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Aliases for CHRNA1 Gene

Aliases for CHRNA1 Gene

  • Cholinergic Receptor, Nicotinic, Alpha 1 (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic, Alpha Polypeptide 1 (Muscle) 2 3
  • CMS2A 3 6
  • FCCMS 3 6
  • SCCMS 3 6
  • ACHRD 3 6
  • ACHRA 3 4
  • Acetylcholine Receptor, Nicotinic, Alpha 1 (Muscle) 3
  • Nicotinic Acetylcholine Receptor Alpha Subunit 3
  • Muscle Nicotinic Acetylcholine Receptor 3
  • Nicotinic Cholinergic Receptor Alpha 1 3
  • Acetylcholine Receptor Subunit Alpha 3
  • Acetylcholine Receptor 2
  • Alpha 1 (Muscle) 2
  • Nicotinic 2
  • CHRNA 3
  • CHNRA 4

External Ids for CHRNA1 Gene

Previous Symbols for CHRNA1 Gene

  • CHRNA

Summaries for CHRNA1 Gene

Entrez Gene Summary for CHRNA1 Gene

  • The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]

GeneCards Summary for CHRNA1 Gene

CHRNA1 (Cholinergic Receptor, Nicotinic, Alpha 1 (Muscle)) is a Protein Coding gene. Diseases associated with CHRNA1 include chrna1-related congenital myasthenic syndrome and chrna1-related multiple pterygium syndrome, lethal type. Among its related pathways are CREB Pathway and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and acetylcholine receptor activity. An important paralog of this gene is CHRNA3.

UniProtKB/Swiss-Prot for CHRNA1 Gene

  • 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

Gene Wiki entry for CHRNA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNA1 Gene

Genomics for CHRNA1 Gene

Genomic Location for CHRNA1 Gene

Start:
174,747,592 bp from pter
End:
174,764,472 bp from pter
Size:
16,881 bases
Orientation:
Minus strand

Genomic View for CHRNA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHRNA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNA1 Gene

Regulatory Elements for CHRNA1 Gene

Proteins for CHRNA1 Gene

  • Protein details for CHRNA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02708-ACHA_HUMAN
    Recommended name:
    Acetylcholine receptor subunit alpha
    Protein Accession:
    P02708
    Secondary Accessions:
    • B4DRV6
    • D3DPE8

    Protein attributes for CHRNA1 Gene

    Size:
    482 amino acids
    Molecular mass:
    54546 Da
    Quaternary structure:
    • Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains

    Three dimensional structures from OCA and Proteopedia for CHRNA1 Gene

    Alternative splice isoforms for CHRNA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNA1 Gene

Proteomics data for CHRNA1 Gene at MOPED

Post-translational modifications for CHRNA1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn186

Other Protein References for CHRNA1 Gene

No data available for DME Specific Peptides for CHRNA1 Gene

Domains for CHRNA1 Gene

Gene Families for CHRNA1 Gene

HGNC:
  • CHRN :Ligand-gated ion channels / Acetylcholine receptors, nicotinic
  • CHR :Cholinergic receptors
IUPHAR :

UniProtKB/Swiss-Prot:

ACHA_HUMAN
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-1/CHRNA1 sub-subfamily.:
    • P02708
genes like me logo Genes that share domains with CHRNA1: view

Function for CHRNA1 Gene

Molecular function for CHRNA1 Gene

GENATLAS Biochemistry: cholinergic receptor,nicotinic,alpha 1 polypeptide,muscle
UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Molecular Function for CHRNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004889 contributes_to acetylcholine-activated cation-selective channel activity ISS 8872460
GO:0005216 ion channel activity TAS 6688857
GO:0005230 extracellular ligand-gated ion channel activity --
GO:0005515 protein binding --
GO:0015464 contributes_to acetylcholine receptor activity ISS 8872460
genes like me logo Genes that share ontologies with CHRNA1: view
genes like me logo Genes that share phenotypes with CHRNA1: view

Animal Models for CHRNA1 Gene

MGI Knock Outs for CHRNA1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CHRNA1 Gene

Localization for CHRNA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNA1 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHRNA1 Gene COMPARTMENTS Subcellular localization image for CHRNA1 gene
Compartment Confidence
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for CHRNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005892 acetylcholine-gated channel complex ISS 8872460
GO:0009986 cell surface IDA 12928480
GO:0016020 membrane --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with CHRNA1: view

