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Protein

Tumor necrosis factor receptor superfamily member 13C

Gene

TNFRSF13C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the B-cell response.2 Publications

GO - Biological processi

Keywordsi

Molecular functionReceptor
Biological processAdaptive immunity, Immunity

Enzyme and pathway databases

ReactomeiR-HSA-5668541 TNFR2 non-canonical NF-kB pathway
R-HSA-5676594 TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
SIGNORiQ96RJ3

Names & Taxonomyi

Protein namesi
Recommended name:
Tumor necrosis factor receptor superfamily member 13C
Alternative name(s):
B-cell-activating factor receptor
BAFF receptor
Short name:
BAFF-R
BLyS receptor 3
CD_antigen: CD268
Gene namesi
Name:TNFRSF13C
Synonyms:BAFFR, BR3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000159958.4
HGNCiHGNC:17755 TNFRSF13C
MIMi606269 gene
neXtProtiNX_Q96RJ3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 78ExtracellularSequence analysisAdd BLAST78
Transmembranei79 – 99Helical; Signal-anchor for type III membrane proteinSequence analysisAdd BLAST21
Topological domaini100 – 184CytoplasmicSequence analysisAdd BLAST85

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Immunodeficiency, common variable, 4 (CVID4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low.
See also OMIM:613494
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06388989 – 96Missing in CVID4; fails to bind TNFSF13B and fails to induce downstream NF-kappa-B processing. 1 Publication8

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi24C → Y: Abolishes a disulfide bond and thereby changes the specificity, so that both TNFSF13B and TNFSF13 can be bound. 1 Publication1
Mutagenesisi26D → A: Strongly reduced affinity for TNFSF13B. 1 Publication1
Mutagenesisi28L → A: Strongly reduced affinity for TNFSF13B. 1 Publication1
Mutagenesisi35C → S: Abolishes a disulfide bond and thereby changes the specificity, so that both TNFSF13B and TNFSF13 can be bound. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi115650
GeneReviewsiTNFRSF13C
MalaCardsiTNFRSF13C
MIMi613494 phenotype
OpenTargetsiENSG00000159958
Orphaneti1572 Common variable immunodeficiency
PharmGKBiPA38466

Polymorphism and mutation databases

BioMutaiTNFRSF13C
DMDMi21264093

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000589331 – 184Tumor necrosis factor receptor superfamily member 13CAdd BLAST184

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi19 ↔ 32
Disulfide bondi24 ↔ 35

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ96RJ3
PeptideAtlasiQ96RJ3
PRIDEiQ96RJ3
ProteomicsDBi77970
77971 [Q96RJ3-2]

PTM databases

iPTMnetiQ96RJ3
PhosphoSitePlusiQ96RJ3

Expressioni

Tissue specificityi

Highly expressed in spleen and lymph node, and in resting B-cells. Detected at lower levels in activated B-cells, resting CD4+ T-cells, in thymus and peripheral blood leukocytes.

Gene expression databases

BgeeiENSG00000159958 Expressed in 142 organ(s), highest expression level in tonsil
CleanExiHS_TNFRSF13C
ExpressionAtlasiQ96RJ3 baseline and differential
GenevisibleiQ96RJ3 HS

Organism-specific databases

HPAiCAB008380
HPA003246

Interactioni

Protein-protein interaction databases

BioGridi125443, 5 interactors
STRINGi9606.ENSP00000291232

Structurei

Secondary structure

1184
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ96RJ3
SMRiQ96RJ3
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96RJ3

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati18 – 35TNFR-Cys; truncatedAdd BLAST18

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni26 – 31Essential for TNFSF13B/TALL1/BAFF/BLyS binding6

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410JCDG Eukaryota
ENOG41114DK LUCA
GeneTreeiENSGT00390000015844
HOGENOMiHOG000132919
HOVERGENiHBG055867
InParanoidiQ96RJ3
KOiK05151
OMAiAQCFDPL
OrthoDBiEOG091G0OY6
PhylomeDBiQ96RJ3
TreeFamiTF336877

Family and domain databases

InterProiView protein in InterPro
IPR022338 TNFR_13C
IPR015336 TNFR_13C_TALL-1-bd
PANTHERiPTHR20437:SF2 PTHR20437:SF2, 1 hit
PfamiView protein in Pfam
PF09256 BaffR-Tall_bind, 1 hit
PRINTSiPR01964 TNFACTORR13C

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q96RJ3-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MRRGPRSLRG RDAPAPTPCV PAECFDLLVR HCVACGLLRT PRPKPAGASS
60 70 80 90 100
PAPRTALQPQ ESVGAGAGEA ALPLPGLLFG APALLGLALV LALVLVGLVS
110 120 130 140 150
WRRRQRRLRG ASSAEAPDGD KDAPEPLDKV IILSPGISDA TAPAWPPPGE
160 170 180
DPGTTPPGHS VPVPATELGS TELVTTKTAG PEQQ
Length:184
Mass (Da):18,864
Last modified:December 1, 2001 - v1
Checksum:iF2BFB98099A27138
GO
Isoform 2 (identifier: Q96RJ3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     143-143: P → PA

