MGP Database

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MGP002160

UniProt Annotations

Entry Information
Gene Nameoligophrenin 1
Protein EntryOPHN1_HUMAN
UniProt IDO60890
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60890-1; Sequence=Displayed; Name=2; IsoId=O60890-2; Sequence=VSP_055336, VSP_055337; Note=No experimental confirmation available.;
DiseaseMental retardation, X-linked, syndromic, OPHN1-related (MRXSO) [MIM:300486]: 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. {ECO:0000269|PubMed:10439959, ECO:0000269|PubMed:21796728, ECO:0000269|PubMed:9582072}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionStimulates 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). {ECO:0000250}.
SimilarityContains 1 PH domain. {ECO:0000255|PROSITE- ProRule:PRU00145}.
SimilarityContains 1 Rho-GAP domain. {ECO:0000255|PROSITE- ProRule:PRU00172}.
Subcellular LocationCell junction, synapse. Cell projection, axon. Cell projection, dendritic spine. Cell projection, dendrite {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Present in both presynaptic and postsynaptic sites. {ECO:0000250}.
SubunitInteracts with HOMER1. Interacts with AMPA receptor complexes. Interacts with SH3GL2 (endophilin-A1) (By similarity). Interacts (via C-terminus) with NR1D1 (By similarity). {ECO:0000250}.
Tissue SpecificityExpressed in brain.
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