Reviewed, UniProtKB/Swiss-Prot Q02223 (TNR17_HUMAN)

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

Name:	TNFRSF17
Synonyms:	BCM, BCMA

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 response Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Ref.2 Traceable author statement. Source: ProtInc signal transduction Ref.10 Traceable author statement. Source: ProtInc
Cellular component	integral to membrane Ref.1 Traceable author statement. Source: ProtInc plasma membrane Ref.10 Traceable author statement. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
TNFSF13B	Q9Y275	1	EBI-519945,EBI-519169

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

1

.

.

.

.

.

.

.

.

.

.

.

184

Helix Strand Turn

Details...

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

	Sequence		Length	Mass (Da)
	Q02223-1 [UniParc]. Last modified July 1, 1993. Version 1. Checksum: 277AF11E2767D932	FASTA	184	20,138
	10 20 30 40 50 60 MLQMAGQCSQ NEYFDSLLHA CIPCQLRCSS NTPPLTCQRY CNASVTNSVK GTNAILWTCL 70 80 90 100 110 120 GLSLIISLAV FVLMFLLRKI SSEPLKDEFK NTGSGLLGMA NIDLEKSRTG DEIILPRGLE 130 140 150 160 170 180 YTVEECTCED CIKSKPKVDS DHCFPLPAME EGATILVTTK TNDYCKSLPA ALSATEIEKS ISAR

References

	« Hide 'large scale' referencesShow '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. , 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: 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.

Web resources

NIEHS-SNPs

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

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1OQD	X-ray	2.60	K/L/M/N/O/P/Q/R	8-46	[»]
1XU2	X-ray	2.35	R/S/T	5-51	[»]

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

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	July 1, 1993
Last modified:	February 9, 2010
This is version 108 of the entry and version 1 of the sequence. [Complete 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.