Homo sapiens Protein: CHRNA1 | |||||||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||||||
InnateDB Protein | IDBP-75530.5 | ||||||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||||
Gene Symbol | CHRNA1 | ||||||||||||||||||||||||||||||||
Protein Name | cholinergic receptor, nicotinic, alpha 1 (muscle) | ||||||||||||||||||||||||||||||||
Synonyms | ACHRA; ACHRD; CHRNA; CMS2A; FCCMS; SCCMS; | ||||||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||||||
Ensembl Protein | ENSP00000261007 | ||||||||||||||||||||||||||||||||
InnateDB Gene | IDBG-75528 (CHRNA1) | ||||||||||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||||||||||
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. | ||||||||||||||||||||||||||||||||
Subcellular Localization | Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. | ||||||||||||||||||||||||||||||||
Disease Associations | Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]: 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. {ECO:0000269PubMed:18252226}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=The alpha subunit is the main focus for antibody binding in myasthenia gravis. Myasthenia gravis is characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated by cranial nerves, and characteristically improved by cholinesterase-inhibiting drugs.Myasthenic syndrome, congenital, slow-channel (SCCMS) [MIM:601462]: 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. Congenital myasthenic syndrome slow-channel type is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes. {ECO:0000269PubMed:16685696, ECO:0000269PubMed:7619526, ECO:0000269PubMed:8872460, ECO:0000269PubMed:9158151, ECO:0000269PubMed:9221765}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myasthenic syndrome, congenital, fast-channel (FCCMS) [MIM:608930]: A congenital myasthenic syndrome characterized by kinetic abnormalities of the AChR. Due in most cases to mutations that decrease activity of the AChR by slowing the rate of opening of the receptor channel, speeding the rate of closure of the channel, or decreasing the number of openings of the channel during ACh occupancy. The result is failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. {ECO:0000269PubMed:10195214, ECO:0000269PubMed:12588888, ECO:0000269PubMed:15079006}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||||||||||
Tissue Specificity | Isoform 1 is only expressed in skeletal muscle. Isoform 2 is constitutively expressed in skeletal muscle, brain, heart, kidney, liver, lung and thymus. | ||||||||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||||||||
InterPro |
IPR002394
Nicotinic acetylcholine receptor IPR006029 Neurotransmitter-gated ion-channel transmembrane domain IPR006201 Neurotransmitter-gated ion-channel IPR006202 Neurotransmitter-gated ion-channel ligand-binding |
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PFAM |
PF02932
PF02931 |
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PRINTS |
PR00254
PR00252 |
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PIRSF | |||||||||||||||||||||||||||||||||
SMART | |||||||||||||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||||||
SwissProt | P02708 | ||||||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-P02708 | ||||||||||||||||||||||||||||||||
TrEMBL | A9X444 | ||||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||||
Entrez Gene | 1134 | ||||||||||||||||||||||||||||||||
UniGene | Hs.434479 | ||||||||||||||||||||||||||||||||
RefSeq | NP_001034612 | ||||||||||||||||||||||||||||||||
HUGO | HGNC:1955 | ||||||||||||||||||||||||||||||||
OMIM | 100690 | ||||||||||||||||||||||||||||||||
CCDS | CCDS33331 | ||||||||||||||||||||||||||||||||
HPRD | 00007 | ||||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||||
EMBL | AK299445 CH471058 DQ323658 S77094 X02502 X02503 X02504 X02505 X02506 X02507 X02508 X17104 X70108 Y00762 | ||||||||||||||||||||||||||||||||
GenPept | AAD14247 ABD27889 BAG61418 CAA26344 CAA34960 CAA49705 CAA68731 EAX11125 EAX11127 | ||||||||||||||||||||||||||||||||