Homo sapiens Gene: CHRNB1
Summary
InnateDB Gene IDBG-25079.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CHRNB1
Gene Name cholinergic receptor, nicotinic, beta 1 (muscle)
Synonyms ACHRB; CHRNB; CMS1D; CMS2A; SCCMS;
Species Homo sapiens
Ensembl Gene ENSG00000170175
Encoded Proteins
cholinergic receptor, nicotinic, beta 1 (muscle)
cholinergic receptor, nicotinic, beta 1 (muscle)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:7445061-7457707
Strand Forward strand
Band p13.1
Transcripts
ENST00000306071 ENSP00000304290
ENST00000536404 ENSP00000439209
ENST00000572857 ENSP00000461402
ENST00000574054
ENST00000570557 ENSP00000460648
ENST00000575379 ENSP00000461751
ENST00000573209
ENST00000576360 ENSP00000459092
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004889 acetylcholine-activated cation-selective channel activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0005515 protein binding
GO:0015267 channel activity
GO:0015276 ligand-gated ion channel activity
GO:0015464 acetylcholine receptor activity
GO:0042166 acetylcholine binding
Biological Process
GO:0001941 postsynaptic membrane organization
GO:0003009 skeletal muscle contraction
GO:0006810 transport
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:0055085 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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Neuroactive ligand-receptor interaction pathway
INOH
PID BIOCARTA
Role of nicotinic acetylcholine receptors in the regulation of apoptosis [Biocarta view]
PID NCI
Cross-References
SwissProt
TrEMBL I3L535
UniProt Splice Variant
Entrez Gene 1140
UniGene Hs.330386
RefSeq NM_000747
HUGO HGNC:1961
OMIM 100710
CCDS CCDS11106
HPRD 01156
IMGT
EMBL AC113189
GenPept
RNA Seq Atlas 1140