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

Gene ID: 1140, updated on 23-Nov-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
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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_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7445061..7457710)
RS_2023_10 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 ATAC-STARR-seq lymphoblastoid active region 11620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7341479-7342387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7342641-7343174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8120 Neighboring gene transmembrane protein 102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8121 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 ATAC-STARR-seq lymphoblastoid silent region 8122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11623 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 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 IBA
Inferred from Biological aspect of Ancestor
more info
 
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

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

  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_10

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)