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Aliases for CHRNB1 Gene

Aliases for CHRNB1 Gene

  • Cholinergic Receptor Nicotinic Beta 1 Subunit 2 3
  • Cholinergic Receptor, Nicotinic Beta 1 2 3 5
  • Cholinergic Receptor, Nicotinic, Beta Polypeptide 1 (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic, Beta 1 (Muscle) 2 3
  • CHRNB 3 4
  • ACHRB 3 4
  • Acetylcholine Receptor, Nicotinic, Beta 1 (Muscle) 3
  • Acetylcholine Receptor 2
  • Beta 1 (Muscle) 2
  • Nicotinic 2
  • CMS2A 3
  • SCCMS 3
  • CMS1D 3
  • CMS2C 3

External Ids for CHRNB1 Gene

Previous HGNC Symbols for CHRNB1 Gene

  • CHRNB

Previous GeneCards Identifiers for CHRNB1 Gene

  • GC17M007754
  • GC17P008078
  • GC17P007292
  • GC17P007548
  • GC17P007289
  • GC17P007348
  • GC17P007458
  • GC17P007470

Summaries for CHRNB1 Gene

Entrez Gene Summary for CHRNB1 Gene

  • 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]

GeneCards Summary for CHRNB1 Gene

CHRNB1 (Cholinergic Receptor Nicotinic Beta 1 Subunit) is a Protein Coding gene. Diseases associated with CHRNB1 include myasthenic syndrome, congenital, 2a, slow-channel and myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency. Among its related pathways are AMPK Enzyme Complex Pathway and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include extracellular ligand-gated ion channel activity and channel activity. An important paralog of this gene is CHRNA3.

UniProtKB/Swiss-Prot for CHRNB1 Gene

  • After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Gene Wiki entry for CHRNB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNB1 Gene

Genomics for CHRNB1 Gene

Regulatory Elements for CHRNB1 Gene

Promoters for CHRNB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHRNB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHRNB1 Gene

Chromosome:
17
Start:
7,445,061 bp from pter
End:
7,457,707 bp from pter
Size:
12,647 bases
Orientation:
Plus strand

Genomic View for CHRNB1 Gene

Genes around CHRNB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRNB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRNB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNB1 Gene

Proteins for CHRNB1 Gene

  • Protein details for CHRNB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11230-ACHB_HUMAN
    Recommended name:
    Acetylcholine receptor subunit beta
    Protein Accession:
    P11230
    Secondary Accessions:
    • B7Z5H1
    • Q8IZ46
    • Q96FB8

    Protein attributes for CHRNB1 Gene

    Size:
    501 amino acids
    Molecular mass:
    56698 Da
    Quaternary structure:
    • Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains.

    Alternative splice isoforms for CHRNB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNB1 Gene

Proteomics data for CHRNB1 Gene at MOPED

Post-translational modifications for CHRNB1 Gene

  • Glycosylation at Asn 164
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNB1 Gene

No data available for DME Specific Peptides for CHRNB1 Gene

Domains & Families for CHRNB1 Gene

Gene Families for CHRNB1 Gene

Graphical View of Domain Structure for InterPro Entry

P11230

UniProtKB/Swiss-Prot:

ACHB_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-1/CHRNB1 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-1/CHRNB1 sub-subfamily.
genes like me logo Genes that share domains with CHRNB1: view

Function for CHRNB1 Gene

Molecular function for CHRNB1 Gene

GENATLAS Biochemistry:
cholinergic receptor,nicotinic,beta 1 polypeptide,muscle
UniProtKB/Swiss-Prot Function:
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Gene Ontology (GO) - Molecular Function for CHRNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0015267 channel activity IMP 8872460
GO:0015464 contributes_to acetylcholine receptor activity IMP 8651643
genes like me logo Genes that share ontologies with CHRNB1: view
genes like me logo Genes that share phenotypes with CHRNB1: view

Human Phenotype Ontology for CHRNB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CHRNB1 Gene

Localization for CHRNB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNB1 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHRNB1 Gene COMPARTMENTS Subcellular localization image for CHRNB1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CHRNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHRNB1: view

Pathways & Interactions for CHRNB1 Gene

genes like me logo Genes that share pathways with CHRNB1: view

Pathways by source for CHRNB1 Gene

1 KEGG pathway for CHRNB1 Gene
2 Qiagen pathways for CHRNB1 Gene

Gene Ontology (GO) - Biological Process for CHRNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006936 muscle contraction IMP 8651643
GO:0007165 signal transduction IMP 8872460
GO:0007271 synaptic transmission, cholinergic IMP 8872460
GO:0007274 neuromuscular synaptic transmission IMP 8651643
genes like me logo Genes that share ontologies with CHRNB1: view

No data available for SIGNOR curated interactions for CHRNB1 Gene

Drugs & Compounds for CHRNB1 Gene

(1) Drugs for CHRNB1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Galantamine Approved Pharma Target, allosteric modulator 103
genes like me logo Genes that share compounds with CHRNB1: view

Transcripts for CHRNB1 Gene

Unigene Clusters for CHRNB1 Gene

Cholinergic receptor, nicotinic, beta 1 (muscle):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHRNB1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: - - -
SP2: - - - -
SP3: -
SP4: - -
SP5:
SP6:
SP7:

Relevant External Links for CHRNB1 Gene

GeneLoc Exon Structure for
CHRNB1
ECgene alternative splicing isoforms for
CHRNB1

Expression for CHRNB1 Gene

mRNA expression in normal human tissues for CHRNB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHRNB1 Gene

This gene is overexpressed in Muscle - Skeletal (x18.0).

