PharmGKBPA36606.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG46220.
HOGENOMHOG000129926.
HOVERGENHBG062796.
InParanoidQ02223.
KOK05153.
OMAFPLPAME.
OrthoDBEOG7Z95NN.
PhylomeDBQ02223.
TreeFamTF337842.

Gene expression databases

ArrayExpressQ02223.
BgeeQ02223.
CleanExHS_TNFRSF17.
GenevestigatorQ02223.

Family and domain databases

InterProIPR015337. BCMA_Tall-1-bd.
IPR022320. TNFR_17.
[Graphical view]
PfamPF09257. BCMA-Tall_bind. 1 hit.
[Graphical view]
PIRSFPIRSF011859. BCMA_Tall-1_bd. 1 hit.
PRINTSPR01967. TNFACTORR17.
ProtoNetSearch...

Other

ChiTaRSTNFRSF17. human.
EvolutionaryTraceQ02223.
GeneWikiTNFRSF17.
GenomeRNAi608.
NextBio2473.
PROQ02223.
SOURCESearch...

Entry information

Entry nameTNR17_HUMAN
AccessionPrimary (citable) accession number: Q02223
Secondary accession number(s): Q2TQ40
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: November 30, 2010
Last modified: March 19, 2014
This is version 147 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries