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Aliases for CHRNB1 Gene

Aliases for CHRNB1 Gene

  • Cholinergic Receptor, Nicotinic, Beta 1 (Muscle) 2 3
  • ACHRB 3 4 6
  • Cholinergic Receptor, Nicotinic, Beta Polypeptide 1 (Muscle) 2 3
  • CMS1D 3 6
  • CMS2A 3 6
  • SCCMS 3 6
  • CHRNB 3 4
  • Acetylcholine Receptor, Nicotinic, Beta 1 (Muscle) 3
  • Acetylcholine Receptor Subunit Beta 3
  • Acetylcholine Receptor 2
  • Beta 1 (Muscle) 2
  • Nicotinic 2

External Ids for CHRNB1 Gene

Previous Symbols for CHRNB1 Gene

  • CHRNB

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 (Muscle)) is a Protein Coding gene. Diseases associated with CHRNB1 include chrnb1-related congenital myasthenic syndrome and congenital myasthenic syndrome. Among its related pathways are Nanog in Mammalian ESC Pluripotency and AMPK Enzyme Complex Pathway. GO annotations related to this gene include acetylcholine-activated cation-selective 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

Genomic Location for CHRNB1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHRNB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNB1 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn164

Other Protein References for CHRNB1 Gene

No data available for DME Specific Peptides for CHRNB1 Gene

Domains for CHRNB1 Gene

Gene Families for CHRNB1 Gene

HGNC:
  • CHRN :Ligand-gated ion channels / Acetylcholine receptors, nicotinic
  • CHR :Cholinergic receptors
IUPHAR :

UniProtKB/Swiss-Prot:

ACHB_HUMAN
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.:
    • P11230
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:0004889 contributes_to acetylcholine-activated cation-selective channel activity ISS --
GO:0005230 extracellular ligand-gated ion channel activity --
GO:0005515 protein binding --
GO:0015267 channel activity IMP 8872460
GO:0015276 ligand-gated ion channel activity ISS --
genes like me logo Genes that share ontologies with CHRNB1: view

Phenotypes for CHRNB1 Gene

MGI mutant phenotypes for CHRNB1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with CHRNB1: view

miRNA for CHRNB1 Gene

miRTarBase miRNAs that target CHRNB1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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:0005886 plasma membrane --
GO:0005887 integral component of plasma membrane NAS 8872460
GO:0005892 acetylcholine-gated channel complex IMP 8872460
GO:0016020 membrane --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with CHRNB1: view

Pathways for CHRNB1 Gene

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

Pathways by source for CHRNB1 Gene

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

Gene Ontology (GO) - Biological Process for CHRNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001941 postsynaptic membrane organization IMP 8651643
GO:0003009 skeletal muscle contraction IEA --
GO:0006810 transport --
GO:0006811 ion transport --
GO:0006812 cation transport IMP 8872460
genes like me logo Genes that share ontologies with CHRNB1: view

Compounds for CHRNB1 Gene

(1) Drugbank Compounds for CHRNB1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Galantamine
  • (-)-Galanthamine
357-70-0 target allosteric modulator
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 (18.0).

Integrated Proteomics: protein expression 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 expressions with CHRNB1: view

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 36
  • 99.53 (n)
  • 99.2 (a)
CHRNB1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNB1 36
  • 90.43 (n)
  • 93.18 (a)
CHRNB1 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNB1 36
  • 88.84 (n)
  • 91.79 (a)
CHRNB1 37
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrnb1 36
  • 86.35 (n)
  • 90.53 (a)
Chrnb1 16
Chrnb1 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHRNB1 37
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNB1 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrnb1 36
  • 85.53 (n)
  • 89.71 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398048 36
zebrafish
(Danio rerio)
Actinopterygii chrnb1 36
  • 61.2 (n)
  • 61.47 (a)
chrnb1 37
  • 60 (a)
OneToMany
chrnb1l 37
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta nAcRbeta-64B 37
  • 35 (a)
OneToMany
nAcRbgr-64B 38
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea acr-2 37
  • 29 (a)
ManyToMany
acr-3 37
  • 32 (a)
ManyToMany
lev-1 37
  • 32 (a)
ManyToMany
unc-29 37
  • 32 (a)
ManyToMany
lev-1 38
  • 35 (a)
acr-14 38
  • 31 (a)
unc-29 38
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs2302761 -- 7,455,201(+) ATGGG(C/T)ATGTG intron-variant
rs2302762 -- 7,455,542(+) TGCTC(C/T)CGGAA intron-variant
rs2302763 -- 7,455,958(+) GGGGG(C/T)GGAAC intron-variant
rs2302764 -- 7,456,791(+) AGCCC(C/T)ATCCT utr-variant-3-prime
rs2302765 Benign 7,447,656(-) TGCCT(A/G)CTCAC 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

Relevant External Links for CHRNB1 Gene

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

Disorders for CHRNB1 Gene

(2) OMIM Diseases for CHRNB1 Gene (100710)

UniProtKB/Swiss-Prot

ACHB_HUMAN
  • Myasthenic syndrome, congenital, slow-channel (SCCMS) [MIM:601462]: A common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by 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. Congenital myasthenic syndrome slow-channel type is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes. {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, associated with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]: A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. {ECO:0000269 PubMed:10562302}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for CHRNB1 Gene

Relevant External Links for CHRNB1

GeneTests
CHRNB1
GeneReviews
CHRNB1
Genetic Association Database (GAD)
CHRNB1
Human Genome Epidemiology (HuGE) Navigator
CHRNB1
genes like me logo Genes that share disorders with CHRNB1: view

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 49
  2. Nucleotide sequence of human muscle acetylcholine receptor beta- subunit. (PMID: 2740233) Beeson D.M.W. … Newsom-Davis J. (Nucleic Acids Res. 1989) 3 4
  3. A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome. (PMID: 8651643) Gomez C.M. … Kuncl R.W. (Ann. Neurol. 1996) 3 4
  4. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. (PMID: 8872460) Engel A.G. … Sine S.M. (Hum. Mol. Genet. 1996) 3 4
  5. Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. (PMID: 10562302) Quiram P.A. … Engel A.G. (J. Clin. Invest. 1999) 3 4

Products for CHRNB1 Gene

Sources for CHRNB1 Gene

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