ID:OPHN1_HUMAN DESCRIPTION: RecName: Full=Oligophrenin-1; FUNCTION: 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 (By similarity). Critical for the stabilization of AMPA receptors at postsynaptic sites (By similarity). Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals (By similarity). SUBUNIT: Interacts with HOMER1. Interacts with AMPA receptor complexes. Interacts with SH3GL2 (endophilin-A1) (By similarity). SUBCELLULAR LOCATION: Cell junction, synapse. Cell projection, axon. Cell projection, dendritic spine. Note=Present in both presynaptic and postsynaptic sites (By similarity). TISSUE SPECIFICITY: Expressed in brain. DISEASE: Defects in OPHN1 are the cause of mental retardation X- linked OPHN1-related (MRXSO) [MIM:300486]; formerly designated MRX60. MRXSO is a syndromic mental retardation. Patients present mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism. SIMILARITY: Contains 1 PH domain. SIMILARITY: Contains 1 Rho-GAP domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPHN1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00169 - PH domain PF00620 - RhoGAP domain PF16746 - BAR domain of APPL family
SCOP Domains: 48350 - GTPase activation domain, GAP 48371 - ARM repeat 103657 - BAR/IMD domain-like 50729 - PH domain-like
ModBase Predicted Comparative 3D Structure on O60890
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
