CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle) [Homo sapiens] - Gene

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Summary

Official Symbol: CHRNB1provided by HGNC
Official Full Name: cholinergic receptor, nicotinic, beta 1 (muscle)provided by HGNC
Primary source: HGNC:1961
See related: Ensembl:ENSG00000170175; HPRD:01156; MIM:100710; Vega:OTTHUMG00000108139
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: ACHRB; CHRNB; CMS1D; CMS2A; SCCMS; FLJ57107
Summary: The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 17p13.1

Sequence :: Chromosome: 17; NC_000017.10 (7348406..7360932)

See CHRNB1 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

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

Extracellular beta1-beta2 and cysteine-loops bridge the pre-M1 transmembrane domain and M2-M3 linker to transduce agonist binding into channel gating.
Title: Binding to gating transduction in nicotinic receptors: Cys-loop energetically couples to pre-M1 and M2-M3 regions.
Observational study of gene-disease association. (HuGE Navigator)
Title: Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence.
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.
the beta1 subunit showed significantly increased expression in lung tumors as compared to non-tumor bronchial tissue
Title: Nicotine activates cell-signaling pathways through muscle-type and neuronal nicotinic acetylcholine receptors in non-small cell lung cancer cells.
Association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence.
Title: Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence.

Submit: New GeneRIF Correction

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

MIM: 608931

Myasthenic syndrome, slow-channel congenital

MIM: 601462

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
P11230	Q7L5N1	COPS6		HPRD	PubMed
P11230	Q13702	RAPSN		HPRD	PubMed

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

Process	Evidence Code	Pubs
behavioral response to nicotine	IMP Inferred from Mutant Phenotype more info	PubMed
cation transport	IMP Inferred from Mutant Phenotype more info	PubMed
ion transmembrane transport	IEA Inferred from Electronic Annotation more info
muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
neurological system process	IMP Inferred from Mutant Phenotype more info	PubMed
neuromuscular synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
postsynaptic membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of membrane potential	ISS Inferred from Sequence or Structural Similarity more info
signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
synaptic transmission, cholinergic	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
acetylcholine-gated channel complex	IMP Inferred from Mutant Phenotype more info	PubMed
cell junction	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	NAS Non-traceable Author Statement more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info
postsynaptic membrane	IEA Inferred from Electronic Annotation more info
synapse	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

Preferred Names: acetylcholine receptor subunit beta

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

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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_008026.1 RefSeqGene

Range

5001..17527

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000747.2 → NP_000738.2 acetylcholine receptor subunit beta precursor

Status: REVIEWED

Source sequence(s)

BC011371, BC023553

Consensus CDS

CCDS11106.1

UniProtKB/Swiss-Prot

P11230

UniProtKB/TrEMBL

Q8IZ46

Related

ENSP00000304290, OTTHUMP00000135278, ENST00000306071, OTTHUMT00000226942

Conserved Domains (3) summary

TIGR00860
Location:24 – 488
Blast Score: 560

LIC; Cation transporter family protein

pfam02931
Location:27 – 245
Blast Score: 579

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:252 – 487
Blast Score: 551

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_000017.10 Reference GRCh37.p5 Primary Assembly

Range

7348406..7360932

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

7242351..7254625

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC113189.11 (95168..107694)	None
genomic	CH471108.2	EAW90186.1
mRNA	AK294880.1	BAH11912.1
mRNA	AK298938.1	BAH12907.1
mRNA	AK308106.1	None
mRNA	BC011371.1	AAH11371.1
mRNA	BC023553.2	AAH23553.1
mRNA	X14830.1	CAA32939.1
other-genetic	DQ894641.2	ABM85567.1