Protein differential expression in normal tissues from HIPED for CHRNB1 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CHRNB1 Gene



SOURCE GeneReport for Unigene cluster for CHRNB1 Gene Hs.330386

genes like me logo Genes that share expression patterns with CHRNB1: view

Protein tissue co-expression partners for CHRNB1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for CHRNB1 Gene

Orthologs for CHRNB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHRNB1 35
  • 99.53 (n)
  • 99.2 (a)
CHRNB1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNB1 35
  • 90.43 (n)
  • 93.18 (a)
CHRNB1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNB1 36
  • 78 (a)
OneToOne
CHRNB1 35
  • 88.84 (n)
  • 91.79 (a)
mouse
(Mus musculus)
Mammalia Chrnb1 36
  • 90 (a)
OneToOne
Chrnb1 16
Chrnb1 35
  • 86.35 (n)
  • 90.53 (a)
oppossum
(Monodelphis domestica)
Mammalia CHRNB1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNB1 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrnb1 35
  • 85.53 (n)
  • 89.71 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398048 35
zebrafish
(Danio rerio)
Actinopterygii chrnb1 36
  • 60 (a)
OneToMany
chrnb1l 36
  • 55 (a)
OneToMany
chrnb1 35
  • 61.2 (n)
  • 61.47 (a)
fruit fly
(Drosophila melanogaster)
Insecta nAcRbgr-64B 37
  • 39 (a)
nAcRbeta-64B 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acr-2 36
  • 29 (a)
ManyToMany
acr-3 36
  • 32 (a)
ManyToMany
lev-1 36
  • 32 (a)
ManyToMany
unc-29 36
  • 32 (a)
ManyToMany
acr-14 37
  • 31 (a)
lev-1 37
  • 35 (a)
unc-29 37
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for CHRNB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CHRNB1 Gene

ENSEMBL:
Gene Tree for CHRNB1 (if available)
TreeFam:
Gene Tree for CHRNB1 (if available)

Paralogs for CHRNB1 Gene

genes like me logo Genes that share paralogs with CHRNB1: view

Variants for CHRNB1 Gene

Sequence variations from dbSNP and Humsavar for CHRNB1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_000287 Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A)
VAR_000288 Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A)
VAR_048169 -
rs17856698 - 7,447,059(+) ATTTT(G/T)ACGTG reference, missense
rs2302762 -- 7,455,542(+) TGCTC(C/T)CGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHRNB1 Gene

Variant ID Type Subtype PubMed ID
esv2422288 CNV Deletion 17116639
nsv457659 CNV Loss 19166990
nsv523672 CNV Loss 19592680
dgv3054n71 CNV Loss 21882294

Variation tolerance for CHRNB1 Gene

Residual Variation Intolerance Score: 49.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.91; 79.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHRNB1 Gene

HapMap Linkage Disequilibrium report
CHRNB1
Human Gene Mutation Database (HGMD)
CHRNB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNB1 Gene

Disorders for CHRNB1 Gene

MalaCards: The human disease database

(23) MalaCards diseases for CHRNB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

ACHB_HUMAN
  • Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. {ECO:0000269 PubMed:8651643, ECO:0000269 PubMed:8872460}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CMS2C) [MIM:616314]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. CMS2C is clinically characterized by early-onset muscle weakness with variable severity. {ECO:0000269 PubMed:10562302}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHRNB1

Genetic Association Database (GAD)
CHRNB1
Human Genome Epidemiology (HuGE) Navigator
CHRNB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHRNB1
genes like me logo Genes that share disorders with CHRNB1: view

No data available for Genatlas for CHRNB1 Gene

Publications for CHRNB1 Gene

  1. Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence. (PMID: 16874522) Lou X.Y. … Li M.D. (Hum. Genet. 2006) 3 23 48 67
  2. Determinants in the I^ and I' subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor. (PMID: 24240098) Rudell J.C. … Ferns M.J. (J. Biol. Chem. 2014) 3
  3. Association of single nucleotide polymorphisms of nicotinic acetylcholine receptor subunits with cervical neoplasia. (PMID: 22406075) Calleja-Macias I. … Bernard H.U. (Life Sci. 2012) 3
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3
  5. Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the FagerstrAPm test for nicotine dependence. (PMID: 20736995) Wessel J. … Bergen A.W. (Neuropsychopharmacology 2010) 3

Products for CHRNB1 Gene

Sources for CHRNB1 Gene

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