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

    Gene ID: 1140, updated on 7-Sep-2023

    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
    NEW
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    Genomic context

    See CHRNB1 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7445061..7457710)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7349120..7361750)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7348380..7361029)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7339659-7340568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7341479-7342387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7342641-7343174 Neighboring gene transmembrane protein 102 Neighboring gene fibroblast growth factor 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7359010-7359511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7368787-7369309 Neighboring gene zinc finger and BTB domain containing 4 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7386897-7387891 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7387892-7388885 Neighboring gene solute carrier family 35 member G6 Neighboring gene RNA polymerase II subunit A Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:7405086-7406285 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7414586-7415785

    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 Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ57107

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    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
    PubMed 
    involved_in excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    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
    PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of membrane potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 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
    PubMed 
    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
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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
      4975..17624
      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
      B7Z5H1, P11230, Q8IZ46, Q96FB8
      Related
      ENSP00000304290.2, ENST00000306071.7
      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: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7445061..7457710
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107299.1 Reference GRCh38.p14 PATCHES

      Range
      65518..78167
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7349120..7361750
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)