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Chrna1 Gene Detail
Summary
  • Symbol
    Chrna1
  • Name
    cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)
  • Synonyms
    Achr-1, Acra
  • Feature Type
    protein coding gene
  • IDs
    MGI:87885
    NCBI Gene: 11435
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr2:73563215-73580338 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17124 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 43.76 cM
  • Mapping Data
    50 experiments
Homology
more
  • Human Ortholog
    CHRNA1, cholinergic receptor nicotinic alpha 1 subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CHRNA1, cholinergic receptor nicotinic alpha 1 subunit
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ACHRA, ACHRD, CHRNA, CMS1A, CMS1B, CMS2A, FCCMS, SCCMS
  • Links
    NCBI Gene ID: 1134
    neXtProt AC: NX_P02708
    UniProt: P02708

  • Chr Location
    2q31.1; chr2:174747592-174764472 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 59
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CHRNA1
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with human CHRNA1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 2 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    24 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit neonatal lethality, kyphosis, carpotosis, absent miniature and nerve-evoked endplant potential, increased motor neuron number, and abnormal neuromuscular synapse.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000013434 VEGA Gene Model | MGI Sequence Detail 17124 C57BL/6J ±  kb
    transcript OTTMUST00000032468 VEGA | MGI Sequence Detail 4386 Not Applicable  
    polypeptide OTTMUSP00000014418 VEGA | MGI Sequence Detail 457 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      138 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000005453 acetylcholine receptor subunit alpha
    • PDB
    • InterPro Domains
      IPR006201 Neurotransmitter-gated ion-channel
      IPR018000 Neurotransmitter-gated ion-channel, conserved site
      IPR006202 Neurotransmitter-gated ion-channel ligand-binding domain
      IPR036734 Neurotransmitter-gated ion-channel ligand-binding domain superfamily
      IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
      IPR036719 Neurotransmitter-gated ion-channel transmembrane domain superfamily
      IPR002394 Nicotinic acetylcholine receptor
    Molecular
    Reagents
    less
    • All nucleic 40
      cDNA 35
      Primer pair 1
      Other 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1036, MGD-MRK-1054, MGI:2138920, MGI:2139021
    References
    more
    • Summaries
      All 187
      Developmental Gene Expression 37
      Gene Ontology 14
      Phenotypes 24
    • Earliest
      J:263579 Porter CW, et al., The ultrastructural localization and quantitation of cholinergic receptors at the mouse motor endplate. J Membr Biol. 1973;14(4):383-402
    • Latest
      J:263025 Zoupa M, et al., Gene expression profiling in the developing secondary palate in the absence of Tbx1 function. BMC Genomics. 2018 Jun 4;19(1):429

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory