MLPH

Description		melanophilin
Image		No pdb structure
GO Annotations	Cellular Component	Cytoplasm Cytosol Dendrite Cortical Actin Cytoskeleton Perinuclear Region Of Cytoplasm Extracellular Exosome
	Molecular Function	Actin Binding Protein Binding Zinc Ion Binding Myosin Binding Protein-macromolecule Adaptor Activity Small GTPase Binding Metal Ion Binding
	Biological Process	Intracellular Protein Transport Melanosome Transport
Pathways		Regulation of MITF-M-dependent genes involved in pigmentation
Drugs
Diseases		Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
GWAS		Central corneal thickness ( 32528159) Heel bone mineral density ( 28869591 30598549) Height ( 33713608) Intraocular pressure ( 29617998) Prostate cancer ( 21743057)
Interacting Genes		7 interacting genes: BLOC1S6 C1orf216 MTDH MYO5A RAB27A RAB27B RECK
Entrez ID		79083
HPRD ID		09409
Ensembl ID		ENSG00000115648
Uniprot IDs		Q9BV36
PDB IDs
Enriched GO Terms of Interacting Partners?		Pigment Granule Localization Establishment Of Melanosome Localization Melanosome Localization Melanosome Transport Pigment Granule Transport Melanosome Establishment Of Vesicle Localization Vesicle Localization Myosin V Binding Late Endosome Melanocyte Differentiation Pigment Cell Differentiation Exocytic Vesicle Cytoskeleton-dependent Intracellular Transport Multivesicular Body Membrane Synaptic Vesicle Transport Establishment Of Organelle Localization Anterograde Axonal Transport Pigmentation Multivesicular Body Sorting Pathway Vesicle Cytoskeletal Trafficking Axon Cytoplasm Axonal Transport Apical Plasma Membrane Secretion By Cell GDP Binding Cytotoxic T Cell Degranulation Positive Regulation Of Constitutive Secretory Pathway G Protein Activity Bradykinin Biosynthetic Process Circadian Sleep/wake Cycle Protein Transport Axo-dendritic Transport Positive Regulation Of Exocytosis Organelle Localization Blood Coagulation Secretory Granule Ruffle Coagulation Secretion Hemostasis Establishment Of Protein Localization Protein Localization To Extracellular Region Establishment Of Protein Localization To Extracellular Region Protein Secretion Complement-dependent Cytotoxicity Regulation Of Establishment Of Blood-brain Barrier Intracellular Nitric Oxide Homeostasis Exosomal Secretion Establishment Of Localization In Cell
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