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Q9NPF0 Proteins LDL-receptor class A domain Repeats
Uniprot ID:Q9NPF0
Protein name: CD320 antigen
Gene : CD320 8D6A UNQ198/PRO224
Protein Family:
Squence Length : 282
Sequnce
>Q9NPF0 283 MSGGWMAQVGAWRTGALGLALLLLLGLGLGLEAAASPLSTPTSAQAAGPSSGSCPPTKFQCRTSGLCVPLTWRCDRDLDCSDGSDEEECRIEPCTQKGQCPPPPGLPCPCTGVSDCSGGTDKKLRNCSRLACLAGELRCTLSDDCIPLTWRCDGHPDCPDSSDELGCGTNEILPEGDATTMGPPVTLESVTSLRNATTMGPPVTLESVPSVGNATSSSAGDQSGSPTAYGVIAAAAVLSASLVTATLLLLSWLRAQERLRPLGLLVAMKESLLLSEQKTSLP
Domains
DOMAIN 53 90 LDL-receptor class A 1 DOMAIN 131 168 LDL-receptor class A 2
LDL-receptor class A sequence regions
53 - 90 PPTKFQCRTSGLCVPLTWRCDRDLDCSDGSDEEECRIE 131 - 168 LAGELRCTLSDDCIPLTWRCDGHPDCPDSSDELGCGTN
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)"
Disease
"DISEASE: Methylmalonic aciduria, transient, due to transcobalamin receptor defect (MMATC) [MIM:613646]: A metabolic disorder characterized by increased blood C3-acylcarnitine levels, elevated methylmalonate and homocysteine, and low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin Note=The disease may be caused by mutations affecting the gene represented in this entry"