ENSMUSG00000027107


Mus musculus

Features
Gene ID: ENSMUSG00000027107
  
Biological name :Chrna1
  
Synonyms : cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle) / Chrna1 / P04756
  
Possible biological names infered from orthology : cholinergic receptor nicotinic alpha 1 subunit / P02708
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: C3
Gene start: 73563215
Gene end: 73580338
  
Corresponding Affymetrix probe sets: 10483706 (MoGene1.0st)   1418852_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000028515
NCBI entrez gene - 11435     See in Manteia.
MGI - MGI:87885
RefSeq - NM_007389
RefSeq Peptide - NP_031415
swissprot - P04756
swissprot - Q05A24
Ensembl - ENSMUSG00000027107
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 chrna1ENSDARG00000009021Danio rerio
 CHRNA1ENSGALG00000009301Gallus gallus
 CHRNA1ENSG00000138435Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Chrna4 / O70174 / cholinergic receptor, nicotinic, alpha polypeptide 4 / P43681* / cholinergic receptor nicotinic alpha 4 subunit*ENSMUSG0000002757750
Chrna3 / cholinergic receptor, nicotinic, alpha polypeptide 3 / P32297* / cholinergic receptor nicotinic alpha 3 subunit*ENSMUSG0000003230349
Chrna2 / Q91X60 / cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal) / Q15822* / cholinergic receptor nicotinic alpha 2 subunit*ENSMUSG0000002204147
Chrna6 / Q9R0W9 / cholinergic receptor, nicotinic, alpha polypeptide 6 / Q15825* / cholinergic receptor nicotinic alpha 6 subunit*ENSMUSG0000003149146
Chrnb2 / Q9ERK7 / cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) / P17787* / cholinergic receptor nicotinic beta 2 subunit*ENSMUSG0000002795043
Chrna5 / Q2MKA5 / cholinergic receptor, nicotinic, alpha polypeptide 5 / P30532* / cholinergic receptor nicotinic alpha 5 subunit*ENSMUSG0000003559443
Chrnb3 / Q8BMN3 / cholinergic receptor, nicotinic, beta polypeptide 3 / Q05901* / cholinergic receptor nicotinic beta 3 subunit*ENSMUSG0000003149242
Chrnb4 / Q8R493 / cholinergic receptor, nicotinic, beta polypeptide 4 / P30926* / cholinergic receptor nicotinic beta 4 subunit*ENSMUSG0000003520040


Protein motifs (from Interpro)
Interpro ID Name
 IPR002394  Nicotinic acetylcholine receptor
 IPR006029  Neurotransmitter-gated ion-channel transmembrane domain
 IPR006201  Neurotransmitter-gated ion-channel
 IPR006202  Neurotransmitter-gated ion-channel ligand-binding domain
 IPR018000  Neurotransmitter-gated ion-channel, conserved site
 IPR036719  Neurotransmitter-gated ion-channel transmembrane domain superfamily
 IPR036734  Neurotransmitter-gated ion-channel ligand-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003009 skeletal muscle contraction IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006812 cation transport IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007271 synaptic transmission, cholinergic IBA
 biological_processGO:0007274 neuromuscular synaptic transmission IEA
 biological_processGO:0007528 neuromuscular junction development IEA
 biological_processGO:0019228 neuronal action potential IEA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0035094 response to nicotine IBA
 biological_processGO:0042391 regulation of membrane potential IEA
 biological_processGO:0046716 muscle cell cellular homeostasis IEA
 biological_processGO:0048630 skeletal muscle tissue growth IEA
 biological_processGO:0050881 musculoskeletal movement IEA
 biological_processGO:0050905 neuromuscular process IEA
 biological_processGO:0060078 regulation of postsynaptic membrane potential IEA
 biological_processGO:0060079 excitatory postsynaptic potential IEA
 biological_processGO:0070050 neuron cellular homeostasis IEA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005892 acetylcholine-gated channel complex IEA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0031594 neuromuscular junction IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005230 extracellular ligand-gated ion channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015464 acetylcholine receptor activity IDA
 molecular_functionGO:0022848 acetylcholine-gated cation-selective channel activity ISO
 molecular_functionGO:0042166 acetylcholine binding IGI


Pathways (from Reactome)
Pathway description
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Ecel1tm1Hiki/Ecel1tm1Hiki
Genetic Background: B6.129-Ecel1tm1Hiki

 MP:0001052 abnormal muscle innervation "malfomation or misprojection of sensory or motor nerves to targets in muscle" [J:75958]
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Allelic Composition: Ecel1tm1Hiki/Ecel1tm1Hiki
Genetic Background: B6.129-Ecel1tm1Hiki

 MP:0001053 abnormal neuromuscular synapse "malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]
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Allelic Composition: Ecel1tm1Hiki/Ecel1tm1Hiki
Genetic Background: B6.129-Ecel1tm1Hiki

 MP:0001054 failure of presynaptic differentiation "inability of nerve terminals to find target and/or form terminal arbors for synaptic transmission" [J:61509]
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Allelic Composition: Agrntm4Jrs/Agrntm4Jrs,Chrna1tm1Klee/Chrna1tm1Klee,Chrna7tm1Bay/Chrna7tm1Bay
Genetic Background: involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6

 MP:0002058 neonatal lethality "death of animal within one day after birth" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ecel1tm1Hiki/Ecel1tm1Hiki
Genetic Background: B6.129-Ecel1tm1Hiki

 MP:0002914 abnormal endplate potential activity "defect in the excitatory response of peripheral synapses to stimulation; these amplitudes are larger than central synapse potentials" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Ecel1tm1Hiki/Ecel1tm1Hiki
Genetic Background: B6.129-Ecel1tm1Hiki

 MP:0004835 abnormal miniature endplate potential "defect in the size or duration of spontaneous currents detected in PNS postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ecel1tm1Hiki/Ecel1tm1Hiki
Genetic Background: B6.129-Ecel1tm1Hiki

 MP:0005162 carpoptosis "paralysis of the extensors of the wrist and fingers; most often caused by a lesion of the radial nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:81738]
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Allelic Composition: Ecel1tm1Hiki/Ecel1tm1Hiki
Genetic Background: B6.129-Ecel1tm1Hiki

 MP:0005192 increased motor neuron number "greater than the normal number of cells that innervate an effector (muscle or glandular) tissue" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Ecel1tm1Hiki/Ecel1tm1Hiki
Genetic Background: B6.129-Ecel1tm1Hiki

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Cbx2tm1b(KOMP)Wtsi/Cbx2+
Genetic Background: C57BL/6N-Cbx2tm1b(KOMP)Wtsi/H

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000027107 Chrna1 / P04756 / cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle) / P02708* / cholinergic receptor nicotinic alpha 1 subunit*  / complex






 

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