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

Gene ID: 1140, updated on 5-Dec-2018

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
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

Genomic context

See CHRNB1 in Genome Data Viewer
Location:
17p13.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (7445087..7457613)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7348406..7360932)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 102 Neighboring gene fibroblast growth factor 11 Neighboring gene zinc finger and BTB domain containing 4 Neighboring gene solute carrier family 35 member G6 Neighboring gene RNA polymerase II subunit A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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 Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ57107

Gene Ontology Provided by GOA

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 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle fiber development IMP
Inferred from Mutant Phenotype
more info
PubMed 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nervous system process IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of membrane potential ISS
Inferred from Sequence or Structural Similarity
more info
 
response to nicotine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal muscle contraction IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission, cholinergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic transmission, cholinergic IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
acetylcholine-gated channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetylcholine-gated channel complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell junction IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction EXP
Inferred from Experiment
more info
PubMed 
neuromuscular junction IDA
Inferred from Direct Assay
more info
PubMed 
neuromuscular junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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)

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

  1. NG_008026.1 RefSeqGene

    Range
    5001..17527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000747.3NP_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
    P11230
    Related
    ENSP00000304290.2, ENST00000306071.6
    Conserved Domains (2) summary
    pfam02931
    Location:27245
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:252487
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    7445087..7457613
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107299.1 Reference GRCh38.p12 PATCHES

    Range
    65544..78070
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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