HPS1

Gene Name		Hermansky-Pudlak syndrome 1
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Cytoplasm Lysosome Integral Component Of Plasma Membrane Cytoplasmic Membrane-bounded Vesicle BLOC-3 Complex
	Molecular Function	Protein Binding Protein Dimerization Activity
	Biological Process	Lysosome Organization Blood Coagulation Visual Perception Melanocyte Differentiation Positive Regulation Of Natural Killer Cell Activation Secretion Of Lysosomal Enzymes Eye Pigmentation Retina Development In Camera-type Eye
Pathways
Drugs
Diseases
GWAS		Obesity-related traits ( 23251661)
Protein-protein Interactions		2 interactors: HPS4 PSEN2
Entrez ID		3257
HPRD ID		05403
Ensembl ID		ENSG00000107521
Uniprot IDs		Q658M9 Q92902
PDB IDs
Enriched GO Terms of Interacting Partners?		Positive Regulation Of Eye Pigmentation Regulation Of Eye Pigmentation Amyloid Precursor Protein Catabolic Process Positive Regulation Of Developmental Pigmentation Membrane Protein Intracellular Domain Proteolysis Positive Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors Membrane Protein Ectodomain Proteolysis Beta-amyloid Metabolic Process Amyloid Precursor Protein Metabolic Process Notch Receptor Processing Regulation Of Developmental Pigmentation Negative Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors Epithelium Development Regulation Of Epidermal Growth Factor-activated Receptor Activity Endoplasmic Reticulum Calcium Ion Homeostasis Dorsal/ventral Neural Tube Patterning Membrane Protein Proteolysis Positive Regulation Of Coagulation Melanocyte Differentiation Brain Morphogenesis Protein Transport Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors Establishment Of Protein Localization Neuroepithelial Cell Differentiation Cardiac Muscle Contraction Lung Alveolus Development Negative Regulation Of Protein Binding Lysosome Organization Thymus Development Neural Tube Patterning Regulation Of Protein Tyrosine Kinase Activity Heart Contraction Tissue Development T Cell Activation Involved In Immune Response Developmental Pigmentation Regulation Of Epidermal Growth Factor Receptor Signaling Pathway Regulation Of ERBB Signaling Pathway Protein Localization Somitogenesis Striated Muscle Contraction Positive Regulation Of Extrinsic Apoptotic Signaling Pathway Protein Stabilization Hair Follicle Development Hair Cycle Process Cell Fate Specification Somite Development Negative Regulation Of Binding Ephrin Receptor Signaling Pathway Vacuole Organization Hair Cycle
Tagcloud ?		abnormal ad appear appsw brains damaged excessive find gtpases happ hippocampal impair mfn1 mfn2 mitochondria mitochondrial mitofusin morphology neurogenesis obscure pathogenesis plaque preventive propose prp sh swedish sy5y theanine