CHRNA3

This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described.

Full Name

CHRNA3

Function

After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Biological Process

Acetylcholine receptor signaling pathway Source: ARUK-UCL
Activation of transmembrane receptor protein tyrosine kinase activity Source: UniProtKB
Behavioral response to nicotine Source: UniProtKB
Chemical synaptic transmission Source: GO_Central
Excitatory postsynaptic potential Source: UniProtKB
Ion transmembrane transport Source: GO_Central
Ion transport Source: UniProtKB
Locomotory behavior Source: UniProtKB
Nervous system development Source: UniProtKB
Nervous system process Source: GO_Central
Regulation of acetylcholine secretion, neurotransmission Source: UniProtKB
Regulation of dendrite morphogenesis Source: UniProtKB
Regulation of membrane potential Source: UniProtKB
Regulation of smooth muscle contraction Source: UniProtKB
Response to acetylcholine Source: ARUK-UCL
Signal transduction Source: UniProtKB
Synaptic transmission, cholinergic Source: UniProtKB
Synaptic transmission involved in micturition Source: UniProtKB

Cellular Location

Postsynaptic cell membrane; Cell membrane

Involvement in disease

Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT (BAIPRCK): An autosomal recessive disease characterized by impaired innervation and autonomic dysfunction of the urinary bladder, hydronephrosis, vesicoureteral reflux, small kidneys, recurrent urinary tract infections, and progressive renal insufficiency. Additional autonomic features are impaired pupillary reflex and orthostatic hypotension. The disease manifests in utero or early childhood.

Topology

Extracellular: 32-240
Helical: 241-265
Helical: 273-291
Helical: 307-328
Cytoplasmic: 329-477
Helical: 478-497