Human Gene CHRNB1 (uc002ghb.3)
  Description: Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA.
RefSeq Summary (NM_000747): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:7,348,406-7,360,932 Size: 12,527 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr17:7,348,447-7,360,042 Size: 11,596 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:7,348,406-7,360,932)mRNA (may differ from genome)Protein (501 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ACHB_HUMAN
DESCRIPTION: RecName: Full=Acetylcholine receptor subunit beta; Flags: Precursor;
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.
SUBUNIT: Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains.
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
DISEASE: Defects in CHRNB1 are a cause of congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]. SCCMS is the most 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. SCCMS is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes.
DISEASE: Defects in CHRNB1 are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]. CMS-ACHRD is a postsynaptic congenital myasthenic syndrome. Mutations underlying AChR deficiency cause a 'loss of function' and show recessive inheritance.
SIMILARITY: 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.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRNB1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CHRNB1
CDC HuGE Published Literature: CHRNB1
Positive Disease Associations: nicotine
Related Studies:
  1. nicotine
    Lou, X. Y. et al. 2006, Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence, Hum Genet 2006 120(3) 381-9. [PubMed 16874522]

-  MalaCards Disease Associations
  MalaCards Gene Search: CHRNB1
Diseases sorted by gene-association score: myasthenic syndrome, congenital, 2a, slow-channel* (1231), myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency* (970), myasthenic syndrome, congenital, 1a, slow-channel* (283), postsynaptic congenital myasthenic syndromes* (106), chrnb1-related congenital myasthenic syndrome* (100), slow-channel congenital myasthenic syndrome (21), congenital myasthenic syndrome (15), escobar syndrome (10), neuromuscular junction disease (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 40.34 RPKM in Muscle - Skeletal
Total median expression: 204.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.5041-0.476 Picture PostScript Text
3' UTR -301.32890-0.339 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006202 - Neur_chan_lig-bd
IPR006201 - Neur_channel
IPR006029 - Neurotrans-gated_channel_TM
IPR018000 - Neurotransmitter_ion_chnl_CS
IPR002394 - Nicotinic_acetylcholine_rcpt

Pfam Domains:
PF02931 - Neurotransmitter-gated ion-channel ligand binding domain
PF02932 - Neurotransmitter-gated ion-channel transmembrane region

SCOP Domains:
63712 - Nicotinic receptor ligand binding domain-like
90112 - Neurotransmitter-gated ion-channel transmembrane pore

ModBase Predicted Comparative 3D Structure on P11230
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0005216 ion channel activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0015267 channel activity
GO:0015276 ligand-gated ion channel activity
GO:0022848 acetylcholine-gated cation-selective channel activity
GO:0042166 acetylcholine binding
GO:0015464 acetylcholine receptor activity

Biological Process:
GO:0001941 postsynaptic membrane organization
GO:0003009 skeletal muscle contraction
GO:0006811 ion transport
GO:0006812 cation transport
GO:0006936 muscle contraction
GO:0007165 signal transduction
GO:0007271 synaptic transmission, cholinergic
GO:0007274 neuromuscular synaptic transmission
GO:0034220 ion transmembrane transport
GO:0035095 behavioral response to nicotine
GO:0042391 regulation of membrane potential
GO:0048747 muscle fiber development
GO:0050877 neurological system process
GO:0060078 regulation of postsynaptic membrane potential
GO:0060079 excitatory postsynaptic potential
GO:0098655 cation transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005892 acetylcholine-gated channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0045202 synapse
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  AB209390 - Homo sapiens mRNA for fibroblast growth factor 11 variant protein.
BC023553 - Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle), mRNA (cDNA clone MGC:19706 IMAGE:3531876), complete cds.
AK308106 - Homo sapiens cDNA, FLJ98054.
BC011371 - Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle), mRNA (cDNA clone MGC:9005 IMAGE:3874415), complete cds.
X14830 - Human mRNA for muscle acetylcholine receptor beta-subunit.
DQ894641 - Synthetic construct Homo sapiens clone IMAGE:100009101; FLH177167.01L; RZPDo839D11123D cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1) gene, encodes complete protein.
KJ890914 - Synthetic construct Homo sapiens clone ccsbBroadEn_00308 CHRNB1 gene, encodes complete protein.
KR709709 - Synthetic construct Homo sapiens clone CCSBHm_00005313 CHRNB1 (CHRNB1) mRNA, encodes complete protein.
KR709710 - Synthetic construct Homo sapiens clone CCSBHm_00005314 CHRNB1 (CHRNB1) mRNA, encodes complete protein.
KR709711 - Synthetic construct Homo sapiens clone CCSBHm_00005315 CHRNB1 (CHRNB1) mRNA, encodes complete protein.
AK298938 - Homo sapiens cDNA FLJ52354 complete cds, highly similar to Acetylcholine receptor protein subunit beta precursor.
AK294880 - Homo sapiens cDNA FLJ57107 complete cds, highly similar to Acetylcholine receptor protein subunit beta precursor.
JD134599 - Sequence 115623 from Patent EP1572962.
JD408688 - Sequence 389712 from Patent EP1572962.
JD483593 - Sequence 464617 from Patent EP1572962.
JD069244 - Sequence 50268 from Patent EP1572962.
JD127273 - Sequence 108297 from Patent EP1572962.
JD348464 - Sequence 329488 from Patent EP1572962.
JD351354 - Sequence 332378 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction

BioCarta from NCI Cancer Genome Anatomy Project
h_achPathway - Role of nicotinic acetylcholine receptors in the regulation of apoptosis

-  Other Names for This Gene
  Alternate Gene Symbols: ACHB_HUMAN, ACHRB, CHRNB, NM_000747, NP_000738, P11230, Q96FB8
UCSC ID: uc002ghb.3
RefSeq Accession: NM_000747
Protein: P11230 (aka ACHB_HUMAN)
CCDS: CCDS11106.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CHRNB1:
cms (Congenital Myasthenic Syndromes Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000747.2
exon count: 11CDS single in 3' UTR: no RNA size: 2437
ORF size: 1506CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2988.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.