OPHN1

Description		oligophrenin 1
Image		No pdb structure
GO Annotations	Cellular Component	Cytoplasm Cytosol Actin Cytoskeleton Terminal Bouton Dendritic Spine Glutamatergic Synapse
	Molecular Function	Actin Binding GTPase Activator Activity Phospholipid Binding Ionotropic Glutamate Receptor Binding
	Biological Process	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 Positive Regulation Of GTPase Activity Establishment Of Epithelial Cell Apical/basal Polarity Synaptic Vesicle Endocytosis Cell Morphogenesis Involved In Neuron Differentiation Regulation Of Small GTPase Mediated Signal Transduction Regulation Of Synaptic Transmission, Glutamatergic Maintenance Of Postsynaptic Specialization Structure Regulation Of Postsynaptic Neurotransmitter Receptor Internalization Negative Regulation Of Proteasomal Protein Catabolic Process
Pathways		Rho 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 ( 30573740 28196072)
Interacting Genes		3 interacting genes: CDC42 RAC1 RHOA
Entrez ID		4983
HPRD ID		02130
Ensembl ID		ENSG00000079482
Uniprot IDs		O60890
PDB IDs
Enriched GO Terms of Interacting Partners?
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