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Protein Page:
CUBN (human)

CUBN 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. Defects in CUBN are a cause of recessive hereditary megaloblastic anemia 1 (RH-MGA1); also known as MGA1 Norwegian type or Imerslund-Grasbeck syndrome (I-GS). RH-MGA1 is due to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected. Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: 10p12.31
Cellular Component: apical plasma membrane; cytosol; endocytic vesicle; endosome membrane; lysosomal lumen; membrane; plasma membrane
Molecular Function: protein binding; protein homodimerization activity; transporter activity
Biological Process: cobalamin metabolic process; cobalamin transport; lipoprotein metabolic process; vitamin D metabolic process
Disease: Megaloblastic Anemia 1
Reference #:  O60494 (UniProtKB)
Alt. Names/Synonyms: 460 kDa receptor; Cubilin; cubilin (intrinsic factor-cobalamin receptor); CUBN; FLJ90055; FLJ90747; gp280; IFCR; Intestinal intrinsic factor receptor; intrinsic factor B12-receptor; Intrinsic factor-cobalamin receptor; Intrinsic factor-vitamin B12 receptor; MGA1
Gene Symbols: CUBN
Molecular weight: 398,736 Da
Basal Isoelectric point: 5.14  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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