Aliases for CUBN Gene
External Ids for CUBN Gene
Previous HGNC Symbols for CUBN Gene
Previous GeneCards Identifiers for CUBN Gene
Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]
GeneCards Summary for CUBN Gene
CUBN (Cubilin (Intrinsic Factor-Cobalamin Receptor)) is a Protein Coding gene. Diseases associated with CUBN include megaloblastic anemia-1, finnish type and 3-methylglutaconic aciduria, type i. Among its related pathways are Infectious disease and Metabolism. GO annotations related to this gene include calcium ion binding and receptor activity. An important paralog of this gene is TLL1.
UniProtKB/Swiss-Prot for CUBN Gene
Cotransporter which plays a role in lipoprotein, vitamin and iron metabolism, by facilitating their uptake. Binds to ALB, MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1, APOA1, high density lipoprotein, and the GIF-cobalamin complex. The binding of all ligands requires calcium. Serves as important transporter in several absorptive epithelia, including intestine, renal proximal tubules and embryonic yolk sac. Interaction with LRP2 mediates its trafficking throughout vesicles and facilitates the uptake of specific ligands like GC, hemoglobin, ALB, TF and SCGB1A1. Interaction with AMN controls its trafficking to the plasma membrane and facilitates endocytosis of ligands. May play an important role in the development of the peri-implantation embryo through internalization of APOA1 and cholesterol. Binds to LGALS3 at the maternal-fetal interface.