TCN1

Gene Name		transcobalamin I (vitamin B12 binding protein, R binder family)
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Gene Ontology Annotations	Cellular Component	Extracellular Region Extracellular Space
	Molecular Function	Cobalamin Binding
	Biological Process	Vitamin Metabolic Process Water-soluble Vitamin Metabolic Process Cobalt Ion Transport Cobalamin Metabolic Process Cobalamin Transport Small Molecule Metabolic Process
Pathways		Metabolism of vitamins and cofactors Defective GIF causes intrinsic factor deficiency Defective CD320 causes methylmalonic aciduria Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Defective HLCS causes multiple carboxylase deficiency Defective MMAB causes methylmalonic aciduria type cblB Defective BTD causes biotidinase deficiency Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Defective MMAA causes methylmalonic aciduria type cblA Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Defective CUBN causes hereditary megaloblastic anemia 1 Cobalamin (Cbl, vitamin B12) transport and metabolism Defective AMN causes hereditary megaloblastic anemia 1 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 Defects in cobalamin (B12) metabolism Defects in vitamin and cofactor metabolism
Drugs		Hydroxocobalamin
Diseases
GWAS		Folate pathway vitamin levels ( 19303062 19744961)
Protein-protein Interactions		1 interactors: CBL
Entrez ID		6947
HPRD ID		01795
Ensembl ID		ENSG00000134827
Uniprot IDs		P20061
PDB IDs		2CKV 4KKI 4KKJ
Enriched GO Terms of Interacting Partners?		Positive Regulation Of Receptor-mediated Endocytosis Negative Regulation Of Epidermal Growth Factor Receptor Signaling Pathway Negative Regulation Of ERBB Signaling Pathway Positive Regulation Of Phosphatidylinositol 3-kinase Signaling Regulation Of Epidermal Growth Factor Receptor Signaling Pathway Regulation Of ERBB Signaling Pathway Regulation Of Phosphatidylinositol 3-kinase Signaling Positive Regulation Of Endocytosis Transforming Growth Factor Beta Receptor Signaling Pathway Epidermal Growth Factor Receptor Signaling Pathway Fibroblast Growth Factor Receptor Signaling Pathway ERBB Signaling Pathway Cellular Response To Transforming Growth Factor Beta Stimulus Regulation Of Endocytosis Cellular Response To Fibroblast Growth Factor Stimulus Response To Transforming Growth Factor Beta Response To Fibroblast Growth Factor Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway
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