OPHN1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0045198Biological processestablishment of epithelial cell apical/basal polarity
GO_1900242Biological processregulation of synaptic vesicle endocytosis
GO_0031175Biological processneuron projection development
GO_0007165Biological processsignal transduction
GO_0048488Biological processsynaptic vesicle endocytosis
GO_0051966Biological processregulation of synaptic transmission, glutamatergic
GO_1901799Biological processnegative regulation of proteasomal protein catabolic process
GO_0048667Biological processcell morphogenesis involved in neuron differentiation
GO_0030182Biological processneuron differentiation
GO_0030036Biological processactin cytoskeleton organization
GO_0006930Biological processsubstrate-dependent cell migration, cell extension
GO_0035023Biological processregulation of Rho protein signal transduction
GO_0099149Biological processregulation of postsynaptic neurotransmitter receptor internalization
GO_0034329Biological processcell junction assembly
GO_0030100Biological processregulation of endocytosis
GO_0098880Biological processmaintenance of postsynaptic specialization structure
GO_0021707Biological processcerebellar granule cell differentiation
GO_0021895Biological processcerebral cortex neuron differentiation
GO_0007399Biological processnervous system development
GO_0007411Biological processaxon guidance
GO_0098978Cellular componentglutamatergic synapse
GO_0043197Cellular componentdendritic spine
GO_0043195Cellular componentterminal bouton
GO_0015629Cellular componentactin cytoskeleton
GO_0005737Cellular componentcytoplasm
GO_0005543Molecular functionphospholipid binding
GO_0003779Molecular functionactin binding
GO_0005096Molecular functionGTPase activator activity
GO_0035255Molecular functionionotropic glutamate receptor binding

IV. Literature review

[source]
Gene nameOPHN1
Protein nameOligophrenin 1
Oligophrenin-1
Synonyms
DescriptionFUNCTION: 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). .

AccessionsA0A7P0Z4E9
ENST00000679822.1
ENST00000467444.1
ENST00000680804.1
A0A7P0T8V5
ENST00000681408.1
O60890
A0A7P0T9W4
ENST00000355520.6 [O60890-1]
ENST00000679748.1
A0A7P0T9G2
A0A7P0TBB6
ENST00000680612.1
A0A7P0TBH4
Q7Z2H1
ENST00000491714.2