OPHN1

OPHN1
Identifiers
Aliases	OPHN1, ARHGAP41, MRX60, OPN1, oligophrenin 1, MRXSBL
External IDs	OMIM: 300127; MGI: 2151070; HomoloGene: 1913; GeneCards: OPHN1; OMA:OPHN1 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	68,433,913 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	97,934,631 bp
RNA expression pattern
	Top expressed in
	corpus callosum; ; Achilles tendon; ; sural nerve; ; ventricular zone; ; ganglionic eminence; ; Amygdala; ; nucleus accumbens; ; caudate nucleus; ; putamen; ; cingulate gyrus;
	Top expressed in
	zygote; ; trigeminal ganglion; ; primary oocyte; ; motor neuron; ; secondary oocyte; ; substantia nigra; ; sciatic nerve; ; Rostral migratory stream; ; internal carotid artery; ; external carotid artery;
	More reference expression data
	n/a
Gene ontology
Molecular function	GTPase activator activity; actin binding; ionotropic glutamate receptor binding; phospholipid binding;
Cellular component	cytoplasm; cytosol; cell projection; dendritic spine; synapse; axon; cell junction; terminal bouton; dendrite; actin cytoskeleton; glutamatergic synapse;
Biological process	regulation of endocytosis; endocytosis; substrate-dependent cell migration, cell extension; nervous system development; axon guidance; positive regulation of GTPase activity; synaptic vesicle endocytosis; negative regulation of proteasomal protein catabolic process; regulation of synaptic transmission, glutamatergic; regulation of small GTPase mediated signal transduction; actin cytoskeleton organization; signal transduction; cell junction assembly; establishment of epithelial cell apical/basal polarity; cerebellar granule cell differentiation; cerebral cortex neuron differentiation; neuron differentiation; neuron projection development; regulation of Rho protein signal transduction; cell morphogenesis involved in neuron differentiation; maintenance of postsynaptic specialization structure; regulation of postsynaptic neurotransmitter receptor internalization;
	Sources:Amigo / QuickGO
Orthologs
	4983
	94190
	ENSG00000079482
	ENSMUSG00000031214
	O60890
	Q99J31
	NM_002547
	NM_052976; NM_001313754; NM_001313755; NM_001313756
	NP_002538
	NP_001300683; NP_001300684; NP_001300685; NP_443208
	Wikidata
View/Edit Human	View/Edit Mouse

Oligophrenin-1 is a protein that in humans is encoded by the OPHN1 gene.