SYN1

Synapsin-1 is a neuron-specific presynaptic phosphoprotein that coats synaptic vesicles and serves as a multivalent scaffold to organize synaptic vesicle (SV) clusters within presynaptic boutons. Through its interactions with both SV membranes (via domain A phospholipid binding) and the actin cytoskeleton (via domain C), SYN1 maintains the reserve pool of synaptic vesicles and regulates their mobilization to the readily releasable pool. The central domain C contains an ATP-binding site. SYN1 undergoes liquid-liquid phase separation (LLPS) to form dynamic presynaptic condensates that compartmentalize SVs. Multiple phosphorylation sites (by PKA, CaMK2, MAPK) and SUMOylation regulate its membrane and actin binding properties, thereby controlling SV clustering and neurotransmitter release dynamics. Loss-of-function mutations cause X-linked epilepsy and intellectual disability due to disrupted excitatory/inhibitory balance at synapses.

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.