piccolo presynaptic cytomatrix protein
Annotations refreshed 9 hours ago.
Moderate Evidence (Amber)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalAdult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomalAtaxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalCerebellar hypoplasia
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
Hereditary ataxia
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal+1 more panels — install the extension to see the full list inline on any page.
pontocerebellar hypoplasia type 3
major depressive disorder
alcohol drinking
type 1 diabetes mellitus
irritable bowel syndrome
Nausea and vomiting
insomnia
schizophrenia
post-traumatic stress disorder
attention deficit-hyperactivity disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein piccolo
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). Also functions 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). Also mediates 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)
Curated MONDO disease pages that list PCLO among their top associated genes.
PCLO · Q9Y6V0-3isoform
No predicted structure exists for the canonical Q9Y6V0 sequence; metrics below describe this isoform.
Mean pLDDT
66.1/ 100
Low
356 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
