| 简介 | The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Diseases associated with PCLO include Pontocerebellar Hypoplasia, Type 3 and Actin-Accumulation Myopathy. Among its related pathways are Sensory processing of sound and Olfactory Signaling Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and transporter activity. An important paralog of this gene is BSN.
Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released (By similarity).
After synthesis, participates in the formation of Golgi-derived membranous organelles termed Piccolo-Bassoon transport vesicles (PTVs) that are transported along axons to sites of nascent synaptic contacts (By similarity).
At the presynaptic active zone, regulates the spatial organization of synaptic vesicle cluster, the protein complexes that execute membrane fusion and compensatory endocytosis (By similarity).
Organizes as well the readily releasable pool of synaptic vesicles and safeguards a fraction of them to be not immediately available for action potential-induced release (By similarity).
Functions also in processes other than assembly such as the regulation of specific presynaptic protein ubiquitination by interacting with SIAH1 or the regulation of presynaptic autophagy (By similarity).
Mediates also synapse to nucleus communication leading to reconfiguration of gene expression by associating with the transcriptional corepressor CTBP1 and by subsequently reducing the size of its pool available for nuclear import (By similarity).
Presynaptic active zone {ECO:0000250 UniProtKB:Q9QYX7}
Note: Colocalizes with BSN in developing axons {ECO:0000250 UniProtKB:Q9JKS6}
Quaternary structure:
Interacts with BSN, ERC2/CAST1, RIMS1 and UNC13A (By similarity).
Interacts (via C-terminus) with TRIO (via N-terminus) (By similarity).
Interacts with CTBP1 (By similarity).
Interacts with SIAH1; this interaction negatively regulates SIAH1 E3 ligase activity (By similarity).
Directly interacts with GIT1 and GIT2 (By similarity). |
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