CD320
entrez
51293
canonical
uniprot
Q9NPF0
canonical
ensembl
ENSG00000167775
resolver
ensp
ENSP00000301458
resolver
ensp
ENSP00000437697
resolver
genesymbol
CD320
resolver
genesymbol_syn
8D6A
resolver
hgnc
HGNC:16692
resolver
uniprot
B2RDS5
resolver
uniprot
D6W668
resolver
uniprot
F5H6D3
resolver
uniprot
Q53HF7
resolver
uniprot_entry
CD320_HUMAN
resolver
uniprot_sec
B2RDS5
resolver
uniprot_sec
D6W668
resolver
uniprot_sec
F5H6D3
resolver
uniprot_sec
Q53HF7
resolver
amino_acid_sequence
MSGGWMAQVGAWRTGALGLALLLLLGLGLGLEAAASPLSTPTSAQAAGPSSGSCPPTKFQCRTSGLCVPLTWRCDRDLDCSDGSDEEECRIEPCTQKGQCPPPPGLPCPCTGVSDCSGGTDKKLRNCSRLACLAGELRCTLSDDCIPLTWRCDGHPDCPDSSDELGCGTNEILPEGDATTMGPPVTLESVTSLRNATTMGPPVTLESVPSVGNATSSSAGDQSGSPTAYGVIAAAAVLSASLVTATLLLLSWLRAQERLRPLGLLVAMKESLLLSEQKTSLP
uniprot
proteins
disease_involvement
DISEASE: Methylmalonic aciduria, transient, due to transcobalamin receptor defect (MATR) [MIM:613646]: An autosomal recessive metabolic condition characterized by moderate methymalonicaciduria, and normal plasma vitamin B12 levels. Serum homocysteine may be increased in some affected individuals. Most cases are clinically asymptomatic. {ECO:0000269|PubMed:20524213, ECO:0000269|PubMed:22819238, ECO:0000269|PubMed:27411955, ECO:0000269|PubMed:27535533, ECO:0000269|PubMed:34978764, ECO:0000269|PubMed:35107211}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Receptor for transcobalamin saturated with cobalamin (TCbl) (PubMed:18779389). Plays an important role in cobalamin uptake (PubMed:18779389, PubMed:20524213). Plasma membrane protein that is expressed on follicular dendritic cells (FDC) and mediates interaction with germinal center B cells (PubMed:10727470). Functions as costimulator to promote B cell responses to antigenic stimuli; promotes B cell differentiation and proliferation (PubMed:10727470, PubMed:11418631). Germinal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC) (PubMed:11418631). CD320 augments the proliferation of PC precursors generated by IL-10 (PubMed:11418631). {ECO:0000269|PubMed:10727470, ECO:0000269|PubMed:11418631, ECO:0000269|PubMed:18779389, ECO:0000269|PubMed:20524213}.
uniprot
proteins
mass_dalton
28991
uniprot
proteins
pubmed
10727470
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
11418631
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18779389
uniprot
proteins
pubmed
20524213
uniprot
proteins
pubmed
22819238
uniprot
proteins
pubmed
27411955
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
34978764
uniprot
proteins
pubmed
35107211
uniprot
proteins
sequence_length
282
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10727470, ECO:0000269|PubMed:11418631, ECO:0000305|PubMed:18779389}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 230..250; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins