oligophrenin-1 (OPHN1)

Function

• stimulates GTP hydrolysis of members of the Rho family
• its action on RHOA activity & signaling is implicated in growth & stabilization of dendritic spines, & thus in synaptic function (putative)
• role in stabilization of AMPA receptors at post-synaptic sites (putative)
• role in regulation of synaptic vesicle endocytosis at pre-synaptic terminals (putative)
• interacts with HOMER1
• interacts with AMPA receptor complexes
• interacts with SH3GL2 (endophilin-A1) (putative)

Structure

• contains 1 PH domain
• contains 1 Rho-GAP domain

Compartment

• cell junction, synapse
• cell projection, axon, dendritic spine
• present in both pre-synaptic & post-synaptic sites (putative)

Expression

expressed in brain

Pathology

• defects in OPHN1 are the cause of mental retardation X-linked OPHN1-related

More general terms

• rho GTPase-activating protein (rho-GAP)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4983
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4983
• OMIM: https://mirror.omim.org/entry/300127
• OMIM: https://mirror.omim.org/entry/300486
• UniProt: http://www.uniprot.org/uniprot/O60890.html