CHRNB1
entrez
1140
canonical
uniprot
P11230
canonical
ensembl
ENSG00000170175
resolver
ensembl
ENSG00000283946
resolver
ensp
ENSP00000304290
resolver
genesymbol
CHRNB1
resolver
genesymbol_syn
ACHRB
resolver
genesymbol_syn
CHRNB
resolver
hgnc
HGNC:1961
resolver
uniprot
B7Z5H1
resolver
uniprot
Q8IZ46
resolver
uniprot
Q96FB8
resolver
uniprot_entry
ACHB_HUMAN
resolver
uniprot_sec
B7Z5H1
resolver
uniprot_sec
Q8IZ46
resolver
uniprot_sec
Q96FB8
resolver
amino_acid_sequence
MTPGALLMLLGALGAPLAPGVRGSEAEGRLREKLFSGYDSSVRPAREVGDRVRVSVGLILAQLISLNEKDEEMSTKVYLDLEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNNDGNFDVALDISVVVSSDGSVRWQPPGIYRSSCSIQVTYFPFDWQNCTMVFSSYSYDSSEVSLQTGLGPDGQGHQEIHIHEGTFIENGQWEIIHKPSRLIQPPGDPRGGREGQRQEVIFYLIIRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEKMGLSIFALLTLTVFLLLLADKVPETSLSVPIIIKYLMFTMVLVTFSVILSVVVLNLHHRSPHTHQMPLWVRQIFIHKLPLYLRLKRPKPERDLMPEPPHCSSPGSGWGRGTDEYFIRKPPSDFLFPKPNRFQPELSAPDLRRFIDGPNRAVALLPELREVVSSISYIARQLQEQEDHDALKEDWQFVAMVVDRLFLWTFIIFTSVGTLVIFLDATYHLPPPDPFP
uniprot
proteins
disease_involvement
DISEASE: Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. {ECO:0000269|PubMed:27375219, ECO:0000269|PubMed:8651643, ECO:0000269|PubMed:8872460}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CMS2C) [MIM:616314]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. CMS2C is clinically characterized by early-onset muscle weakness with variable severity. {ECO:0000269|PubMed:10562302}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:27375219}.
uniprot
proteins
mass_dalton
56698
uniprot
proteins
protein_family
Acetylcholine receptor (TC 1.A.9.1) subfamily
uniprot
proteins
protein_family
Beta-1/CHRNB1 sub-subfamily
uniprot
proteins
protein_family
Ligand-gated ion channel (TC 1.A.9) family
uniprot
proteins
pubmed
10562302
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15609996
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
27375219
uniprot
proteins
pubmed
2740233
uniprot
proteins
pubmed
8651643
uniprot
proteins
pubmed
8872460
uniprot
proteins
sequence_length
501
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 245..269; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 277..295; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 311..332; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 470..488; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins