NPC2 and SCNN1A

		NPC2	SCNN1A
Description		NPC intracellular cholesterol transporter 2	sodium channel epithelial 1 subunit alpha
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GO Annotations	Cellular Component	Extracellular Region Extracellular Space Lysosome Endoplasmic Reticulum Azurophil Granule Lumen Lysosomal Lumen Extracellular Exosome	Acrosomal Vesicle Cytoplasm Cytosol Plasma Membrane Cilium External Side Of Plasma Membrane Membrane Apical Plasma Membrane Cytoplasmic Vesicle Motile Cilium Sodium Channel Complex Cell Projection Ciliary Membrane Extracellular Exosome Sperm Principal Piece
	Molecular Function	Protein Binding Cholesterol Binding Enzyme Binding Sterol Binding Cholesterol Transfer Activity	Sodium Channel Activity Protein Binding Ligand-gated Sodium Channel Activity WW Domain Binding
	Biological Process	Lipid Metabolic Process Lipid Transport Steroid Metabolic Process Cholesterol Metabolic Process Response To Virus Gene Expression Cholesterol Storage Phospholipid Transport Sterol Transport Sterol Metabolic Process Regulation Of Isoprenoid Metabolic Process Cholesterol Transport Intracellular Sterol Transport Intracellular Cholesterol Transport Cholesterol Efflux Cholesterol Homeostasis Glycolipid Transport	Monoatomic Ion Transport Sodium Ion Transport Intracellular Sodium Ion Homeostasis Regulation Of Blood Pressure Monoatomic Ion Transmembrane Transport Sodium Ion Transmembrane Transport Multicellular Organismal-level Water Homeostasis Sensory Perception Of Salty Taste Sensory Perception Of Sour Taste Sodium Ion Homeostasis Cellular Response To Acidic PH Sodium Ion Import Across Plasma Membrane Cellular Response To Aldosterone Cellular Response To Vasopressin
Pathways		Neutrophil degranulation LDL clearance	Stimuli-sensing channels Sensory perception of salty taste
Drugs			Triamterene Amiloride
Diseases		Niemann-Pick type C disease (NPC), including: Niemann-Pick disease, type C1; Niemann-Pick disease, type C2	Bronchiectasis with or without elevated sweat chloride Hyperkalemic distal renal tubular acidosis (RTA type 4), including the following two diseases: Pseudohypoaldosteronism type I (PHA1); Pseudohypoaldosteronism type II (Gordon's syndrome)
GWAS		Intraocular pressure ( 31959993) Refractive error ( 32231278) Soluble receptor for advanced glycation end-product levels ( 26915486)	Adverse response to drug ( 30420678) Alopecia areata ( 25608926) Itch intensity from mosquito bite adjusted by bite size ( 28199695) Obesity (early onset extreme) ( 23563609) Primary biliary cirrhosis ( 22961000) Spleen volume ( 34128465)
Interacting Genes		9 interacting genes: BARD1 BRCA1 DHDDS ECT2 ERRFI1 LIG4 PAXIP1 TRIM14 USP4	17 interacting genes: COMMD10 CSNK2A1 EPN1 HECW1 ITCH NEDD4 NEDD4L SCNN1B SCNN1G SERP1 SNX3 STX1A TSG101 UBE2I USP10 WWP1 WWP2
Entrez ID		10577	6337
HPRD ID		03008	02575
Ensembl ID		ENSG00000119655	ENSG00000111319
Uniprot IDs		A0A024R6C0 G3V3E8 P61916	P37088
PDB IDs		5KWY 6W5V	2M3O 6BQN 6WTH
Enriched GO Terms of Interacting Partners?		Histone H2AK127 Ubiquitin Ligase Activity Histone H2AK129 Ubiquitin Ligase Activity Response To Ionizing Radiation Cellular Response To Ionizing Radiation BRCA1-BARD1 Complex BRCA1-B Complex Nuclear Ubiquitin Ligase Complex BRCA1-C Complex BRCA1-A Complex Cellular Response To Radiation Ubiquitin-modified Histone Reader Activity Response To Radiation DNA Strand Resection Involved In Replication Fork Processing DNA Recombination Response To Stress Cellular Response To Stress Regulation Of Cell Cycle G2/M Phase Transition Regulation Of DNA Damage Checkpoint Macromolecule Metabolic Process Protein K6-linked Ubiquitination Protein Metabolic Process Ubiquitin Protein Ligase Activity Condensed Chromosome Homologous Recombination Regulation Of Protein Metabolic Process Negative Regulation Of MRNA 3'-end Processing Regulation Of Cytokinesis, Actomyosin Contractile Ring Assembly Establishment Of Integrated Proviral Latency Adenosine Receptor Binding Cytosol To ERGIC Protein Transport Protein Localization To ERGIC COPI-coated Vesicle Budding Polyprenol Biosynthetic Process Dehydrodolichyl Diphosphate Synthase Complex Ditrans,polycis-polyprenyl Diphosphate Synthase [(2E,6E)-farnesyl Diphosphate Specific] Activity Adipose Tissue Development Mitotic G2/M Transition Checkpoint Post-translational Protein Modification DNA Repair Establishment Of Viral Latency Protein K33-linked Ubiquitination Uterine Epithelium Development Response To 1-oleoyl-sn-glycerol 3-phosphate	Modification-dependent Protein Catabolic Process Ubiquitin-dependent Protein Catabolic Process Proteolysis Involved In Protein Catabolic Process Protein Modification By Small Protein Conjugation Macromolecule Catabolic Process Negative Regulation Of Potassium Ion Export Across Plasma Membrane Post-translational Protein Modification Potassium Channel Inhibitor Activity Ubiquitin-protein Transferase Activity Regulation Of Potassium Ion Export Across Plasma Membrane Transmembrane Transporter Binding Protein Monoubiquitination Proteolysis Ubiquitin Protein Ligase Activity Protein Modification Process Negative Regulation Of Potassium Ion Transmembrane Transport Protein Ubiquitination Import Into Cell Sodium Ion Import Across Plasma Membrane Protein Metabolic Process Negative Regulation Of Potassium Ion Transport Catabolic Process Sensory Perception Of Salty Taste Extracellular Exosome Macromolecule Metabolic Process Biological Process Involved In Interaction With Host Cellular Response To Aldosterone Sodium Channel Complex Protein Catabolic Process Sodium Channel Inhibitor Activity Sensory Perception Of Sour Taste Cellular Response To Vasopressin Regulation Of Protein Catabolic Process Sodium Ion Transport Establishment Of Protein Localization To Vacuole Regulation Of Dendrite Morphogenesis Proteasome-mediated Ubiquitin-dependent Protein Catabolic Process Regulation Of Potassium Ion Transmembrane Transport Negative Regulation Of Cation Transmembrane Transport Receptor Internalization Positive Regulation Of Protein Catabolic Process Protein K63-linked Ubiquitination Negative Regulation Of Monoatomic Ion Transmembrane Transport Cytosol Cellular Response To Mineralocorticoid Stimulus Ligand-gated Sodium Channel Activity Regulation Of Protein Transport Endocytosis Endosome Negative Regulation Of Sodium Ion Transport
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