功能： disease:Defects in CUBN are a cause of recessive hereditary megaloblastic anemia 1 (MGA1) [MIM:261100]; also referred to as MGA1 Norwegian type or Imerslund-Grasbeck syndrome (I-GS). 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.,domain:The CUB domains 5 to 8 mediate binding to GIF and ALB. CUB domains 1 and 2 mediate interaction with LRP2.,function: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 required 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.,PTM:N-glycosylated.,PTM:The precursor is cleaved by a trans-Golgi proteinase furin. The result is a propeptide cleaved off.,similarity:Contains 27 CUB domains.,similarity:Contains 7 EGF-like domains.,subcellular location:Colocalizes with AMN and LRP2 in the endocytotic apparatus of epithelial cells.,subunit:Interacts with LRP2 in a dual-receptor complex in a calcium-dependent manner. Component of the cubam complex composed of CUBN and AMN. Found in a complex with PID1/PCLI1, LRP1 and CUBNI. Interacts with LRP1 and PID1/PCLI1.,tissue specificity:Expressed in kidney proximal tubule cells, placenta, visceral yolk-sac cells and in absorptive intestinal cells. Expressed in the epithelium of intestine and kidney.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Apical cell membrane ; Peripheral membrane protein . Cell membrane ; Peripheral membrane protein . Membrane, coated pit . Endosome . Lysosome membrane ; Peripheral membrane protein . Lacks a transmembrane domain and depends on interaction with AMN for location at the plasma membrane (PubMed:29402915, PubMed:30523278). Colocalizes with AMN and LRP2 in the endocytotic apparatus of epithelial cells (By similarity). .
组织表达： Detected in kidney cortex (at protein level) (PubMed:9572993). Expressed in kidney proximal tubule cells, placenta, visceral yolk-sac cells and in absorptive intestinal cells. Expressed in the epithelium of intestine and kidney.
功能： disease:Defects in CUBN are a cause of recessive hereditary megaloblastic anemia 1 (MGA1) [MIM:261100]; also referred to as MGA1 Norwegian type or Imerslund-Grasbeck syndrome (I-GS). 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.,domain:The CUB domains 5 to 8 mediate binding to GIF and ALB. CUB domains 1 and 2 mediate interaction with LRP2.,function: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 required 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.,PTM:N-glycosylated.,PTM:The precursor is cleaved by a trans-Golgi proteinase furin. The result is a propeptide cleaved off.,similarity:Contains 27 CUB domains.,similarity:Contains 7 EGF-like domains.,subcellular location:Colocalizes with AMN and LRP2 in the endocytotic apparatus of epithelial cells.,subunit:Interacts with LRP2 in a dual-receptor complex in a calcium-dependent manner. Component of the cubam complex composed of CUBN and AMN. Found in a complex with PID1/PCLI1, LRP1 and CUBNI. Interacts with LRP1 and PID1/PCLI1.,tissue specificity:Expressed in kidney proximal tubule cells, placenta, visceral yolk-sac cells and in absorptive intestinal cells. Expressed in the epithelium of intestine and kidney.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Apical cell membrane ; Peripheral membrane protein . Cell membrane ; Peripheral membrane protein . Membrane, coated pit . Endosome . Lysosome membrane ; Peripheral membrane protein . Lacks a transmembrane domain and depends on interaction with AMN for location at the plasma membrane (PubMed:29402915, PubMed:30523278). Colocalizes with AMN and LRP2 in the endocytotic apparatus of epithelial cells (By similarity). .
组织表达： Detected in kidney cortex (at protein level) (PubMed:9572993). Expressed in kidney proximal tubule cells, placenta, visceral yolk-sac cells and in absorptive intestinal cells. Expressed in the epithelium of intestine and kidney.
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