OPHN1

This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq]

oligophrenin 1

Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity).

Actin cytoskeleton organizationManual Assertion Based On ExperimentIBA:GO_Central
Axon guidanceManual Assertion Based On ExperimentTAS:ProtInc
Cell junction assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Cell morphogenesis involved in neuron differentiationManual Assertion Based On ExperimentIMP:ARUK-UCL
Cerebellar granule cell differentiationManual Assertion Based On ExperimentIMP:ARUK-UCL
Cerebral cortex neuron differentiationManual Assertion Based On ExperimentIMP:ARUK-UCL
Establishment of epithelial cell apical/basal polarityManual Assertion Based On ExperimentIMP:UniProtKB
Maintenance of postsynaptic specialization structureIEA:Ensembl
Negative regulation of proteasomal protein catabolic processManual Assertion Based On ExperimentIBA:GO_Central
Nervous system developmentManual Assertion Based On ExperimentTAS:ProtInc
Neuron differentiationManual Assertion Based On ExperimentIMP:ARUK-UCL
Neuron projection developmentManual Assertion Based On ExperimentIMP:ARUK-UCL
Regulation of endocytosisManual Assertion Based On ExperimentIBA:GO_Central
Regulation of postsynaptic neurotransmitter receptor internalizationManual Assertion Based On ExperimentIDA:SynGO
Regulation of Rho protein signal transductionManual Assertion Based On ExperimentIMP:ARUK-UCL
Regulation of synaptic transmission, glutamatergicManual Assertion Based On ExperimentIBA:GO_Central
Signal transductionManual Assertion Based On ExperimentTAS:ProtInc
Substrate-dependent cell migration, cell extensionManual Assertion Based On ExperimentTAS:ProtInc
Synaptic vesicle endocytosisManual Assertion Based On ExperimentIBA:GO_Central

Cell junction, synapse, postsynapse
Cell junction, synapse, presynapse
Cell projection, axon
Cell projection, dendritic spine
Cell projection, dendrite
Cytoplasm

Intellectual developmental disorder, X-linked, syndromic, Billuart type (MRXSBL):
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSBL patients manifest mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism.