Entity Details

Primary name CHRNA1
Entity type gene
Source Source Link

Details

PrimaryID1134
RefseqGeneNG_008172
SymbolCHRNA1
Namecholinergic receptor nicotinic alpha 1 subunit
Chromosome2
Location2q31.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1990-05-10
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsACHA_HUMAN

GO terms

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GOName
GO:0003009 skeletal muscle contraction
GO:0005216 ion channel activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005892 acetylcholine-gated channel complex
GO:0007165 signal transduction
GO:0007268 chemical synaptic transmission
GO:0007274 neuromuscular synaptic transmission
GO:0007528 neuromuscular junction development
GO:0009986 cell surface
GO:0015464 acetylcholine receptor activity
GO:0019228 neuronal action potential
GO:0022848 acetylcholine-gated cation-selective channel activity
GO:0030594 neurotransmitter receptor activity
GO:0031594 neuromuscular junction
GO:0034220 ion transmembrane transport
GO:0042166 acetylcholine binding
GO:0042391 regulation of membrane potential
GO:0043005 neuron projection
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0046716 muscle cell cellular homeostasis
GO:0048630 skeletal muscle tissue growth
GO:0050877 nervous system process
GO:0050881 musculoskeletal movement
GO:0050905 neuromuscular process
GO:0070050 neuron cellular homeostasis
GO:0099060 integral component of postsynaptic specialization membrane
GO:1904315 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential

Diseases

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Disease IDSourceNameDescription
601462 OMIMMyasthenic syndrome, congenital, 1A, slow-channel (CMS1A)A common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by 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. CMS1A 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. The disease is caused by variants affecting the gene represented in this entry.
253290 OMIMMultiple pterygium syndrome, lethal type (LMPS)Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. The disease is caused by variants affecting the gene represented in this entry.
608930 OMIMMyasthenic syndrome, congenital, 1B, fast-channel (CMS1B)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. CMS1B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
CHRNA1CHRNEBioGRID, HPRD1712080 details
CHRNA1CHRNDBioGRID, HPRD7695910 8910344 details
CHRNA1CHRNGBioGRID, HPRD7695910 details
CHRNA1ITGA7BioGRID, HPRD10910772 details