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Gene

chrnb1

ID
ZDB-GENE-070821-4
Name
cholinergic receptor, nicotinic, beta 1 (muscle)
Symbol
chrnb1 Nomenclature History
Previous Names
  • AChR beta1b (1)
Type
protein_coding_gene
Location
Chr: 7 Mapping Details/Browsers
Description
Contributes to acetylcholine receptor activity. Acts upstream of or within cholinergic synaptic transmission. Part of acetylcholine-gated channel complex. Is expressed in skeletal muscle. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 2A and congenital myasthenic syndrome 2C. Orthologous to human CHRNB1 (cholinergic receptor nicotinic beta 1 subunit).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With chrnb1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital myasthenic syndrome 2A Alliance Myasthenic syndrome, congenital, 2A, slow-channel 616313
congenital myasthenic syndrome 2C Alliance ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency 616314
Associated With chrnb1 Via Experimental Models
No data available
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:A0A2R8QQX6 492
UniProtKB:A0A2R8Q792 492
UniProtKB:G3KGY2 492
UniProtKB:G1FMP8 492
UniProtKB:E7F892 492
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