Gene

chrna1

ID
ZDB-GENE-980526-137
Name
cholinergic receptor, nicotinic, alpha 1 (muscle)
Symbol
chrna1 Nomenclature History
Previous Names
  • AChR alpha 1 (1)
  • nic-1 (1)
  • nic1
  • nic
  • nicotinic receptor
  • zgc:86593
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
Description
Exhibits cation channel activity. Contributes to acetylcholine binding activity and acetylcholine receptor activity. Involved in several processes, including chemical synaptic transmission; chondrocyte intercalation involved in growth plate cartilage morphogenesis; and skeletal muscle fiber development. Localizes to acetylcholine-gated channel complex. Is expressed in adaxial cell; musculature system; and somite. Used to study congenital myasthenic syndrome. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 1A and congenital myasthenic syndrome 1B. Orthologous to human CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
36 figures from 21 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
23 figures from 10 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With chrna1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital myasthenic syndrome 1A Alliance Myasthenic syndrome, congenital, 1A, slow-channel 601462
congenital myasthenic syndrome 1B Alliance Myasthenic syndrome, congenital, 1B, fast-channel 608930
multiple pterygium syndrome Alliance Multiple pterygium syndrome, lethal type 253290
Associated With chrna1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018000 Neurotransmitter-gated ion-channel, conserved site
Domain IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
Domain IPR006202 Neurotransmitter-gated ion-channel ligand-binding domain
Family IPR002394 Nicotinic acetylcholine receptor
Family IPR006201 Neurotransmitter-gated ion-channel
Homologous_superfamily IPR036719 Neurotransmitter-gated ion-channel transmembrane domain superfamily
Homologous_superfamily IPR036734 Neurotransmitter-gated ion-channel ligand-binding domain superfamily
Domain Details Per Protein
Protein Length Neurotransmitter-gated ion-channel Neurotransmitter-gated ion-channel, conserved site Neurotransmitter-gated ion-channel ligand-binding domain Neurotransmitter-gated ion-channel ligand-binding domain superfamily Neurotransmitter-gated ion-channel transmembrane domain Neurotransmitter-gated ion-channel transmembrane domain superfamily Nicotinic acetylcholine receptor
UniProtKB:Q98880 456
UniProtKB:E9QGW8 152
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations