HPS1

Description		HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Image		No pdb structure
GO Annotations	Cellular Component	Cytoplasm Lysosome Cytosol BLOC-3 Complex Cytoplasmic Vesicle
	Molecular Function	Guanyl-nucleotide Exchange Factor Activity Protein Binding Protein Dimerization Activity
	Biological Process	Lysosome Organization Visual Perception Vesicle-mediated Transport Platelet Dense Granule Organization Melanosome Assembly
Pathways		RAB GEFs exchange GTP for GDP on RABs
Drugs
Diseases		Hermansky-Pudlak syndrome (HPS)
GWAS		Bitter non-alcoholic beverage consumption ( 31046077) Metabolite levels ( 23823483) Obesity-related traits ( 23251661)
Novel Interacting Genes		2 novel interacting genes: HPS4 PSEN2
Interacting Genes		2 interacting genes: HPS4 PSEN2
Entrez ID		3257
HPRD ID		05403
Ensembl ID		ENSG00000107521
Uniprot IDs		A0A0S2Z3U9 A0A8V8TMQ9 A0A8V8TN94 H0Y4K4 Q92902
PDB IDs
Enriched GO Terms of Interacting Partners?		Regulation Of Eye Pigmentation Platelet Dense Granule Positive Regulation Of Eye Pigmentation BLOC-3 Complex Mitochondrion-endoplasmic Reticulum Membrane Tethering Gamma-secretase Complex Regulation Of Calcium Import Into The Mitochondrion Aspartic Endopeptidase Activity, Intramembrane Cleaving Positive Regulation Of Developmental Pigmentation Notch Receptor Processing Amyloid-beta Formation Regulation Of Developmental Pigmentation Membrane Protein Ectodomain Proteolysis Amyloid Precursor Protein Metabolic Process Amyloid-beta Metabolic Process Amyloid Precursor Protein Catabolic Process Melanocyte Differentiation Pigment Cell Differentiation Platelet Dense Granule Organization Melanosome Assembly Membrane Protein Proteolysis Melanosome Organization Positive Regulation Of Establishment Of Protein Localization To Mitochondrion Positive Regulation Of Protein Targeting To Mitochondrion Pigment Granule Organization Regulation Of Protein Targeting To Mitochondrion Nuclear Inner Membrane Synaptic Membrane Lysosome Organization Secretory Granule Organization Organelle Localization By Membrane Tethering Membrane Docking Coagulation Melanosome Blood Coagulation Notch Signaling Pathway Hemostasis Synaptic Vesicle Presynaptic Membrane Regulation Of Calcium Ion Transmembrane Transport
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