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FLASH GENE

Symbol

CHRNA1

contributors: mct - updated : 12-01-2016

HGNC name	cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)
HGNC id	1955

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMS1A congenital myasthenic syndrome, type I A MPTLT3 multiple pterygium syndrome, lethal type 3
Location	2q31.1      Physical location : 175.612.322 - 175.629.200
Synonym name	nicotinic acetlycholine receptor
	nicotinic acetylcholine receptor alpha subunit
Synonym symbol(s)	CHRNA, ACHRA, ACHRD, FCCMS, SCCMS, nAChRA1

DNA

TYPE	functioning gene
STRUCTURE	16.88 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text

a second transcript produced by the insertion of a novel exon coding for 25 amino acids (Beeson 90) in human muscle the CHRNA1 subunit is found in two isoforms, one being homologous to that expressed in other species, and the other containing an exon termed P3A (PMID: 19609914) harbors an inframe exon P3A, and inclusion of exon P3A disables assembly of the acetylcholine receptor subunits (PMID: 24121633)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001039523 10 - 2094 NP_001034612 - 482 expressed in the normal and in nonneoplastic thymus glands of myasthenic patients, but is absent or rarely expressed14 in thymomas 2013 24121633 transcript with exon P3A, P3A(+), harboring 25 extra AAs and inserted between codons 58 and 59 in the extracellular domain of the alpha subunit NM_000079 9 - 2019 NP_000070 - 457 - 2013 24121633 transcript without exon P3A, P3A(& 8722;), encoding a functional alpha subunit that incorporates into functional AChR at the endplate

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth tongue     specific Respiratory respiratory tract larynx     moderately

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 including two agonist binding sites
	four transmembrane segments (4TM) with the M2 domain comprising the cation-selective pore

conjugated

GlycoP

mono polymer

heteromer , pentamer

HOMOLOGY

interspecies	ortholog to rattus Chrna1
	ortholog to murine Chrna1

Homologene

FAMILY	cholinergic receptor family
	ligand-gated ionic channel (TC 1.A.9) family

CATEGORY

receptor membrane , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	postsynaptic membrane
	integral to membrane

basic FUNCTION	ligand gated ion channel
	involved in muscle contraction
	target of pathogenic auto-antibodies in autoimmune myasthenia gravis
	fibroblast CHRNA1 binds urokinase and promotes renal fibrosis
	is an important regulator of calpain-1 activation and inflammation in the chronic hypercholesterolemic nephropathy
	plays a significant role at the artery wall, and reducing its expression decreases aortic plaque development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	ion transport

PATHWAY

metabolism

signaling

a component

pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains

INTERACTION

DNA

RNA

small molecule	other,
	acetylcholine (producing an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane)

protein	binding IRF8
	caveolin-3 is a critical component of the signaling machinery that drives CHRNA1 clustering and controls neuromuscular junction function
	AGRN induces association of CHRNA1 mRNA and nicotinic acetylcholine receptor in C2C12 myotubes
	HNRNPL and HNRNPLL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMS1A , MPTLT3

Susceptibility

to autoimmune myasthenia

Variant & Polymorphism other	a functional bi-allelic variant in the promoter that is associated with early onset of autoimmune myasthenia (variant prevents binding of IRF8 and abrogates CHRNA1 promoter activity in thymic epithelial cells)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

AChR-alpha mRNA is over-expressed in muscle from mice with moderate to severe myasthenia gravis