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SYN1

This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Excitatory neurons, Inhibitory neurons, Horizontal cells, Bipolar cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (HaCaT, HHSteC, NTERA-2, SCLC-21H, SH-SY5Y, SuSa)

Interaction

Homodimer. Interacts with CAPON. Forms a ternary complex with NOS1. Isoform Ib interacts with PRNP (By similarity).

Molecular function

Actin-binding

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For Research Use Only. Not For Clinical Use.

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