• Gene id: 1138

Gene Summary

• Gene Symbol: CHRNA5   Gene   UCSC   Ensembl
• Aliases: LNCR2
• Gene name: cholinergic receptor nicotinic alpha 5 subunit
• Alternate names: neuronal acetylcholine receptor subunit alpha-5, Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5, acetylcholine receptor, nicotinic, alpha 5 (neuronal), cholinergic receptor, nicotinic alpha 5, cholinergic receptor, nicotinic, alpha 5 (neuronal),
• Gene location: 15q25.1 (59657514: 59638061)     Exons: 7     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of sepa
• OMIM: 118505

Protein Summary

• Protein general information: P30532  
  • Name: Neuronal acetylcholine receptor subunit alpha 5
  • Length: 468  
  • Mass: 53054
• Sequence:

  MAARGSGPRALRLLLLVQLVAGRCGLAGAAGGAQRGLSEPSSIAKHEDSLLKDLFQDYERWVRPVEHLNDKIKIK
  FGLAISQLVDVDEKNQLMTTNVWLKQEWIDVKLRWNPDDYGGIKVIRVPSDSVWTPDIVLFDNADGRFEGTSTKT
  VIRYNGTVTWTPPANYKSSCTIDVTFFPFDLQNCSMKFGSWTYDGSQVDIILEDQDVDKRDFFDNGEWEIVSATG
  SKGNRTDSCCWYPYVTYSFVIKRLPLFYTLFLIIPCIGLSFLTVLVFYLPSNEGEKICLCTSVLVSLTVFLLVIE
  EIIPSSSKVIPLIGEYLVFTMIFVTLSIMVTVFAINIHHRSSSTHNAMAPLVRKIFLHTLPKLLCMRSHVDRYFT
  QKEETESGSGPKSSRNTLEAALDSIRYITRHIMKENDVREVVEDWKFIAQVLDRMFLWTFLFVSIVGSLGLFVPV
  IYKWANILIPVHIGNANK

• Structural information:
  • Interpro: IPR006202  IPR036734  IPR006201  IPR036719  IPR006029   IPR018000  IPR002394  
  • Prosite: PS00236
  • STRING: ENSP00000299565
• Other Databases: GeneCards:  CHRNA5  Malacards:  CHRNA5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050877	nervous system process	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0042166	acetylcholine binding	IBA	contributes to
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0007165	signal transduction	IBA	biological process
GO:0005892	acetylcholine-gated channel complex	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0035094	response to nicotine	IBA	biological process
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0007274	neuromuscular synaptic transmission	IBA	biological process
GO:0007271	synaptic transmission, cholinergic	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0022848	acetylcholine-gated cation-selective channel activity	TAS	molecular function
GO:0015276	ligand-gated ion channel activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0045211	postsynaptic membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0035094	response to nicotine	IEA	biological process
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0098691	dopaminergic synapse	IEA	cellular component
GO:0005892	acetylcholine-gated channel complex	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	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: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:0005892	acetylcholine-gated channel complex	IC	cellular component
GO:0015464	acetylcholine receptor activity	IDA	molecular function
GO:0035095	behavioral response to nicotine	IMP	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0022848	acetylcholine-gated cation-selective channel activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray