OPHN1

Description		oligophrenin 1
Image		No pdb structure
GO Annotations	Cellular Component	Cytoplasm Actin Cytoskeleton Axon Dendrite Cell Projection Terminal Bouton Dendritic Spine Synapse Presynapse Postsynapse Glutamatergic Synapse
	Molecular Function	Actin Binding GTPase Activator Activity Phospholipid Binding Ionotropic Glutamate Receptor Binding
	Biological Process	Endocytosis Substrate-dependent Cell Migration, Cell Extension Signal Transduction Nervous System Development Axon Guidance Cerebellar Granule Cell Differentiation Cerebral Cortex Neuron Differentiation Actin Cytoskeleton Organization Regulation Of Endocytosis Neuron Differentiation Neuron Projection Development Cell Junction Assembly Regulation Of Rho Protein Signal Transduction Establishment Of Epithelial Cell Apical/basal Polarity Synaptic Vesicle Endocytosis Cell Morphogenesis Involved In Neuron Differentiation Regulation Of Synaptic Transmission, Glutamatergic Maintenance Of Postsynaptic Specialization Structure Regulation Of Postsynaptic Neurotransmitter Receptor Internalization Regulation Of Synaptic Vesicle Endocytosis Negative Regulation Of Proteasomal Protein Catabolic Process
Pathways		RHOA GTPase cycle RHOB GTPase cycle RHOC GTPase cycle CDC42 GTPase cycle RAC1 GTPase cycle RAC2 GTPase cycle RHOQ GTPase cycle RHOG GTPase cycle RHOJ GTPase cycle RAC3 GTPase cycle
Drugs
Diseases		Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
GWAS		Excessive daytime sleepiness ( 27992416) Male-pattern baldness ( 28196072 30573740)
Novel Interacting Genes		3 novel interacting genes: CDC42 RAC1 RHOA
Interacting Genes		3 interacting genes: CDC42 RAC1 RHOA
Entrez ID		4983
HPRD ID		02130
Ensembl ID		ENSG00000079482
Uniprot IDs		A0A7P0Z4E9 O60890
PDB IDs
Enriched GO Terms of Interacting Partners?		Positive Regulation Of Stress Fiber Assembly Wnt Signaling Pathway, Planar Cell Polarity Pathway Membrane Invagination Non-canonical Wnt Signaling Pathway Positive Regulation Of Actin Filament Bundle Assembly G Protein Activity Regulation Of Stress Fiber Assembly G Protein-coupled Receptor Signaling Pathway Involved In Heart Process Establishment Or Maintenance Of Cell Polarity Positive Regulation Of Supramolecular Fiber Organization Thioesterase Binding Cell-cell Junction Organization Positive Regulation Of Cytoskeleton Organization Regulation Of Cell-substrate Adhesion Postsynapse Establishment Of Epithelial Cell Apical/basal Polarity Actin Filament Organization Regulation Of Actin Filament Organization Small GTPase-mediated Signal Transduction Wnt Signaling Pathway GTP-dependent Protein Binding Establishment Of Apical/basal Cell Polarity Establishment Of Monopolar Cell Polarity Establishment Or Maintenance Of Monopolar Cell Polarity Regulation Of Synapse Organization Polarized Epithelial Cell Differentiation GTPase Activity Positive Regulation Of Lamellipodium Assembly Regulation Of Actin Cytoskeleton Organization Cerebral Cortex Cell Migration Establishment Of Epithelial Cell Polarity Actin Cytoskeleton Organization Phagocytosis, Engulfment GTP Binding Regulation Of Actin Filament-based Process Regulation Of Supramolecular Fiber Organization Positive Regulation Of Lamellipodium Organization Actin Filament-based Process Focal Adhesion Regulation Of Protein-containing Complex Assembly Regulation Of Lamellipodium Assembly Telencephalon Cell Migration Substantia Nigra Development Dendrite Semaphorin-plexin Signaling Pathway Protein Kinase Binding Positive Regulation Of Cytokinesis Cell Junction Organization Positive Regulation Of Substrate Adhesion-dependent Cell Spreading Substrate Adhesion-dependent Cell Spreading
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