CUBN

Gene Name		cubilin (intrinsic factor-cobalamin receptor)
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Gene Ontology Annotations	Cellular Component	Lysosomal Membrane Endoplasmic Reticulum Golgi Apparatus Cytosol Plasma Membrane Coated Pit Endosome Membrane Membrane Apical Plasma Membrane Endocytic Vesicle Extrinsic Component Of External Side Of Plasma Membrane Brush Border Membrane Lysosomal Lumen Extracellular Vesicular Exosome
	Molecular Function	Receptor Activity Transporter Activity Calcium Ion Binding Protein Binding Cobalamin Binding Protein Homodimerization Activity
	Biological Process	Tissue Homeostasis Vitamin Metabolic Process Water-soluble Vitamin Metabolic Process Receptor-mediated Endocytosis Steroid Metabolic Process Cholesterol Metabolic Process Cobalamin Metabolic Process Cobalamin Transport Lipoprotein Metabolic Process Vitamin D Metabolic Process Lipoprotein Transport Small Molecule Metabolic Process
Pathways		Lipoprotein metabolism Metabolism of vitamins and cofactors Defective CD320 causes methylmalonic aciduria Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Metabolism of lipids and lipoproteins Defective BTD causes biotidinase deficiency Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Defective AMN causes hereditary megaloblastic anemia 1 Defects in cobalamin (B12) metabolism Defective GIF causes intrinsic factor deficiency Defective HLCS causes multiple carboxylase deficiency Defective MMAB causes methylmalonic aciduria type cblB Lipid digestion, mobilization, and transport Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Metabolism of steroid hormones and vitamin D Defective MMAA causes methylmalonic aciduria type cblA Defective CUBN causes hereditary megaloblastic anemia 1 Cobalamin (Cbl, vitamin B12) transport and metabolism HDL-mediated lipid transport Defective MUT causes methylmalonic aciduria mut type Metabolism of water-soluble vitamins and cofactors Defects in biotin (Btn) metabolism Defective TCN2 causes hereditary megaloblastic anemia Vitamin D (calciferol) metabolism Defects in vitamin and cofactor metabolism
Drugs		Hydroxocobalamin
Diseases
GWAS		Folate pathway vitamin levels ( 19303062 19744961) MRI atrophy measures ( 21116278) Quantitative traits ( 19197348) Urinary albumin excretion ( 21355061)
Protein-protein Interactions		9 interactors: ALB BRCA1 CBL GC GIF LGALS3 LRP2 SCGB1A1 TF
Entrez ID		8029
HPRD ID		04296
Ensembl ID		ENSG00000107611
Uniprot IDs		O60494
PDB IDs		3KQ4
Enriched GO Terms of Interacting Partners?		Vitamin Metabolic Process Vitamin D Metabolic Process Steroid Metabolic Process Vitamin Transport Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors Retina Homeostasis Negative Regulation Of Apoptotic Process Negative Regulation Of Programmed Cell Death Negative Regulation Of Cell Death Platelet Degranulation Positive Regulation Of Histone H4-K20 Methylation Negative Regulation Of Immunological Synapse Formation Positive Regulation Of Histone H4-K16 Acetylation Blood Coagulation Hemostasis Negative Regulation Of Signal Transduction Response To Stress Negative Regulation Of T Cell Activation Response To Steroid Hormone Negative Regulation Of Signaling Negative Regulation Of Leukocyte Cell-cell Adhesion Cellular Response To Tumor Necrosis Factor Negative Regulation Of Homotypic Cell-cell Adhesion Positive Regulation Of Histone H3-K9 Acetylation Glucosylceramide Catabolic Process Maintenance Of Mitochondrion Location Negative Regulation Of T Cell Activation Via T Cell Receptor Contact With Antigen Bound To MHC Molecule On Antigen Presenting Cell Small Molecule Metabolic Process Lipid Metabolic Process Regulation Of Cytokine Production Response To Tumor Necrosis Factor Regulation Of Body Fluid Levels Negative Regulation Of Extrinsic Apoptotic Signaling Pathway Response To Platinum Ion Hemolysis By Symbiont Of Host Erythrocytes Positive Regulation Of Circadian Sleep/wake Cycle, Non-REM Sleep Positive Regulation Of Histone H4 Acetylation Negative Regulation Of Histone H3-K4 Methylation Positive Regulation Of Mononuclear Cell Migration Response To Silicon Dioxide Negative Regulation Of Lymphocyte Activation Negative Regulation Of Cell-cell Adhesion Response To Organic Substance Wound Healing Response To Stimulus Regulation Of T Cell Proliferation Regulation Of Apoptotic Process Mononuclear Cell Migration Response To Glucocorticoid Negative Regulation Of Leukocyte Activation
Tagcloud ?		accordingly advocate amn amnionless b12 coexpressed coreceptor correct critically cubilin endocytosis extremely glomerular ileum interdependency internalization lacks localize lrp2 malabsorption megalin mutually proteinuria suffer surprisingly transmembrane tubules ultrafiltrate vitamin