InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CHRNA1

Summary

InnateDB Protein

IDBP-75532.7

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

ENSP00000261008

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.

Experimentally validated
Total	6 [view]
Protein-Protein	5 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004889	acetylcholine-activated cation-selective channel activity
GO:0005216	ion channel activity
GO:0005230	extracellular ligand-gated ion channel activity
GO:0015464	acetylcholine receptor activity
GO:0042166	acetylcholine binding

Biological Process

GO:0003009	skeletal muscle contraction
GO:0006810	transport
GO:0006811	ion transport
GO:0006812	cation transport
GO:0007165	signal transduction
GO:0007268	synaptic transmission
GO:0007274	neuromuscular synaptic transmission
GO:0007528	neuromuscular junction development
GO:0019228	neuronal action potential
GO:0034220	ion transmembrane transport
GO:0042391	regulation of membrane potential
GO:0046716	muscle cell cellular homeostasis
GO:0048630	skeletal muscle tissue growth
GO:0050881	musculoskeletal movement
GO:0050905	neuromuscular process
GO:0070050	neuron cellular homeostasis

Cellular Component

GO:0005886	plasma membrane
GO:0005892	acetylcholine-gated channel complex
GO:0009986	cell surface
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030054	cell junction
GO:0031594	neuromuscular junction
GO:0045211	postsynaptic membrane

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

PFAM

PF02932
PF02931

PRINTS

PR00254
PR00252

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P02708