Synapsin I

The A region binds phospholipids with a preference for negatively charged species.

Neuronal phosphoprotein that coats synaptic vesicles, and binds to the cytoskeleton. Acts as a regulator of synaptic vesicles trafficking, involved in the control of neurotransmitter release at the pre-synaptic terminal (PubMed:21441247, PubMed:23406870). Also involved in the regulation of axon outgrowth and synaptogenesis (By similarity). The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level (By similarity).

Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

EPILX1

A neurologic disorder characterized by variable combinations of epilepsy, learning difficulties, macrocephaly, and aggressive behavior.

None

The disease is caused by variants affecting the gene represented in this entry.

Intellectual developmental disorder, X-linked 50

XLID50

A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations.

None

The disease is caused by variants affecting the gene represented in this entry.

Substrate of different protein kinases. Phosphorylated by CaMK2 and MAPK1 (PubMed:21441247). Phosphorylation, including phosphorylation at Ser-9, promotes synapsin-1 dissociation from synaptic vesicles, regulates its rate of dispersion, and controls the kinetics of vesicle pool turnover and neurotransmitter release (By similarity) (PubMed:21441247).

Belongs to the synapsin family.

• Synapse
• Golgi apparatus
• Presynapse
• Cytoplasmic vesicle
• Secretory vesicle
• Synaptic vesicle
• Dissociates from synaptic vesicles and redistributes into the axon during action potential firing, in a step that precedes fusion of vesicles with the plasma membrane. Reclusters to presynapses after the cessation of synaptic activity.

Synapsin-1, Brain protein 4.1, Synapsin I, SYN1

• entrezGene:6853
• omim:313440
• swissprot:P17600

Proteins

Neuroscience

74111Da