CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: CHRNA1provided by HGNC
Official Full Name: cholinergic receptor, nicotinic, alpha 1 (muscle)provided by HGNC
Primary source: HGNC:1955
See related: Ensembl:ENSG00000138435; HPRD:00007; MIM:100690; Vega:OTTHUMG00000132357
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACHRA; ACHRD; CHRNA; CMS2A; FCCMS; SCCMS
Summary: The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha isoforms and 1 each of beta, gamma, and delta subunits.2 This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Help top of page

Genomic context

Location :: 2q31.1

Sequence :: Chromosome: 2; NC_000002.11 (175612320..175629200, complement)

See CHRNA1 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Studies suggest that the receptor nAChRalpha1 is an important regulator of calpain-1 activation and inflammation in the chronic hypercholesterolemic nephropathy.
Title: Nicotinic acetylcholine receptor α1 promotes calpain-1 activation and macrophage inflammation in hypercholesterolemic nephropathy.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Presence of heterogeneous nuclear ribonucleoprotein H-binding motif in CHRNA1 close to the 3' end of an intron is an essential but underestimated splicing regulator of the downstream exon.
Title: hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.
study reports homozygous nonsense mutations in CHRNA1 and CHRND and shows that they were lethal
Title: Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Observational study of gene-disease association. (HuGE Navigator)
Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence.
Title: Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
Here we describe a mechanism controlling thymic transcription of a prototypic tissue-restricted human auto-antigen gene, CHRNA1
Title: An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.
DNA analysis of a father and son with dominant fast channel congenital myasthenic syndrome revealed an AChR alpha-subunit F256L missense mutation affecting channel gating
Title: Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.

Submit: New GeneRIF Correction See all (14)

Help top of page

Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 binds to nicotinic acetylcholine receptors in muscle cells and neurons	PubMed

Go to the HIV-1, Human Protein Interaction Database

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
P02708	Q07001	CHRND	HPRD	PubMed
P02708	Q04844	CHRNE	HPRD	PubMed
P02708	P07510	CHRNG	HPRD	PubMed
P02708	Q13683	ITGA7	HPRD	PubMed
BioGRID:107556	BioGRID:107566	CHRND	BioGRID	PubMed	Co-fractionation; Reconstituted Complex
BioGRID:107556	BioGRID:107567	CHRNE	BioGRID	PubMed	Reconstituted Complex
BioGRID:107556	BioGRID:107568	CHRNG	BioGRID	PubMed	Co-fractionation
BioGRID:107556	BioGRID:109885	ITGA7	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
contributes_to acetylcholine binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
contributes_to acetylcholine receptor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acetylcholine-activated cation-selective channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to acetylcholine-activated cation-selective channel activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
extracellular ligand-gated ion channel activity	IEA Inferred from Electronic Annotation more info
ion channel activity	IEA Inferred from Electronic Annotation more info
receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
ion transport	IEA Inferred from Electronic Annotation more info
muscle cell homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
musculoskeletal movement	IMP Inferred from Mutant Phenotype more info	PubMed
neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
neuromuscular synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
neuron homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of action potential in neuron	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
signal transduction	TAS Traceable Author Statement more info	PubMed
skeletal muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
skeletal muscle tissue growth	IMP Inferred from Mutant Phenotype more info	PubMed
synaptic transmission	TAS Traceable Author Statement more info
transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
acetylcholine-gated channel complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed
cell junction	IEA Inferred from Electronic Annotation more info
cell surface	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
neuromuscular junction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
postsynaptic membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

Preferred Names: acetylcholine receptor subunit alpha

Names: acetylcholine receptor subunit alpha; nicotinic cholinergic receptor alpha 1; muscle nicotinic acetylcholine receptor; nicotinic acetylcholine receptor alpha subunit; acetylcholine receptor, nicotinic, alpha 1 (muscle); cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)

Help top of page

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008172.1 RefSeqGene

Range

5001..21881

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000079.3 → NP_000070.1 acetylcholine receptor subunit alpha isoform b precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (b), that is missing an internal segment compared to isoform a.

Source sequence(s)

AK315312, BC043196, Y00762

Consensus CDS

CCDS2261.1

UniProtKB/Swiss-Prot

P02708

UniProtKB/TrEMBL

Q53SH4

Related

ENSP00000261008, OTTHUMP00000163187, ENST00000348749, OTTHUMT00000255479

Conserved Domains (3) summary

TIGR00860
Location:21 – 447
Blast Score: 627

LIC; Cation transporter family protein

pfam02931
Location:24 – 231
Blast Score: 718

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:238 – 446
Blast Score: 450

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_001039523.2 → NP_001034612.1 acetylcholine receptor subunit alpha isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).

Source sequence(s)

AK315312, BC043196, CD013889

Consensus CDS

CCDS33331.1

UniProtKB/Swiss-Prot

P02708

UniProtKB/TrEMBL

Q53SH4

Related

ENSP00000261007, OTTHUMP00000205172, ENST00000261007, OTTHUMT00000334116

Conserved Domains (3) summary

TIGR00860
Location:21 – 472
Blast Score: 592

LIC; Cation transporter family protein

pfam02931
Location:24 – 256
Blast Score: 685

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:263 – 471
Blast Score: 449

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

175612320..175629200, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

167492831..167509717, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC018890.13	AAY14687.1
genomic	CH471058.2	EAX11124.1
		EAX11125.1
		EAX11126.1
		EAX11127.1
		EAX11128.1
genomic	X02502.1	CAA26344.1
genomic	X17104.1	CAA34960.1
genomic	X70108.1	CAA49705.1
mRNA	AK291338.1	BAF84027.1
mRNA	AK299445.1	BAG61418.1
mRNA	AK315312.1	BAG37716.1
mRNA	BC006314.2	None
mRNA	BC043196.2	None
mRNA	BG828551.1	None
mRNA	CD013889.1	None
mRNA	DQ323657.1	ABD27888.1
mRNA	DQ323658.1	ABD27889.1
mRNA	S77094.1	AAD14247.1
mRNA	Y00762.1	CAA68731.1