CHRNB1 cholinergic receptor nicotinic beta 1 subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHRNB1provided by HGNC
Official Full Name: cholinergic receptor nicotinic beta 1 subunitprovided by HGNC
Primary source: HGNC:HGNC:1961
See related: Ensembl:ENSG00000170175 MIM:100710; AllianceGenome:HGNC:1961
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; CMS2C; SCCMS
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]
Expression: Ubiquitous expression in adrenal (RPKM 6.4), placenta (RPKM 6.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (7445061..7457710)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (7349120..7361750)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (7348380..7361029)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis.
Title: Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis.
CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.
Title: CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.
Study traced the cause of congenital myasthenia syndrome in unrelated patients with dominant missense mutations in the M2 domain of AChR. A valine residue is replaced by a smaller alanine either in the epsilon subunit or an equivalent position in the beta one. Also, each valine in the valine ring was found to contribute to channel kinetics equally, and the valine ring has bee optimized during evolution to govern channe...
Title: Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.
This study reports on the presence of the CHRNB1 at the cellular level in human skeletal muscle and placenta and that mRNA expression mirrors that of protein within cell types.
Title: Cellular protein and mRNA expression of β1 nicotinic acetylcholine receptor (nAChR) subunit in brain, skeletal muscle and placenta.
These findings identify novel Golgi retention signals in the beta and delta subunit loops that regulate surface trafficking of assembled AChR and may help prevent surface expression of unassembled subunits.
Title: Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor.
Single nucleotide polymorphisms , rs55633891 (alpha9, C>T) and rs17856697 (beta1, A>G), did not exhibit a significant trend to be associated with cervical lesions.
Title: Association of single nucleotide polymorphisms of nicotinic acetylcholine receptor subunits with cervical neoplasia.
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.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital myasthenic syndrome 2A MedGen: C4225374 OMIM: 616313 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs
Congenital myasthenic syndrome 2C MedGen: C4225373 OMIM: 616314 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:9484

IB1796 (e-PCR)
- UniSTS:57377

D8S2279 (e-PCR)
- UniSTS:473907

FGF11_2203 (e-PCR)
- UniSTS:280669

GDB:186812 (e-PCR)
- UniSTS:155506

GDB:186817 (e-PCR)
- UniSTS:155507

AFM238WF2 (e-PCR)
- UniSTS:2683

RH78385 (e-PCR)
- UniSTS:85126

G30483 (e-PCR)
- UniSTS:67493

D11S2612 (e-PCR)
- UniSTS:70572

STS-X14830 (e-PCR)
- UniSTS:77777

STS-W57641 (e-PCR)
- UniSTS:27106

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylcholine binding	ISS Inferred from Sequence or Structural Similarity more info
contributes_to acetylcholine receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables acetylcholine-gated monoatomic cation-selective channel activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to acetylcholine-gated monoatomic cation-selective channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ligand-gated monoatomic ion channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA Inferred from Direct Assay more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in acetylcholine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in behavioral response to nicotine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in membrane depolarization	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic cation transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in postsynaptic membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic transmission, cholinergic	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of acetylcholine-gated channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of acetylcholine-gated channel complex	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in synapse	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: acetylcholine receptor subunit beta

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

NCBI Reference Sequences (RefSeq)

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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

4975..17624

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000747.3 → NP_000738.2 acetylcholine receptor subunit beta precursor

See identical proteins and their annotated locations for NP_000738.2

Status: REVIEWED

Source sequence(s)

AC113189, BC011371, BC023553

Consensus CDS

CCDS11106.1

UniProtKB/Swiss-Prot

B7Z5H1, P11230, Q8IZ46, Q96FB8

Related

ENSP00000304290.2, ENST00000306071.7

Conserved Domains (2) summary

pfam02931
Location:27 → 245

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:252 → 487

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region