NRXN1: Cell surface protein involved in cell-cell-interactions, excytosis of secretory granules and regulation of signal transmission. Function is isoform-specific. Alpha-type isoforms have a long N-terminus with six laminin G-like domains and play an important role in synaptic signal transmission. Alpha-type isoforms play a role in the regulation of calcium channel activity and Ca(2+)-triggered neurotransmitter release at synapses and at neuromuscular junctions. They play an important role in Ca(2+)- triggered exocytosis of secretory granules in pituitary gland. They may effect their functions at synapses and in endocrine cells via their interactions with proteins from the exocytotic machinery. Likewise, alpha-type isoforms play a role in regulating the activity of postsynaptic NMDA receptors, a subtype of glutamate-gated ion channels. Both alpha-type and beta-type isoforms may play a role in the formation or maintenance of synaptic junctions via their calcium-dependent interactions (via the extracellular domains) with neuroligin family members, CBLN1 or CBLN2. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Alpha-type isoforms were first identified as receptors for alpha-latroxin from spider venom. Belongs to the neurexin family. 4 isoforms of the human protein are produced by alternative promoter.
Protein type: Membrane protein, integral; Receptor, misc.
Chromosomal Location of Human Ortholog: 2p16.3
Cellular Component: cell soma; cell surface; endoplasmic reticulum; integral to plasma membrane; nuclear membrane; plasma membrane; presynaptic membrane; vesicle
Molecular Function: acetylcholine receptor binding; calcium channel regulator activity; calcium ion binding; cell adhesion molecule binding; protein binding; receptor activity
Biological Process: adult behavior; axon guidance; learning; neuromuscular process controlling balance; neuron adhesion; neurotransmitter secretion; positive regulation of synaptic transmission, glutamatergic; positive regulation of synaptogenesis; social behavior; synaptic transmission; synaptogenesis; vocal learning
Disease: Chromosome 2p16.3 Deletion Syndrome; Pitt-hopkins-like Syndrome 2
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