InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-25083

cholinergic receptor, nicotinic, beta 1 (muscle)

IDBP-593656

cholinergic receptor, nicotinic, beta 1 (muscle)

IDBP-763704

IDBP-759091

IDBP-762114

IDBP-759753

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

ENSMUSG00000041189

View Gene Order

ENSBTAG00000019242

Not yet available

Pathways

NETPATH

REACTOME

KEGG

hsa04080

Neuroactive ligand-receptor interaction pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

I3L1T7 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