UniProt functional annotation for Q9Y6V0



	UniProt functional annotation for Q9Y6V0

UniProt code: Q9Y6V0.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: 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). {ECO:0000250|UniProtKB:Q9JKS6}.

Cofactor: Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence={ECO:0000255|PROSITE-ProRule:PRU00041}; Note=Binds 3 Ca(2+) ions per C2 domain. {ECO:0000255|PROSITE- ProRule:PRU00041};

Subunit: 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). {ECO:0000250|UniProtKB:Q9JKS6, ECO:0000250|UniProtKB:Q9QYX7}.

Subcellular location: Cell junction, synapse, presynaptic active zone {ECO:0000250|UniProtKB:Q9QYX7}. Note=Colocalizes with BSN in developing axons. {ECO:0000250|UniProtKB:Q9JKS6}.

Tissue specificity: Moderately expressed in the developing cerebral cortex. {ECO:0000269|PubMed:25832664}.

Domain: C2 domain 1 is involved in binding calcium and phospholipids. Calcium binds with low affinity but with high specificity and induces a large conformational change. {ECO:0000250|UniProtKB:Q9JKS6}.

Disease: Pontocerebellar hypoplasia 3 (PCH3) [MIM:608027]: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. PCH3 features include seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay. {ECO:0000269|PubMed:25832664}. Note=The disease is caused by variants affecting the gene represented in this entry.

Sequence caution: Sequence=AAB97937.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAD21789.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAL24187.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		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). {ECO:0000250\|UniProtKB:Q9JKS6}.


Cofactor:		Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence={ECO:0000255\|PROSITE-ProRule:PRU00041}; Note=Binds 3 Ca(2+) ions per C2 domain. {ECO:0000255\|PROSITE- ProRule:PRU00041};
Subunit:		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). {ECO:0000250\|UniProtKB:Q9JKS6, ECO:0000250\|UniProtKB:Q9QYX7}.
Subcellular location:		Cell junction, synapse, presynaptic active zone {ECO:0000250\|UniProtKB:Q9QYX7}. Note=Colocalizes with BSN in developing axons. {ECO:0000250\|UniProtKB:Q9JKS6}.
Tissue specificity:		Moderately expressed in the developing cerebral cortex. {ECO:0000269\|PubMed:25832664}.
Domain:		C2 domain 1 is involved in binding calcium and phospholipids. Calcium binds with low affinity but with high specificity and induces a large conformational change. {ECO:0000250\|UniProtKB:Q9JKS6}.
Disease:		Pontocerebellar hypoplasia 3 (PCH3) [MIM:608027]: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. PCH3 features include seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay. {ECO:0000269\|PubMed:25832664}. Note=The disease is caused by variants affecting the gene represented in this entry.
Sequence caution:		Sequence=AAB97937.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAD21789.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAL24187.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};