| Gene Symbol |
OPHN1
|
| Entrez Gene |
4983
|
| Alt Symbol |
ARHGAP41, MRX60, OPN1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
oligophrenin 1
|
| Other Description |
mental retardation, X-linked 60|oligophrenin-1|oligophrenin-1, Rho-GTPase activating protein
|
| Swissprots |
B9EIP8 Q6PCC1 Q8WX47 O60890 Q5JQ81
|
| Accessions |
BAC80690 BAC80691 BAC80692 BAC80693 BAC80694 BAC80695 BAC80696 BAC80697 BAC80698 BAC80699 BAC80700 BAC80701 BAC80702 BAC80703 BAC80704 BAC80705 BAC80706 BAC80707 BAC80708 BAC80709 CAB96181 CAC07882 EAX05378 O60890 AB102656 BAC81125 AJ001189 CAA04579 AK295769 BAG58594 AK309665 AK309696 BC059393 AAH59393 BC140763 AAI40764 BP357826 XM_005262270 XP_005262327 XM_006724653 XP_006724716 XM_011530961 XP_011529263 NM_002547 NP_002538
|
| 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. 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}.
|
| Subcellular Location |
Cell 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}.
|
| Tissue Specificity |
Expressed in brain.
|