MGP Database

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MGP005155

UniProt Annotations

Entry Information
Gene NameCD320 molecule
Protein EntryCD320_HUMAN
UniProt IDQ9NPF0
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NPF0-1; Sequence=Displayed; Name=2; IsoId=Q9NPF0-2; Sequence=VSP_045368; Note=No experimental confirmation available.;
DiseaseMethylmalonic aciduria type TCblR (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. Plasma vitamin B12 and total homocysteine are normal. {ECO:0000269|PubMed:20524213}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionGerminal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC). CD320 augments the proliferation of PC precursors generated by IL-10. Receptor for the cellular uptake of transcobalamin bound cobalamin. {ECO:0000269|PubMed:11418631, ECO:0000269|PubMed:18779389}.
SimilarityContains 2 LDL-receptor class A domains. {ECO:0000255|PROSITE-ProRule:PRU00124}.
Subcellular LocationMembrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
Tissue SpecificityExpressed abundantly on follicular dendritic cells (FDCs). {ECO:0000269|PubMed:10727470}.
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