PACSIN1
Description
The PACSIN1 (protein kinase C and casein kinase substrate in neurons 1) is a protein-coding gene located on chromosome 6.
Protein kinase C and casein kinase substrate in neurons protein 1, also known as syndapin I, is an enzyme encoded by the PACSIN1 gene in humans. PACSIN1 interacts with GTPases of the Dynamin family (Dynamin 1, 2 and 3). Based on this interaction, its localization and functional role the protein was named syndapin I (synaptic dynamin-associated protein I).
PACSIN1 plays a critical role in the reorganization of the microtubule cytoskeleton by interacting with MAPT, which decreases microtubule stability and inhibits MAPT-induced microtubule polymerization. It also facilitates cellular transport processes by recruiting DNM1, DNM2, and DNM3 to membranes. Furthermore, PACSIN1 is involved in the reorganization of the actin cytoskeleton and neuron morphogenesis through its interactions with COBL and WASL, as well as by recruiting COBL to the cell cortex. This protein is essential for the regulation of neurite formation, neurite branching, and neurite length. PACSIN1 is required for normal synaptic vesicle endocytosis, a process that retrieves previously released neurotransmitters to support multiple rounds of neurotransmission. It is also crucial for normal excitatory and inhibitory synaptic transmission. PACSIN1 binds to membranes via its F-BAR domain, mediating membrane tubulation.
PACSIN1 is also known as SDPI.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- plasma fibronectin deficiency
- pentosuria
- myopathy due to calsequestrin and SERCA1 protein overload
