TNR17_HUMAN
ID TNR17_HUMAN Reviewed; 184 AA.
AC Q02223; Q2TQ40;
DT 01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 2.
DT 03-AUG-2022, entry version 201.
DE RecName: Full=Tumor necrosis factor receptor superfamily member 17;
DE AltName: Full=B-cell maturation protein;
DE AltName: CD_antigen=CD269;
GN Name=TNFRSF17; Synonyms=BCM, BCMA;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION, AND
RP VARIANT SER-81.
RC TISSUE=Lymph node, and Peripheral blood leukocyte;
RX PubMed=1396583; DOI=10.1002/j.1460-2075.1992.tb05482.x;
RA Laabi Y., Gras M.P., Carbonnel F., Brouet J.C., Berger R., Larsen C.-J.,
RA Tsapis A.;
RT "A new gene, BCM, on chromosome 16 is fused to the interleukin 2 gene by a
RT t(4;16)(q26;p13) translocation in a malignant T cell lymphoma.";
RL EMBO J. 11:3897-3904(1992).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND VARIANT SER-81.
RX PubMed=8165126; DOI=10.1093/nar/22.7.1147;
RA Laabi Y., Gras M.P., Brouet J.C., Berger R., Larsen C.J., Tsapis A.;
RT "The BCMA gene, preferentially expressed during B lymphoid maturation, is
RT bidirectionally transcribed.";
RL Nucleic Acids Res. 22:1147-1154(1994).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-81 AND THR-153.
RX PubMed=11528522; DOI=10.1038/sj.gene.6363770;
RA Kawasaki A., Tsuchiya N., Fukazawa T., Hashimoto H., Tokunaga K.;
RT "Presence of four major haplotypes in human BCMA gene: lack of association
RT with systemic lupus erythematosus and rheumatoid arthritis.";
RL Genes Immun. 2:276-279(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Peripheral blood;
RX PubMed=17825416; DOI=10.1016/j.molimm.2007.07.028;
RA Smirnova A.S., Andrade-Oliveira V., Gerbase-DeLima M.;
RT "Identification of new splice variants of the genes BAFF and BCMA.";
RL Mol. Immunol. 45:1179-1183(2008).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RA Maia S., Freeman G.J., Nadler L.M., Cardoso A.A.;
RT "Novel, secreted isoform of human tumor necrosis factor receptor
RT superfamily, member 17 (TNFRSF17).";
RL Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS VAL-54; VAL-65; VAL-75;
RP SER-81 AND SER-165.
RG NIEHS SNPs program;
RL Submitted (DEC-2003) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT SER-81.
RX PubMed=10493829; DOI=10.1006/geno.1999.5927;
RA Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R., Fuhrmann J.,
RA Mason T., Crosby M.L., Barnstead M., Cronin L., Mays A.D., Cao Y., Xu R.X.,
RA Kang H.-L., Mitchell S., Eichler E.E., Harris P.C., Venter J.C.,
RA Adams M.D.;
RT "Genome duplications and other features in 12 Mb of DNA sequence from human
RT chromosome 16p and 16q.";
RL Genomics 60:295-308(1999).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [9]
RP FUNCTION, AND INTERACTION WITH TRAF1 AND TRAF3.
RX PubMed=10903733; DOI=10.4049/jimmunol.165.3.1322;
RA Hatzoglou A., Roussel J., Bourgeade M.-F., Rogier E., Madry C., Inoue J.,
RA Devergne O., Tsapis A.;
RT "TNF receptor family member BCMA (B cell maturation) associates with TNF
RT receptor-associated factor (TRAF) 1, TRAF2, and TRAF3 and activates NF-
RT kappa B, elk-1, c-Jun N-terminal kinase, and p38 mitogen-activated protein
RT kinase.";
RL J. Immunol. 165:1322-1330(2000).
RN [10]
RP FUNCTION.
RX PubMed=10801128; DOI=10.1038/35010115;
RA Gross J.A., Johnston J., Mudri S., Enselman R., Dillon S.R., Madden K.,
RA Xu W., Parrish-Novak J., Foster D., Lofton-Day C., Moore M., Littau A.,
RA Grossman A., Haugen H., Foley K., Blumberg H., Harrison K., Kindsvogel W.,
RA Clegg C.H.;
RT "TACI and BCMA are receptors for a TNF homologue implicated in B-cell
RT autoimmune disease.";
RL Nature 404:995-999(2000).
RN [11]
RP FUNCTION, AND INTERACTION WITH TNFSF13 AND TNFSF13B.