Pathways for CHRNA1 Gene

genes like me logo Genes that share pathways with CHRNA1: view

Gene Ontology (GO) - Biological Process for CHRNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IMP 8872460
GO:0006810 transport TAS 7619526
GO:0006811 ion transport --
GO:0006812 cation transport --
GO:0007165 signal transduction TAS 7619526
genes like me logo Genes that share ontologies with CHRNA1: view

Compounds for CHRNA1 Gene

(2) Drugbank Compounds for CHRNA1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Agmatine
306-60-5 target antagonist
Galantamine
  • (-)-Galanthamine
357-70-0 target allosteric modulator

(10) IUPHAR Ligand for CHRNA1 Gene

Ligand Type Action Affinity Pubmed IDs
mecamylamine Channel blocker None 6.41
gallamine Channel blocker None 6
alpha-conotoxin GI Antagonist Antagonist
succinylcholine Agonist Full agonist
pancuronium Antagonist Antagonist
alpha-bungarotoxin Antagonist Antagonist
waglerin-1 Antagonist Antagonist
[125I]alpha-bungarotoxin None None
alpha-conotoxin MI Antagonist Antagonist
[3H]alpha-bungarotoxin None None

(3) Novoseek inferred chemical compound relationships for CHRNA1 Gene

Compound -log(P) Hits PubMed IDs
alpha-bungarotoxin 75.9 3
acetylcholine 56 6
nicotine 27.7 1
genes like me logo Genes that share compounds with CHRNA1: view

Transcripts for CHRNA1 Gene

Unigene Clusters for CHRNA1 Gene

Cholinergic receptor, nicotinic, alpha 1 (muscle):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHRNA1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - - - - -
SP5: - - - -
SP6: -
SP7:

Relevant External Links for CHRNA1 Gene

GeneLoc Exon Structure for
CHRNA1
ECgene alternative splicing isoforms for
CHRNA1

Expression for CHRNA1 Gene

mRNA expression in normal human tissues for CHRNA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHRNA1 Gene

This gene is overexpressed in Muscle - Skeletal (48.7).

SOURCE GeneReport for Unigene cluster for CHRNA1 Gene Hs.434479

mRNA Expression by UniProt/SwissProt for CHRNA1 Gene

P02708-ACHA_HUMAN
Tissue specificity: Isoform 1 is only expressed in skeletal muscle. Isoform 2 is constitutively expressed in skeletal muscle, brain, heart, kidney, liver, lung and thymus
genes like me logo Genes that share expressions with CHRNA1: view

Orthologs for CHRNA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHRNA1 36
  • 98.41 (n)
  • 97.93 (a)
CHRNA1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNA1 36
  • 92.85 (n)
  • 96.72 (a)
CHRNA1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNA1 36
  • 91.98 (n)
  • 96.28 (a)
CHRNA1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrna1 36
  • 88.91 (n)
  • 94.31 (a)
Chrna1 16
Chrna1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHRNA1 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNA1 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrna1 36
  • 88.18 (n)
  • 93.87 (a)
chicken
(Gallus gallus)
Aves CHRNA1 36
  • 80.37 (n)
  • 86.22 (a)
CHRNA1 37
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRNA1 37
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1117 36
tropical clawed frog
(Silurana tropicalis)
Amphibia chrna1 36
  • 72.15 (n)
  • 78.22 (a)
MGC76192 36
zebrafish
(Danio rerio)
Actinopterygii chrna1 36
  • 72.89 (n)
  • 79.73 (a)
chrna1 37
  • 77 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-7E 37
  • 26 (a)
OneToMany
nAcRalpha-80B 37
  • 37 (a)
OneToMany
nAcRalpha-96Aa 37
  • 35 (a)
OneToMany
nAcRalpha-96Ab 37
  • 33 (a)
OneToMany
nAcRbeta-96A 37
  • 37 (a)
OneToMany
nAcRalpha-96Aa 38
  • 49 (a)
nAcRalpha-96Ab 38
  • 47 (a)
nAcRalpha-30D 38
  • 30 (a)
nAcRbgr-96A 38
  • 42 (a)
nAcRbgr-21C 38
  • 29 (a)
nAcRalpha-80B 38
  • 37 (a)
nAcRalpha-7E 38
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea acr-12 37
  • 30 (a)
OneToMany
acr-6 37
  • 27 (a)
OneToMany
acr-8 37
  • 30 (a)
OneToMany
lev-8 37
  • 29 (a)
OneToMany
unc-38 37
  • 38 (a)
OneToMany
unc-63 37
  • 38 (a)
OneToMany
deg-3 38
  • 29 (a)
acr-2 38
  • 40 (a)
acr-13 38
  • 30 (a)
lev-1 38
  • 37 (a)
acr-5 38
  • 27 (a)
unc-63 38
  • 42 (a)
acr-3 38
  • 35 (a)
acr-12 38
  • 42 (a)
acr-18 38
  • 24 (a)
unc-38 38
  • 39 (a)
F18G5.4 38
  • 31 (a)
F11C7.1 38
  • 27 (a)
ZK973.5 38
  • 35 (a)
acr-17 38
  • 33 (a)
acr-8 38
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 38 (a)
OneToOne
Species with no ortholog for CHRNA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHRNA1 Gene