Note: No experimental confirmation available.
Show »
Length:185
Mass (Da):18,935
Checksum:i2E64C16E672A6C64
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06388864G → V1 PublicationCorresponds to variant dbSNP:rs547352394EnsemblClinVar.1
Natural variantiVAR_06388989 – 96Missing in CVID4; fails to bind TNFSF13B and fails to induce downstream NF-kappa-B processing. 1 Publication8
Natural variantiVAR_063890159H → Y1 PublicationCorresponds to variant dbSNP:rs61756766EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_006505143P → PA in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF373846 mRNA Translation: AAK91826.1
Z99716 Genomic DNA No translation available.
CCDSiCCDS14024.1 [Q96RJ3-1]
RefSeqiNP_443177.1, NM_052945.3 [Q96RJ3-1]
UniGeneiHs.344088

Genome annotation databases

EnsembliENST00000291232; ENSP00000291232; ENSG00000159958 [Q96RJ3-1]
GeneIDi115650
KEGGihsa:115650
UCSCiuc003bbl.3 human [Q96RJ3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF373846 mRNA Translation: AAK91826.1
Z99716 Genomic DNA No translation available.
CCDSiCCDS14024.1 [Q96RJ3-1]
RefSeqiNP_443177.1, NM_052945.3 [Q96RJ3-1]
UniGeneiHs.344088

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1MPVNMR-A26-31[»]
1OQEX-ray2.50K/L/M/N/O/P/Q/R16-46[»]
1OSXNMR-A1-61[»]
2HFGX-ray2.61R7-54[»]
3V56X-ray3.00G/H/I/J/K/L/Z23-35[»]
4V46X-ray3.30B0/B1/B2/B3/B4/B5/B6/B7/B8/B9/BA/BB/BC/BD/BE/BF/BG/BH/BI/BJ/BK/BL/BM/BN/BO/BP/BQ/BR/BS/BT/BU/BV/BW/BX/BY/BZ/Ba/Bb/Bc/Bd/Be/Bf/Bg/Bh/Bi/Bj/Bk/Bl/Bm/Bn/Bo/Bp/Bq/Br/Bs/Bt/Bu/Bv/Bw/Bx1-63[»]
ProteinModelPortaliQ96RJ3
SMRiQ96RJ3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125443, 5 interactors
STRINGi9606.ENSP00000291232

PTM databases

iPTMnetiQ96RJ3
PhosphoSitePlusiQ96RJ3

Polymorphism and mutation databases

BioMutaiTNFRSF13C
DMDMi21264093

Proteomic databases

PaxDbiQ96RJ3
PeptideAtlasiQ96RJ3
PRIDEiQ96RJ3
ProteomicsDBi77970
77971 [Q96RJ3-2]

Protocols and materials databases

DNASUi115650
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000291232; ENSP00000291232; ENSG00000159958 [Q96RJ3-1]
GeneIDi115650
KEGGihsa:115650
UCSCiuc003bbl.3 human [Q96RJ3-1]

Organism-specific databases

CTDi115650
DisGeNETi115650
EuPathDBiHostDB:ENSG00000159958.4
GeneCardsiTNFRSF13C
GeneReviewsiTNFRSF13C
HGNCiHGNC:17755 TNFRSF13C
HPAiCAB008380
HPA003246
MalaCardsiTNFRSF13C
MIMi606269 gene
613494 phenotype
neXtProtiNX_Q96RJ3
OpenTargetsiENSG00000159958
Orphaneti1572 Common variable immunodeficiency
PharmGKBiPA38466
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JCDG Eukaryota
ENOG41114DK LUCA
GeneTreeiENSGT00390000015844
HOGENOMiHOG000132919
HOVERGENiHBG055867
InParanoidiQ96RJ3
KOiK05151
OMAiAQCFDPL
OrthoDBiEOG091G0OY6
PhylomeDBiQ96RJ3
TreeFamiTF336877

Enzyme and pathway databases

ReactomeiR-HSA-5668541 TNFR2 non-canonical NF-kB pathway
R-HSA-5676594 TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
SIGNORiQ96RJ3

Miscellaneous databases

ChiTaRSiTNFRSF13C human
EvolutionaryTraceiQ96RJ3
GeneWikiiTNFRSF13C
GenomeRNAii115650
PROiPR:Q96RJ3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159958 Expressed in 142 organ(s), highest expression level in tonsil
CleanExiHS_TNFRSF13C
ExpressionAtlasiQ96RJ3 baseline and differential
GenevisibleiQ96RJ3 HS

Family and domain databases

InterProiView protein in InterPro
IPR022338 TNFR_13C
IPR015336 TNFR_13C_TALL-1-bd
PANTHERiPTHR20437:SF2 PTHR20437:SF2, 1 hit
PfamiView protein in Pfam
PF09256 BaffR-Tall_bind, 1 hit
PRINTSiPR01964 TNFACTORR13C
ProtoNetiSearch...

Entry informationi

Entry nameiTR13C_HUMAN
AccessioniPrimary (citable) accession number: Q96RJ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: December 1, 2001
Last modified: November 7, 2018
This is version 142 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
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Main funding by: National Institutes of Health

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