PANK1

Gene Name		pantothenate kinase 1
Image
Gene Ontology Annotations	Cellular Component	Nucleus Cytosol Clathrin Coat Recycling Endosome Cell Periphery
	Molecular Function	Pantothenate Kinase Activity ATP Binding
	Biological Process	Vitamin Metabolic Process Water-soluble Vitamin Metabolic Process Coenzyme Biosynthetic Process Coenzyme A Biosynthetic Process Pantothenate Metabolic Process Phosphorylation Small Molecule Metabolic Process
Pathways		Metabolism of vitamins and cofactors Defective CD320 causes methylmalonic aciduria Defective GIF causes intrinsic factor deficiency Vitamin B5 (pantothenate) metabolism 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 MMADHC causes methylmalonic aciduria and homocystinuria type cblD Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Defective MMAA causes methylmalonic aciduria type cblA Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Defective CUBN causes hereditary megaloblastic anemia 1 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 Coenzyme A biosynthesis Defective TCN2 causes hereditary megaloblastic anemia Defects in cobalamin (B12) metabolism Defects in vitamin and cofactor metabolism
Drugs
Diseases
GWAS		Metabolic traits ( 19060910)
Protein-protein Interactions		1 interactors: YWHAQ
Entrez ID		53354
HPRD ID		07549
Ensembl ID		ENSG00000152782
Uniprot IDs		Q8TE04
PDB IDs		2I7N 3SMP
Enriched GO Terms of Interacting Partners?		Positive Regulation Of Protein Insertion Into Mitochondrial Membrane Involved In Apoptotic Signaling Pathway Positive Regulation Of Mitochondrial Outer Membrane Permeabilization Involved In Apoptotic Signaling Pathway Regulation Of Mitochondrial Outer Membrane Permeabilization Involved In Apoptotic Signaling Pathway Substantia Nigra Development Neural Nucleus Development Positive Regulation Of Mitochondrion Organization Midbrain Development Regulation Of Mitochondrion Organization
Tagcloud ?		arrest canonical catalyzes chip coa controlling critically defect depletion exhibit gluconeogenesis hct116 homeostasis insufficient interestingly knockout limiting maintain metabolic null oxidation p53 pantothenate partially plays showing starvation upon upregulates