Predicted to enable SNAP receptor activity and syntaxin binding activity. Involved in cholinergic synaptic transmission. Located in plasma membrane and synapse. Expressed in several structures, including CAN; excretory gland cell; mechanosensory neurons; rectal gland cell; and somatic nervous system. Human ortholog(s) of this gene implicated in Down syndrome and congenital myasthenic syndrome 18. Is an ortholog of human SNAP25 (synaptosome associated protein 25).
Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Enables protein kinase binding activity. Involved in several processes, including regulation of dendritic spine morphogenesis; regulation of protein tyrosine kinase activity; and substrate adhesion-dependent cell spreading. Located in actin cytoskeleton and cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Is predicted to encode a protein with the following domains: Target SNARE coiled-coil homology domain; SNAP-25 family; and SNAP-25 domain. Is an ortholog of C. elegans ric-4. In C. elegans, ric-4 is involved in cholinergic synaptic transmission.
Is predicted to encode a protein with the following domains: Target SNARE coiled-coil homology domain; SNAP-25 family; and SNAP-25 domain. Is an ortholog of C. elegans ric-4. In C. elegans, ric-4 is involved in cholinergic synaptic transmission.
Is predicted to encode a protein with the following domains: Target SNARE coiled-coil homology domain; SNAP-25 family; and SNAP-25 domain. Is an ortholog of C. elegans ric-4. In C. elegans, ric-4 is involved in cholinergic synaptic transmission.
Is predicted to encode a protein with the following domains: Target SNARE coiled-coil homology domain; SNAP-25 family; and SNAP-25 domain. Is an ortholog of C. elegans ric-4. In C. elegans, ric-4 is involved in cholinergic synaptic transmission.
Is predicted to encode a protein with the following domains: Target SNARE coiled-coil homology domain; SNAP-25 family; and SNAP-25 domain. Is an ortholog of C. elegans ric-4. In C. elegans, ric-4 is involved in cholinergic synaptic transmission.
Is predicted to encode a protein with the following domains: Target SNARE coiled-coil homology domain; SNAP-25 family; and SNAP-25 domain. Is an ortholog of C. elegans ric-4. In C. elegans, ric-4 is involved in cholinergic synaptic transmission.