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Protein Page:
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: GAPs; Motility/polarity/chemotaxis; GAPs, 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; actin binding
Biological Process: nervous system development; axon guidance; regulation of small GTPase mediated signal transduction; regulation of synaptic transmission, glutamatergic; small GTPase mediated signal transduction; synaptic vesicle endocytosis; regulation of endocytosis; signal transduction; actin cytoskeleton organization and biogenesis; substrate-bound cell migration, cell extension; positive regulation of Rho GTPase activity
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® Total Proteins
Select Structure to View Below

OPHN1

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 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
0 149 Y370-p MDGKEPIyHsPITKQ
0 1 S372-p GKEPIyHsPITKQQE
0 1 Y480-p AKSDNLDyRLGAIHS
0 5 S652-p ETDPGRKsPSRPILD
0 1 T685-p QDGGTKItPKATNGP
0 1 S696-p TNGPMPGsGPTKTPs
0 2 S703-p sGPTKTPsFHIKRPA
0 1 T753-p DPPCRAAtPQKPEPK
  mouse

 
T218-p NSLTVELtQDFLPYK
Y370-p MDGKEPIyHTPITKQ
T372 GKEPIyHTPITKQEE
Y480 AKSDNLDYRLGAIHS
S652-p ETDPGRKsPSRPVSD
T685 QDGGTKATPKASNGP
S696 SNGPVPGSGHTKTSs
S703-p SGHTKTSsFHIRRPA
T753 DPPCRSITPQKPEPK
  rat

 
T218 NSLTVELTQDFLPYK
Y370 MDGKEPIYHSPITKQ
S372 GKEPIYHSPITKQEE
Y480 AKSDNLDYRLGAIHS
S652 EMDPGRKSPSRPVSD
I685 QDGGTKAIPKASNGP
S696 SNGPVPGSGHTKTSS
S703 SGHTKTSSFHIKRPA
T753 DPPCRSSTSQKPESK
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