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 generation of neurons. Localizes to acetylcholine-gated channel complex. Used to study congenital myasthenic syndrome. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 1A and congenital myasthenic syndrome 1B. Is expressed in adaxial cell; musculature system; and somite. Orthologous to human CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

38 figures from 23 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
mRNA	chrna1-202 (1) Ensembl	Ensembl	560 nt	Select Tool
ncRNA	chrna1-002 (1) Ensembl	Ensembl	799 nt	Select Tool

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