RX PubMed=10973284; DOI=10.1038/79802;
RA Yu G., Boone T., Delaney J., Hawkins N., Kelley M.J., Ramakrishnan M.,
RA McCabe S., Qiu W.R., Kornuc M., Xia X.-Z., Guo J., Stolina M., Boyle W.J.,
RA Sarosi I., Hsu H., Senaldi G., Theill L.E.;
RT "APRIL and TALL-I and receptors BCMA and TACI: system for regulating
RT humoral immunity.";
RL Nat. Immunol. 1:252-256(2000).
RN [12]
RP INTERACTION WITH TRAF5 AND TRAF6.
RX PubMed=10908663; DOI=10.1073/pnas.160213497;
RA Shu H.-B., Johnson H.;
RT "B cell maturation protein is a receptor for the tumor necrosis factor
RT family member TALL-1.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:9156-9161(2000).
RN [13]
RP X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 8-46 IN COMPLEX WITH TNFSF13B, AND
RP DISULFIDE BONDS.
RX PubMed=12721620; DOI=10.1038/nature01543;
RA Liu Y., Hong X., Kappler J., Jiang L., Zhang R., Xu L., Pan C.-H.,
RA Martin W.E., Murphy R.C., Shu H.-B., Dai S., Zhang G.;
RT "Ligand-receptor binding revealed by the TNF family member TALL-1.";
RL Nature 423:49-56(2003).
RN [14]
RP X-RAY CRYSTALLOGRAPHY (2.35 ANGSTROMS) OF 5-51 IN COMPLEX WITH MOUSE
RP TNFSF13B, AND DISULFIDE BONDS.
RX PubMed=15542592; DOI=10.1074/jbc.m411714200;
RA Hymowitz S.G., Patel D.R., Wallweber H.J., Runyon S., Yan M., Yin J.,
RA Shriver S.K., Gordon N.C., Pan B., Skelton N.J., Kelley R.F.,
RA Starovasnik M.A.;
RT "Structures of APRIL-receptor complexes: like BCMA, TACI employs only a
RT single cysteine-rich domain for high affinity ligand binding.";
RL J. Biol. Chem. 280:7218-7227(2005).
CC -!- FUNCTION: Receptor for TNFSF13B/BLyS/BAFF and TNFSF13/APRIL. Promotes
CC B-cell survival and plays a role in the regulation of humoral immunity.
CC Activates NF-kappa-B and JNK. {ECO:0000269|PubMed:10801128,
CC ECO:0000269|PubMed:10903733, ECO:0000269|PubMed:10973284}.
CC -!- SUBUNIT: Associates with TRAF1, TRAF2, TRAF3, TRAF5 and TRAF6.
CC {ECO:0000269|PubMed:12721620, ECO:0000269|PubMed:15542592}.
CC -!- INTERACTION:
CC Q02223; Q96FZ5: CMTM7; NbExp=3; IntAct=EBI-519945, EBI-2807956;
CC Q02223; Q9Y5Y5: PEX16; NbExp=3; IntAct=EBI-519945, EBI-981985;
CC Q02223; P55061: TMBIM6; NbExp=3; IntAct=EBI-519945, EBI-1045825;
CC -!- SUBCELLULAR LOCATION: Cell membrane; Single-pass type III membrane
CC protein. Endomembrane system; Single-pass type III membrane protein.
CC Note=Perinuclear Golgi-like structures.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q02223-1; Sequence=Displayed;
CC Name=2; Synonyms=TV4;
CC IsoId=Q02223-2; Sequence=VSP_047678;
CC -!- TISSUE SPECIFICITY: Expressed in mature B-cells, but not in T-cells or
CC monocytes.
CC -!- DISEASE: Note=A chromosomal aberration involving TNFRSF17 is found in a
CC form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation
CC t(4;16)(q26;p13) with IL2. {ECO:0000269|PubMed:1396583}.
CC -!- MISCELLANEOUS: [Isoform 2]: Observed only in some CD19+ cell.
CC {ECO:0000305}.
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/tnfrsf17/";
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DR EMBL; Z14954; CAA78679.1; -; mRNA.
DR EMBL; Z29574; CAA82690.1; -; Genomic_DNA.
DR EMBL; Z29575; CAA82691.1; -; mRNA.
DR EMBL; AB052772; BAB60895.1; -; Genomic_DNA.
DR EMBL; EF152355; ABN42510.1; -; mRNA.
DR EMBL; AY684975; AAV92616.1; -; mRNA.
DR EMBL; AY509112; AAR84240.1; -; Genomic_DNA.
DR EMBL; U95742; AAB67251.1; -; Genomic_DNA.
DR EMBL; AC007216; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS10552.1; -. [Q02223-1]
DR PIR; S43486; S43486.
