| 简介 | The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]
Diseases associated with RPH3A include Bardet-Biedl Syndrome 18 and Epilepsy. Among its related pathways are Deregulation of Rab and Rab effector genes in bladder cancer and Disruption of postsynaptic signaling by CNV. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein-containing complex binding. An important paralog of this gene is DOC2B.
Plays an essential role in docking and fusion steps of regulated exocytosis (By similarity).
At the presynaptic level, RPH3A is recruited by RAB3A to the synaptic vesicle membrane in a GTP-dependent manner where it modulates synaptic vesicle trafficking and calcium-triggered neurotransmitter release (By similarity).
In the post-synaptic compartment, forms a ternary complex with GRIN2A and DLG4 and regulates NMDA receptor stability.
Also plays a role in the exocytosis of arginine vasopressin hormone (By similarity).
related to rat rabphilin 3A
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250 UniProtKB:P47709}
Cell projection, dendritic spine {ECO:0000250 UniProtKB:P47709}4
Postsynaptic cell membrane {ECO:0000250 UniProtKB:P47709}
Membrane; Peripheral membrane protein {ECO:0000250 UniProtKB:P47709}4
Quaternary structure:
Interacts with RAB3B, RAB3C, RAB3D, RAB8A, RAB27A and RAB27B (By similarity).
Interacts with RAB3A; this interaction recruits RPH3A to synaptic vesicules (PubMed:15207266).
Interacts (via C2B domain) with SNAP25 (By similarity).
Interacts with deubiquitinating enzyme CAND1; this interaction results in the deubiquitination of RPH3A (By similarity).
Interacts with GRIN2A and DLG4; this ternary complex regulates NMDA receptor composition at postsynaptic membranes (By similarity).
Interacts with SNCA (PubMed:15207266). |
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