CHRNA3
entrez
1136
canonical
uniprot
P32297
canonical
ensembl
ENSG00000080644
resolver
ensp
ENSP00000267951
resolver
ensp
ENSP00000315602
resolver
genesymbol
CHRNA3
resolver
genesymbol_syn
NACHRA3
resolver
hgnc
HGNC:1957
resolver
uniprot
Q15823
resolver
uniprot
Q4KMN8
resolver
uniprot
Q86U77
resolver
uniprot
Q96RH3
resolver
uniprot
Q99553
resolver
uniprot
Q9BQ93
resolver
uniprot
Q9BRR4
resolver
uniprot_entry
ACHA3_HUMAN
resolver
uniprot_sec
Q15823
resolver
uniprot_sec
Q4KMN8
resolver
uniprot_sec
Q86U77
resolver
uniprot_sec
Q96RH3
resolver
uniprot_sec
Q99553
resolver
uniprot_sec
Q9BQ93
resolver
uniprot_sec
Q9BRR4
resolver
activity_regulation
ACTIVITY REGULATION: Activated by a myriad of ligands such as acetylcholine, cytisine, nicotine, choline and epibatidine (PubMed:11118490, PubMed:20881005, PubMed:31488329, PubMed:8906617). The heteropentamer CHRNA3:CHRNB2 activity is blocked by alpha-conotoxins ImI, ImII, PnIA, GID and MII (By similarity). The heteropentamer CHRNA3:CHRNB4 activity is blocked by the alpha-conotoxin ImI and AuIB (PubMed:15609996). {ECO:0000250|UniProtKB:P04757, ECO:0000269|PubMed:11118490, ECO:0000269|PubMed:15609996, ECO:0000269|PubMed:20881005, ECO:0000269|PubMed:31488329, ECO:0000269|PubMed:8906617}.
uniprot
proteins
amino_acid_sequence
MGSGPLSLPLALSPPRLLLLLLLSLLPVARASEAEHRLFERLFEDYNEIIRPVANVSDPVIIHFEVSMSQLVKVDEVNQIMETNLWLKQIWNDYKLKWNPSDYGGAEFMRVPAQKIWKPDIVLYNNAVGDFQVDDKTKALLKYTGEVTWIPPAIFKSSCKIDVTYFPFDYQNCTMKFGSWSYDKAKIDLVLIGSSMNLKDYWESGEWAIIKAPGYKHDIKYNCCEEIYPDITYSLYIRRLPLFYTINLIIPCLLISFLTVLVFYLPSDCGEKVTLCISVLLSLTVFLLVITETIPSTSLVIPLIGEYLLFTMIFVTLSIVITVFVLNVHYRTPTTHTMPSWVKTVFLNLLPRVMFMTRPTSNEGNAQKPRPLYGAELSNLNCFSRAESKGCKEGYPCQDGMCGYCHHRRIKISNFSANLTRSSSSESVDAVLSLSALSPEIKEAIQSVKYIAENMKAQNEAKEIQDDWKYVAMVIDRIFLWVFTLVCILGTAGLFLQPLMAREDA
uniprot
proteins
disease_involvement
DISEASE: Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT (BAIPRCK) [MIM:191800]: 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. {ECO:0000269|PubMed:31708116}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators (PubMed:31488329, PubMed:31708116). CHRNA3 forms heteropentameric neuronal acetylcholine receptors with CHRNB2 and CHRNB4, with CHRNA5, and CHRNB3 as accesory subunits (PubMed:20881005, PubMed:8663494). CHRNA3:CHRNB4 being predominant in neurons of the autonomic ganglia, it is known as ganglionic nicotinic receptor (PubMed:31488329). CHRNA3:CHRNB4 or CHRNA3:CHRNA5:CHRNB4 play also an important role in the habenulo-interpeduncular tract, modulating the mesolimbic dopamine system and affecting reward circuits and addiction (By similarity). Hypothalamic CHRNA3:CHRNB4 nAChR activation by nicotine leads to activation of POMC neurons and a decrease in food intake (By similarity). Also expressed in the urothelium where it modulates reflex bladder activity by increasing intracellular calcium through extracellular influx and basal ATP release (By similarity). {ECO:0000250|UniProtKB:P04757, ECO:0000250|UniProtKB:Q8R4G9, ECO:0000269|PubMed:20881005, ECO:0000269|PubMed:31488329, ECO:0000269|PubMed:31708116, ECO:0000269|PubMed:8663494}.
uniprot
proteins
mass_dalton
57480
uniprot
proteins
mutagenesis
MUTAGEN 279; /note="V->T: Increases potency of agonists."; /evidence="ECO:0000269|PubMed:11118490
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated; by STUB1/CHIP and thereafter degraded by the 26S proteosome complex. {ECO:0000250|UniProtKB:P04757}.
uniprot
proteins
protein_family
Acetylcholine receptor (TC 1.A.9.1) subfamily
uniprot
proteins
protein_family
Alpha-3/CHRNA3 sub-subfamily
uniprot
proteins
protein_family
Ligand-gated ion channel (TC 1.A.9) family
uniprot
proteins
pubmed
11118490
uniprot
proteins
pubmed
11450844
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15609996
uniprot
proteins
pubmed
16120769
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
18385676
uniprot
proteins
pubmed
18385720
uniprot
proteins
pubmed
18385738
uniprot
proteins
pubmed
18385739
uniprot
proteins
pubmed
1989896
uniprot
proteins
pubmed
20881005
uniprot
proteins
pubmed
2336208
uniprot
proteins
pubmed
26265139
uniprot
proteins
pubmed
27344019
uniprot
proteins
pubmed
31488329
uniprot
proteins
pubmed
31708116
uniprot
proteins
pubmed
8663494
uniprot
proteins
pubmed
8906617
uniprot
proteins
pubmed
9009220
uniprot
proteins
pubmed
9921897
uniprot
proteins
sequence_length
505
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Synaptic cell membrane {ECO:0000250|UniProtKB:P04757}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:31708116}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P04757}. Golgi apparatus {ECO:0000250|UniProtKB:P04757}. Note=Interaction with UBXN2A/UBXD4 promotes translocation to the plasma membrane. {ECO:0000250|UniProtKB:P04757}.
uniprot
proteins
transmembrane_region
TRANSMEM 251..266; /note="Helical"; /evidence="ECO:0000269|PubMed:31488329, ECO:0007744|PDB:6PV7"; TRANSMEM 269..285; /note="Helical"; /evidence="ECO:0000269|PubMed:31488329, ECO:0007744|PDB:6PV7"; TRANSMEM 308..326; /note="Helical"; /evidence="ECO:0000269|PubMed:31488329, ECO:0007744|PDB:6PV7"; TRANSMEM 475..493; /note="Helical"; /evidence="ECO:0000269|PubMed:31488329, ECO:0007744|PDB:6PV7
uniprot
proteins