UNC13A

This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis.

Full Name

UNC-13 HOMOLOG A

Function

Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-dependent refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in most excitatory/glutamatergic but not inhibitory/GABA-mediated synapses. Facilitates neuronal dense core vesicles fusion as well as controls the location and efficiency of their synaptic release (By similarity).
Also involved in secretory granule priming in insulin secretion. Plays a role in dendrite formation by melanocytes (PubMed:23999003).

Biological Process

Biological Process cell differentiation Source:UniProtKB-KW
Biological Process dense core granule priming Source:GO_Central1 Publication
Biological Process neuromuscular junction development Source:GO_Central1 Publication
Biological Process neuronal dense core vesicle exocytosis Source:UniProtKB
Biological Process neurotransmitter secretion Source:ParkinsonsUK-UCL
Biological Process positive regulation of dendrite extension Source:UniProtKB1 Publication
Biological Process presynaptic dense core vesicle exocytosis Source:GO_Central1 Publication
Biological Process regulation of synaptic transmission, glutamatergic Source:ParkinsonsUK-UCL1 Publication
Biological Process synaptic transmission, glutamatergic Source:GO_Central1 Publication
Biological Process synaptic vesicle docking Source:GO_Central1 Publication
Biological Process synaptic vesicle maturation Source:GO_Central1 Publication
Biological Process synaptic vesicle priming Source:GO_Central1 Publication

Cellular Location

Cytoplasm
Cell membrane
Presynaptic cell membrane
Presynaptic active zone
Translocated to the plasma membrane in response to phorbol ester binding.