• Gene id: 1134

Gene Summary

• Gene Symbol: CHRNA1   Gene   UCSC   Ensembl
• Aliases: ACHRA, ACHRD, CHRNA, CMS1A, CMS1B, CMS2A, FCCMS, SCCMS
• Gene name: cholinergic receptor nicotinic alpha 1 subunit
• Alternate names: acetylcholine receptor subunit alpha, acetylcholine receptor, nicotinic, alpha 1 (muscle), cholinergic receptor, nicotinic alpha 1, cholinergic receptor, nicotinic, alpha 1 (muscle), cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle), muscle nicotin,
• Gene location: 2q31.1 (174764471: 174747591)     Exons: 10     NC_000002.12
• Gene summary(Entrez): The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternativel

Protein Summary

• Protein general information: P02708  
  • Name: Acetylcholine receptor subunit alpha
  • Length: 482  
  • Mass: 54546
  • 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.
• Sequence:

  MEPWPLLLLFSLCSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDHRQVVEVTVGLQLIQLINVDEVNQIVTTNVR
  LKQGDMVDLPRPSCVTLGVPLFSHLQNEQWVDYNLKWNPDDYGGVKKIHIPSEKIWRPDLVLYNNADGDFAIVKF
  TKVLLQYTGHITWTPPAIFKSYCEIIVTHFPFDEQNCSMKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKE
  SRGWKHSVTYSCCPDTPYLDITYHFVMQRLPLYFIVNVIIPCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTV
  FLLVIVELIPSTSSAVPLIGKYMLFTMVFVIASIIITVIVINTHHRSPSTHVMPNWVRKVFIDTIPNIMFFSTMK
  RPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPLIKHPEVKSAIEGIKYIAETMKSDQESNNAAAEWKYVAMV
  MDHILLGVFMLVCIIGTLAVFAGRLIELNQQG

• Structural information:
  • Interpro: IPR006202  IPR036734  IPR006201  IPR036719  IPR006029   IPR018000  IPR002394  
  • Prosite: PS00236
  • PDB: 1Y5P 1Y5T 1Y6C 4ZJS 5HBT
  • PDBsum: 1Y5P 1Y5T 1Y6C 4ZJS 5HBT
  • STRING: ENSP00000261007
• Other Databases: GeneCards:  CHRNA1  Malacards:  CHRNA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007271	synaptic transmission, cholinergic	IBA	biological process
GO:0007274	neuromuscular synaptic transmission	IBA	biological process
GO:0015464	acetylcholine receptor activity	IBA	contributes to
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0035094	response to nicotine	IBA	biological process
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0045202	synapse	IBA	cellular component
GO:0005892	acetylcholine-gated channel complex	IBA	cellular component
GO:0007165	signal transduction	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0042166	acetylcholine binding	IBA	contributes to
GO:0043005	neuron projection	IBA	cellular component
GO:0050877	nervous system process	IBA	biological process
GO:0005230	extracellular ligand-gated ion channel activity	IEA	molecular function
GO:0022848	acetylcholine-gated cation-selective channel activity	IEA	molecular function
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0022848	acetylcholine-gated cation-selective channel activity	TAS	molecular function
GO:0005216	ion channel activity	TAS	molecular function
GO:0015464	acetylcholine receptor activity	TAS	molecular function
GO:0005892	acetylcholine-gated channel complex	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0031594	neuromuscular junction	IDA	cellular component
GO:0022848	acetylcholine-gated cation-selective channel activity	IMP	molecular function
GO:0007528	neuromuscular junction development	IMP	biological process
GO:0042391	regulation of membrane potential	IMP	biological process
GO:0007274	neuromuscular synaptic transmission	IMP	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0042166	acetylcholine binding	IEA	molecular function
GO:0022848	acetylcholine-gated cation-selective channel activity	IEA	molecular function
GO:0005892	acetylcholine-gated channel complex	IEA	cellular component
GO:0022848	acetylcholine-gated cation-selective channel activity	IEA	molecular function
GO:0006812	cation transport	IEA	biological process
GO:0005892	acetylcholine-gated channel complex	IEA	cellular component
GO:0099060	integral component of postsynaptic specialization membrane	IEA	cellular component
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015464	acetylcholine receptor activity	IEA	molecular function
GO:0009986	cell surface	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0003009	skeletal muscle contraction	IEA	biological process
GO:0022848	acetylcholine-gated cation-selective channel activity	ISS	contributes to
GO:0042166	acetylcholine binding	ISS	contributes to
GO:0015464	acetylcholine receptor activity	ISS	contributes to
GO:0005892	acetylcholine-gated channel complex	ISS	cellular component
GO:0019228	neuronal action potential	IMP	biological process
GO:0046716	muscle cell cellular homeostasis	IMP	biological process
GO:0048630	skeletal muscle tissue growth	IMP	biological process
GO:0050905	neuromuscular process	IMP	biological process
GO:0070050	neuron cellular homeostasis	IMP	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0003009	skeletal muscle contraction	IMP	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0031594	neuromuscular junction	ISS	cellular component
GO:0042391	regulation of membrane potential	IMP	biological process
GO:0045211	postsynaptic membrane	NAS	cellular component
GO:0050881	musculoskeletal movement	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IMP	molecular function
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IMP	molecular function
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IDA	molecular function
GO:0031594	neuromuscular junction	IMP	cellular component
GO:0031594	neuromuscular junction	IMP	cellular component
GO:0031594	neuromuscular junction	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Multiple pterygium syndrome	KEGG:H00986
Congenital myasthenic syndrome	KEGG:H00770
Multiple pterygium syndrome	KEGG:H00986
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R