TNFRSF13C
entrez
115650
canonical
uniprot
Q96RJ3
canonical
ensembl
ENSG00000159958
resolver
ensp
ENSP00000291232
resolver
genesymbol
TNFRSF13C
resolver
genesymbol_syn
BAFFR
resolver
genesymbol_syn
BR3
resolver
hgnc
HGNC:17755
resolver
uniprot
Q5H8V1
resolver
uniprot_entry
Q5H8V1_HUMAN
resolver
uniprot_entry
TR13C_HUMAN
resolver
amino_acid_sequence
MRRGPRSLRGRDAPAPTPCVPAECFDLLVRHCVACGLLRTPRPKPAGASSPAPRTALQPQESVGAGAGEAALPLPGLLFGAPALLGLALVLALVLVGLVSWRRRQRRLRGASSAEAPDGDKDAPEPLDKVIILSPGISDATAPAWPPPGEDPGTTPPGHSVPVPATELGSTELVTTKTAGPEQQ
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency, common variable, 4 (CVID4) [MIM:613494]: A 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. {ECO:0000269|PubMed:19666484}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the B-cell response. {ECO:0000269|PubMed:11591325, ECO:0000269|PubMed:12387744}.
uniprot
proteins
mass_dalton
18864
uniprot
proteins
mutagenesis
MUTAGEN 24; /note="C->Y: Abolishes a disulfide bond and thereby changes the specificity, so that both TNFSF13B and TNFSF13 can be bound."; /evidence="ECO:0000269|PubMed:12721620"; MUTAGEN 26; /note="D->A: Strongly reduced affinity for TNFSF13B."; /evidence="ECO:0000269|PubMed:12755599"; MUTAGEN 28; /note="L->A: Strongly reduced affinity for TNFSF13B."; /evidence="ECO:0000269|PubMed:12755599"; MUTAGEN 35; /note="C->S: Abolishes a disulfide bond and thereby changes the specificity, so that both TNFSF13B and TNFSF13 can be bound."; /evidence="ECO:0000269|PubMed:12721620
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
11509692
uniprot
proteins
pubmed
11591325
uniprot
proteins
pubmed
12387744
uniprot
proteins
pubmed
12715002
uniprot
proteins
pubmed
12721620
uniprot
proteins
pubmed
12755599
uniprot
proteins
pubmed
16160919
uniprot
proteins
pubmed
16840730
uniprot
proteins
pubmed
19666484
uniprot
proteins
sequence_length
184
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type III membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 79..99; /note="Helical; Signal-anchor for type III membrane protein"; /evidence="ECO:0000255
uniprot
proteins