Entity Details

Primary name OPHN1
Entity type gene
Source Source Link

Details

PrimaryID4983
RefseqGeneNG_008960
SymbolOPHN1
Nameoligophrenin 1
ChromosomeX
LocationXq12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-05-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsOPHN1_HUMAN

GO terms

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GOName
GO:0003779 actin binding
GO:0005096 GTPase activator activity
GO:0005543 phospholipid binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006930 substrate-dependent cell migration, cell extension
GO:0007165 signal transduction
GO:0007399 nervous system development
GO:0007411 axon guidance
GO:0015629 actin cytoskeleton
GO:0021707 cerebellar granule cell differentiation
GO:0021895 cerebral cortex neuron differentiation
GO:0030036 actin cytoskeleton organization
GO:0030100 regulation of endocytosis
GO:0030182 neuron differentiation
GO:0031175 neuron projection development
GO:0034329 cell junction assembly
GO:0035023 regulation of Rho protein signal transduction
GO:0035255 ionotropic glutamate receptor binding
GO:0043195 terminal bouton
GO:0043197 dendritic spine
GO:0045198 establishment of epithelial cell apical/basal polarity
GO:0048488 synaptic vesicle endocytosis
GO:0048667 cell morphogenesis involved in neuron differentiation
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0051966 regulation of synaptic transmission, glutamatergic
GO:0098880 maintenance of postsynaptic specialization structure
GO:0098978 glutamatergic synapse
GO:0099149 regulation of postsynaptic neurotransmitter receptor internalization
GO:1901799 negative regulation of proteasomal protein catabolic process

Diseases

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Disease IDSourceNameDescription
300486 OMIMMental retardation, X-linked, syndromic, OPHN1-related (MRXSO)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSO patients manifest mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions