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FLASH GENE

Symbol

CHRNB1

contributors: mct - updated : 12-01-2016

HGNC name	cholinergic receptor, nicotinic, beta 1 (muscle)
HGNC id	1961

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMS2A congenital myasthenic syndrome, type IIB CMS2C myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency
Location	17p13.1      Physical location : 7.348.405 - 7.360.931
Synonym name	acetylcholine receptor protein, beta chain precursor
	cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)
Synonym symbol(s)	CHRNB, ACHRB, SCCMS, CMS1D

DNA

TYPE	functioning gene
STRUCTURE	12.53 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map

see CHRNE

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000747 11 - 2437 NP_000738 - 501 - -

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a large N terminal extracellular domain, and AAs in the extracellular domain show relatively weak changes in interactions with the local environment during channel gating
	four transmembrane (4TM) segments with the M2 domain comprising the cation-selective pore

HOMOLOGY

interspecies

ortholog to murine Chrnb1

Homologene

FAMILY

cholinergic receptor family

CATEGORY

receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular

basic FUNCTION	cholinergic receptor, nicotinic
	ligand gated ion channel activity
	involved in muscle contraction and in synaptic transmission
	after binding acetylcholine, involved in opening of an ion-conducting channel across the plasma membrane (through an extensive change in conformation that affects all
	subunits )
	is passive in the transfer of the energy of binding from the extracellular domain (ECD) to the channel gate

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	cation transport

PATHWAY

metabolism

signaling

signal transduction

a component

beta polypeptide component of the muscle acetylcholine receptor, composed of five subunits (two alpha, one beta, one gamma or epsilon, and one delta)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMS2A , CMS2C

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in benign and malignant mixed odontogenic tumours

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS