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OPHN1 (human)

Overview OPHN1 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. Defects in OPHN1 are the cause of mental retardation X- linked OPHN1-related (MRXSO); formerly designated MRX60. MRXSO is a syndromic mental retardation. Patients present mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism. Note: This description may include information from UniProtKB. Protein type: Motility/polarity/chemotaxis; GTPase activating protein, Rac/Rho Cellular Component: dendritic spine; terminal button; cytosol; cell junction; actin cytoskeleton Molecular Function: ionotropic glutamate receptor binding; Rho GTPase activator activity; phospholipid binding; cytoskeletal adaptor activity; actin binding; SH3 domain binding Biological Process: nervous system development; axon guidance; regulation of small GTPase mediated signal transduction; regulation of synaptic transmission, glutamatergic; filopodium formation; small GTPase mediated signal transduction; synaptic vesicle endocytosis; regulation of endocytosis; signal transduction; actin cytoskeleton organization and biogenesis; substrate-bound cell migration, cell extension Reference #:  O60890 (UniProtKB) Alt. Names/Synonyms: ARHGAP41; mental retardation, X-linked 60; MRX60; oligophrenin 1; Oligophrenin-1; oligophrenin-1, Rho-GTPase activating protein; OPHN1; OPN1 Gene Symbols: OPHN1 Molecular weight: 91,641 Da Basal Isoelectric point: 8.08  Predict pI for various phosphorylation states Protein-Specific Antibodies or siRNAs from Cell Signaling Technology®

Select Structure to View Below OPHN1

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  DISEASE 300127 300486  |  Source  |  UCSD-Nature  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	Modification Sites and Domains

	Modification Sites in Parent Protein, Orthologs, and Isoforms

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		T218	NSLTVELTQDFLPYK
0	161		Y370-p	MDGKEPIyHsPITKQ
0	2		S372-p	GKEPIyHsPITKQQE
0	1		Y480-p	AKSDNLDyRLGAIHS
0	2		S652-p	ETDPGRKsPSRPILD
0	1		S696-p	TNGPMPGsGPTKTPs
0	1		S703-p	sGPTKTPsFHIKRPA

	mouse
T218-p	NSLTVELtQDFLPYK
Y370-p	MDGKEPIyHTPITKQ
T372	GKEPIyHTPITKQEE
Y480	AKSDNLDYRLGAIHS
S652-p	ETDPGRKsPSRPVSD
S696	SNGPVPGSGHTKTSs
S703-p	SGHTKTSsFHIRRPA

	rat
T218	NSLTVELTQDFLPYK
Y370	MDGKEPIYHSPITKQ
S372	GKEPIYHSPITKQEE
Y480	AKSDNLDYRLGAIHS
S652	EMDPGRKSPSRPVSD
S696	SNGPVPGSGHTKTSS
S703	SGHTKTSSFHIKRPA

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