DR RefSeq; NP_001183.2; NM_001192.2. [Q02223-1]
DR PDB; 1OQD; X-ray; 2.60 A; K/L/M/N/O/P/Q/R=8-46.
DR PDB; 1XU2; X-ray; 2.35 A; R/S/T=5-51.
DR PDB; 2KN1; NMR; -; A=2-50.
DR PDB; 4ZFO; X-ray; 1.90 A; F/K=1-54.
DR PDB; 6J7W; X-ray; 2.60 A; C/D=6-44.
DR PDBsum; 1OQD; -.
DR PDBsum; 1XU2; -.
DR PDBsum; 2KN1; -.
DR PDBsum; 4ZFO; -.
DR PDBsum; 6J7W; -.
DR AlphaFoldDB; Q02223; -.
DR BMRB; Q02223; -.
DR SMR; Q02223; -.
DR BioGRID; 107080; 26.
DR IntAct; Q02223; 18.
DR STRING; 9606.ENSP00000053243; -.
DR ChEMBL; CHEMBL4523587; -.
DR DrugBank; DB15719; Belantamab mafodotin.
DR DrugBank; DB16665; Idecabtagene vicleucel.
DR GuidetoPHARMACOLOGY; 1889; -.
DR GlyGen; Q02223; 1 site.
DR iPTMnet; Q02223; -.
DR PhosphoSitePlus; Q02223; -.
DR BioMuta; TNFRSF17; -.
DR DMDM; 313104029; -.
DR jPOST; Q02223; -.
DR MassIVE; Q02223; -.
DR PaxDb; Q02223; -.
DR PeptideAtlas; Q02223; -.
DR PRIDE; Q02223; -.
DR ProteomicsDB; 58062; -. [Q02223-1]
DR ProteomicsDB; 61498; -.
DR ABCD; Q02223; 224 sequenced antibodies.
DR Antibodypedia; 11568; 692 antibodies from 42 providers.
DR CPTC; Q02223; 1 antibody.
DR DNASU; 608; -.
DR Ensembl; ENST00000053243.6; ENSP00000053243.1; ENSG00000048462.11. [Q02223-1]
DR Ensembl; ENST00000396495.3; ENSP00000379753.3; ENSG00000048462.11. [Q02223-2]
DR GeneID; 608; -.
DR KEGG; hsa:608; -.
DR MANE-Select; ENST00000053243.6; ENSP00000053243.1; NM_001192.3; NP_001183.2.
DR UCSC; uc002dbv.3; human. [Q02223-1]
DR CTD; 608; -.
DR DisGeNET; 608; -.
DR GeneCards; TNFRSF17; -.
DR HGNC; HGNC:11913; TNFRSF17.
DR HPA; ENSG00000048462; Tissue enhanced (intestine, lymphoid tissue, stomach).
DR MIM; 109545; gene.
DR neXtProt; NX_Q02223; -.
DR OpenTargets; ENSG00000048462; -.
DR PharmGKB; PA36606; -.
DR VEuPathDB; HostDB:ENSG00000048462; -.
DR eggNOG; ENOG502SF2N; Eukaryota.
DR GeneTree; ENSGT00940000154485; -.
DR HOGENOM; CLU_131588_0_0_1; -.
DR InParanoid; Q02223; -.
DR OMA; CHLRCSN; -.
DR OrthoDB; 1334921at2759; -.
DR PhylomeDB; Q02223; -.
DR TreeFam; TF337842; -.
DR PathwayCommons; Q02223; -.
DR Reactome; R-HSA-5669034; TNFs bind their physiological receptors.
DR SignaLink; Q02223; -.
DR SIGNOR; Q02223; -.
DR BioGRID-ORCS; 608; 11 hits in 1070 CRISPR screens.
DR ChiTaRS; TNFRSF17; human.
DR EvolutionaryTrace; Q02223; -.
DR GeneWiki; TNFRSF17; -.
DR GenomeRNAi; 608; -.
DR Pharos; Q02223; Tclin.
DR PRO; PR:Q02223; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q02223; protein.
DR Bgee; ENSG00000048462; Expressed in rectum and 117 other tissues.
DR ExpressionAtlas; Q02223; baseline and differential.
DR Genevisible; Q02223; HS.
DR GO; GO:0012505; C:endomembrane system; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; TAS:ProtInc.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0038023; F:signaling receptor activity; TAS:ProtInc.
DR GO; GO:0002250; P:adaptive immune response; IEA:UniProtKB-KW.
DR GO; GO:0002260; P:lymphocyte homeostasis; IEA:Ensembl.
DR GO; GO:0007165; P:signal transduction; TAS:ProtInc.
