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

Enables monoatomic cation channel activity. Contributes to acetylcholine binding activity and acetylcholine receptor activity. Acts upstream of or within several processes, including chemical synaptic transmission; chondrocyte intercalation involved in growth plate cartilage morphogenesis; and skeletal muscle fiber development. Part of 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

39 figures from 24 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

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
contractures, pterygia, and spondylocarpotarsal fusion syndrome	Alliance	Multiple pterygium syndrome, lethal type	253290

Associated With chrna1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
congenital myasthenic syndrome	chrna1^{dtbn12/dtbn12}	standard conditions	Walogorsky et al., 2012

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
Homologous_superfamily	IPR038050	Neuronal acetylcholine receptor

Domain Details Per Protein

Protein	Length	Neuronal acetylcholine receptor	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 InterPro	456

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	chrna1-201 (1) Ensembl	Ensembl	2,187 nt	Select Tool ZFIN BLAST
mRNA	chrna1-202 (1) Ensembl	Ensembl	560 nt	Select Tool ZFIN BLAST
ncRNA	chrna1-002 (1) Ensembl	Ensembl	799 nt	Select Tool ZFIN BLAST

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