ENSEMBL:
Gene Tree for CHRNA1 (if available)
TreeFam:
Gene Tree for CHRNA1 (if available)

Paralogs for CHRNA1 Gene

genes like me logo Genes that share paralogs with CHRNA1: view

Variants for CHRNA1 Gene

Sequence variations from dbSNP and Humsavar for CHRNA1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs753193 -- 174,753,358(+) CGCAC(A/G)CCCAC intron-variant
rs1376865 -- 174,759,869(+) ACAAC(A/G)CTTGT intron-variant
rs1376866 -- 174,763,128(+) TAAAA(C/T)ACCCA intron-variant
rs1376867 -- 174,763,328(+) CGCGC(A/G)CGCAC intron-variant
rs1376868 -- 174,763,330(+) CGCGC(A/G)CACAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHRNA1 Gene

Variant ID Type Subtype PubMed ID
nsv470500 CNV Loss 18288195
nsv459948 CNV Loss 19166990
nsv875432 CNV Loss 21882294

Relevant External Links for CHRNA1 Gene

HapMap Linkage Disequilibrium report
CHRNA1
Human Gene Mutation Database (HGMD)
CHRNA1

Disorders for CHRNA1 Gene

(3) OMIM Diseases for CHRNA1 Gene (100690)

UniProtKB/Swiss-Prot

ACHA_HUMAN
  • Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]: Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. {ECO:0000269 PubMed:18252226}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=The alpha subunit is the main focus for antibody binding in myasthenia gravis. Myasthenia gravis is characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated by cranial nerves, and characteristically improved by cholinesterase-inhibiting drugs.
  • Myasthenic syndrome, congenital, slow-channel (SCCMS) [MIM:601462]: A 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. Congenital myasthenic syndrome slow-channel type is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes. {ECO:0000269 PubMed:16685696, ECO:0000269 PubMed:7619526, ECO:0000269 PubMed:8872460, ECO:0000269 PubMed:9158151, ECO:0000269 PubMed:9221765}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, fast-channel (FCCMS) [MIM:608930]: A congenital myasthenic syndrome characterized by kinetic abnormalities of the AChR. Due in most cases to mutations that decrease activity of the AChR by slowing the rate of opening of the receptor channel, speeding the rate of closure of the channel, or decreasing the number of openings of the channel during ACh occupancy. The result is failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. {ECO:0000269 PubMed:10195214, ECO:0000269 PubMed:12588888, ECO:0000269 PubMed:15079006}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CHRNA1 Gene

(1) Novoseek inferred disease relationships for CHRNA1 Gene

Disease -log(P) Hits PubMed IDs
myasthenia gravis 72.7 6

Relevant External Links for CHRNA1

GeneTests
CHRNA1
GeneReviews
CHRNA1
Genetic Association Database (GAD)
CHRNA1
Human Genome Epidemiology (HuGE) Navigator
CHRNA1
genes like me logo Genes that share disorders with CHRNA1: view

Publications for CHRNA1 Gene

  1. The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon. (PMID: 1694127) Beeson D. … Newsom-Davis J. (EMBO J. 1990) 3 4 23
  2. Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues. (PMID: 8441631) Talib S. … Lebkowski J.S. (Nucleic Acids Res. 1993) 3 4 23
  3. Human muscle acetylcholine receptor alpha-subunit gene (CHRNA1) association with autoimmune myasthenia gravis in black, mixed-ancestry and Caucasian subjects. (PMID: 8738961) Heckmann J.M. … Newsom-Davis J. (J. Autoimmun. 1996) 23 49
  4. An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus. (PMID: 17687331) Giraud M. … Garchon H.J. (Nature 2007) 3 23
  5. hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. (PMID: 18806275) Masuda A. … Ohno K. (Hum. Mol. Genet. 2008) 3 23

Products for CHRNA1 Gene

Sources for CHRNA1 Gene

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