DR GO; GO:0033209; P:tumor necrosis factor-mediated signaling pathway; IEA:InterPro.
DR CDD; cd13414; TNFRSF17; 1.
DR InterPro; IPR015337; BCMA_Tall-1-bd.
DR InterPro; IPR043521; TNFR_13C/17.
DR InterPro; IPR022320; TNFR_17.
DR PANTHER; PTHR20437; PTHR20437; 1.
DR Pfam; PF09257; BCMA-Tall_bind; 1.
DR PIRSF; PIRSF011859; BCMA_Tall-1_bd; 1.
DR PRINTS; PR01967; TNFACTORR17.
PE 1: Evidence at protein level;
KW 3D-structure; Adaptive immunity; Alternative splicing; Cell membrane;
KW Chromosomal rearrangement; Disulfide bond; Immunity; Membrane;
KW Proto-oncogene; Receptor; Reference proteome; Signal-anchor; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..184
FT /note="Tumor necrosis factor receptor superfamily member
FT 17"
FT /id="PRO_0000058935"
FT TOPO_DOM 1..54
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 55..77
FT /note="Helical; Signal-anchor for type III membrane
FT protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 78..184
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REPEAT 7..41
FT /note="TNFR-Cys"
FT SITE 3..4
FT /note="Breakpoint for translocation to form IL2/TNFRSF17
FT oncogene"
FT DISULFID 8..21
FT /evidence="ECO:0000269|PubMed:12721620,
FT ECO:0000269|PubMed:15542592"
FT DISULFID 24..37
FT /evidence="ECO:0000269|PubMed:12721620,
FT ECO:0000269|PubMed:15542592"
FT DISULFID 28..41
FT /evidence="ECO:0000269|PubMed:12721620,
FT ECO:0000269|PubMed:15542592"
FT VAR_SEQ 44..93
FT /note="SVTNSVKGTNAILWTCLGLSLIISLAVFVLMFLLRKINSEPLKDEFKNTG
FT -> R (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17825416, ECO:0000303|Ref.5"
FT /id="VSP_047678"
FT VARIANT 54
FT /note="A -> V (in dbSNP:rs11570146)"
FT /evidence="ECO:0000269|Ref.6"
FT /id="VAR_018755"
FT VARIANT 65
FT /note="I -> V (in dbSNP:rs11570147)"
FT /evidence="ECO:0000269|Ref.6"
FT /id="VAR_018756"
FT VARIANT 75
FT /note="F -> V (in dbSNP:rs11570148)"
FT /evidence="ECO:0000269|Ref.6"
FT /id="VAR_018757"
FT VARIANT 81
FT /note="N -> S (in dbSNP:rs373496)"
FT /evidence="ECO:0000269|PubMed:10493829,
FT ECO:0000269|PubMed:11528522, ECO:0000269|PubMed:1396583,
FT ECO:0000269|PubMed:8165126, ECO:0000269|Ref.6"
FT /id="VAR_018758"
FT VARIANT 153
FT /note="A -> T (in dbSNP:rs150352299)"
FT /evidence="ECO:0000269|PubMed:11528522"
FT /id="VAR_012234"
FT VARIANT 165
FT /note="C -> S (in dbSNP:rs11570159)"
FT /evidence="ECO:0000269|Ref.6"
FT /id="VAR_018759"
FT VARIANT 176
FT /note="E -> D (in dbSNP:rs34546237)"
FT /id="VAR_061855"
FT STRAND 12..15
FT /evidence="ECO:0007829|PDB:4ZFO"
FT TURN 16..19
FT /evidence="ECO:0007829|PDB:4ZFO"
FT STRAND 20..23
FT /evidence="ECO:0007829|PDB:4ZFO"
FT HELIX 24..27
FT /evidence="ECO:0007829|PDB:4ZFO"
FT STRAND 30..32
FT /evidence="ECO:0007829|PDB:4ZFO"
FT HELIX 35..37
FT /evidence="ECO:0007829|PDB:4ZFO"
FT TURN 38..40
FT /evidence="ECO:0007829|PDB:4ZFO"
FT TURN 42..44
FT /evidence="ECO:0007829|PDB:2KN1"
SQ SEQUENCE 184 AA; 20165 MW; B6D87B3685F66022 CRC64;
MLQMAGQCSQ NEYFDSLLHA CIPCQLRCSS NTPPLTCQRY CNASVTNSVK GTNAILWTCL
GLSLIISLAV FVLMFLLRKI NSEPLKDEFK NTGSGLLGMA NIDLEKSRTG DEIILPRGLE
YTVEECTCED CIKSKPKVDS DHCFPLPAME EGATILVTTK TNDYCKSLPA ALSATEIEKS
ISAR
