HPS4

Description		HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Image		No pdb structure
GO Annotations	Cellular Component	Cytoplasm Lysosome Lysosomal Membrane Cytosol Membrane BLOC-3 Complex Cytoplasmic Vesicle Melanosome Platelet Dense Granule
	Molecular Function	Guanyl-nucleotide Exchange Factor Activity Protein Binding Small GTPase Binding Protein Homodimerization Activity Protein Dimerization Activity
	Biological Process	Protein Targeting Lysosome Organization Blood Coagulation Hemostasis Vesicle-mediated Transport Melanocyte Differentiation Positive Regulation Of Eye Pigmentation Protein Stabilization Platelet Dense Granule Organization Melanosome Assembly Positive Regulation Of Protein Targeting To Mitochondrion
Pathways		RAB GEFs exchange GTP for GDP on RABs
Drugs
Diseases		Hermansky-Pudlak syndrome (HPS)
GWAS		3-month functional outcome in ischaemic stroke (modified Rankin score) ( 30796134) Ischemic stroke ( 26089329)
Interacting Genes		3 interacting genes: DSCR9 HPS1 RAC1
Entrez ID		89781
HPRD ID		05983
Ensembl ID		ENSG00000100099
Uniprot IDs		A0A8V8TMY3 A0A8V8TN06 A0A8V8TPB3 A8K2E6 F1LLU8 Q6P1K3 Q9NQG7
PDB IDs
Enriched GO Terms of Interacting Partners?		BLOC-3 Complex Positive Regulation Of Ovarian Follicle Development Negative Regulation Of Interleukin-23 Production Regulation Of ERK5 Cascade Angiotensin-activated Signaling Pathway Involved In Heart Process Embryonic Olfactory Bulb Interneuron Precursor Migration Cerebral Cortex GABAergic Interneuron Development Rho GDP-dissociation Inhibitor Binding Regulation Of Cell Adhesion Involved In Heart Morphogenesis Kinocilium Regulation Of Ovarian Follicle Development G Protein-coupled Receptor Signaling Pathway Involved In Heart Process Auditory Receptor Cell Morphogenesis Positive Regulation Of Skeletal Muscle Acetylcholine-gated Channel Clustering Erythrocyte Enucleation Hepatocyte Growth Factor Receptor Signaling Pathway Engulfment Of Apoptotic Cell Tangential Migration From The Subventricular Zone To The Olfactory Bulb Positive Regulation Of Bicellular Tight Junction Assembly Regulation Of Interleukin-23 Production Regulation Of Neuron Maturation Thioesterase Binding Regulation Of Skeletal Muscle Acetylcholine-gated Channel Clustering Positive Regulation Of Receptor Clustering Negative Regulation Of Fibroblast Migration Midbrain Dopaminergic Neuron Differentiation Ruffle Assembly Platelet Dense Granule Organization Melanosome Assembly Regulation Of Hydrogen Peroxide Metabolic Process Angiotensin-activated Signaling Pathway Rac Protein Signal Transduction Hyperosmotic Response Respiratory Burst Cochlea Morphogenesis NADPH Oxidase Complex Regulation Of Ruffle Assembly Dopaminergic Neuron Differentiation Sphingosine-1-phosphate Receptor Signaling Pathway Positive Regulation Of Neutrophil Migration Sphingolipid Mediated Signaling Pathway Negative Regulation Of Receptor-mediated Endocytosis Positive Regulation Of Lamellipodium Assembly Cerebral Cortex Cell Migration Positive Regulation Of Ruffle Assembly Phagocytic Cup Regulation Of Cell Maturation Interneuron Migration Positive Regulation Of Focal Adhesion Assembly Positive Regulation Of Rho Protein Signal Transduction
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