ZFIN ID: ZDB-GENE-070821-4
Gene Name: cholinergic receptor, nicotinic, beta 1 (muscle)
Gene Symbol: chrnb1    Nomenclature History

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Previous Name: AChR beta1b (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 7 Mapping Details/Browsers
Description: Contributes to acetylcholine receptor activity. Involved in cholinergic synaptic transmission. Localizes to 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: Alliance (1),  Gene:100006941 (1),  Ensembl(GRCz11):ENSDARG00000069660 (1)
GENE EXPRESSION
All Expression Data: 2 figures from 2 publications
Wild-type Stages, Structures: Pharyngula:Prim-5 (24.0h-30.0h) to Adult (90d-730d, breeding adult)
 
MUTATIONS AND SEQUENCE TARGETING REAGENTS No data available
PHENOTYPE No data available
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
DISEASE ASSOCIATED WITH chrnb1 VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process synaptic transmission, cholinergic (more)
Cellular Component acetylcholine-gated channel complex (more)
Molecular Function CONTRIBUTES_TO   acetylcholine receptor activity (more)
GO Terms (all 22)
PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA chrnb1-201 (1)    Ensembl 4412
ncRNA chrnb1-002 (1)    Ensembl 990
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM chrnb1 No data available
MARKER RELATIONSHIPS
chrnb1 Contained in: [BAC] DKEY-112A7 (order this)
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA RefSeq:NM_001253810 (1) 1479 nt
Genomic GenBank:CR352295 (1) 119970 nt
Select Tool
Polypeptide UniProtKB:A0A2R8Q792 (1) 492 aa
Sequence Information (all 15)
ORTHOLOGY for chrnb1 ( Chr: 7 )
CITATIONS (19)