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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
  • 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 2
  • Alpha 1 (Muscle) 2
  • Nicotinic 2
  • CMS1B 3
  • CMS2A 3
  • FCCMS 3
  • SCCMS 3
  • ACHRD 3
  • CMS1A 3
  • CHRNA 3
  • CHNRA 4

External Ids for CHRNA1 Gene

Previous HGNC Symbols for CHRNA1 Gene

  • CHRNA

Previous GeneCards Identifiers for CHRNA1 Gene

  • GC02M173665
  • GC02M174273
  • GC02M175576
  • GC02M175815
  • GC02M175814
  • GC02M175437
  • GC02M175320
  • GC02M175612
  • GC02M167492

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 myasthenic syndrome, congenital, 1a, slow-channel and myasthenic syndrome, congenital, 1b, fast-channel. Among its related pathways are CREB Pathway and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include ion channel activity and acetylcholine-activated cation-selective channel 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

Regulatory Elements for CHRNA1 Gene

Genomic Location for CHRNA1 Gene

Chromosome:
2
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

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

  • Glycosylation at Asn 186
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNA1 Gene

Antibody Products

No data available for DME Specific Peptides for CHRNA1 Gene

Domains & Families for CHRNA1 Gene

Gene Families for CHRNA1 Gene

Graphical View of Domain Structure for InterPro Entry

P02708

UniProtKB/Swiss-Prot:

ACHA_HUMAN :
  • 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.
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.
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:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHRNA1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 & Interactions for CHRNA1 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for CHRNA1 Gene

Is activated by:

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

Drugs & Compounds for CHRNA1 Gene

(52) Drugs for CHRNA1 Gene - From: ApexBio, DGIdb, IUPHAR, DrugBank, and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mecamylamine Approved Pharma Channel blocker, antagonist 25
Pancuronium Approved Pharma Antagonist, antagonist 0
Succinylcholine Approved Pharma Full agonist, Agonist, antagonist 123
Galantamine Approved Pharma Target, allosteric modulator 102
Acetylcysteine Approved Pharma Antioxidant;mucolytic agent 280

(5) Additional Compounds for CHRNA1 Gene - From: NovoSeek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
alpha-bungarotoxin
Antagonist
[<sup>125</sup>I]alpha-bungarotoxin
[<sup>3</sup>H]alpha-bungarotoxin
alpha-conotoxin GI
Antagonist
alpha-conotoxin MI
Antagonist
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHRNA1

Flow Cytometry Products

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 (x48.7).

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 expression patterns with CHRNA1: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for CHRNA1 Gene

Orthologs for CHRNA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHRNA1 35
  • 92.85 (n)
  • 96.72 (a)
CHRNA1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNA1 35
  • 91.98 (n)
  • 96.28 (a)
CHRNA1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrna1 35
  • 88.91 (n)
  • 94.31 (a)
Chrna1 16
Chrna1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHRNA1 35
  • 98.41 (n)
  • 97.93 (a)
CHRNA1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrna1 35
  • 88.18 (n)
  • 93.87 (a)
oppossum
(Monodelphis domestica)
Mammalia CHRNA1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNA1 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHRNA1 35
  • 80.37 (n)
  • 86.22 (a)
CHRNA1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRNA1 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chrna1 35
  • 72.15 (n)
  • 78.22 (a)
MGC76192 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.1117 35
zebrafish
(Danio rerio)
Actinopterygii chrna1 35
  • 72.89 (n)
  • 79.73 (a)
chrna1 36
  • 77 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-30D 37
  • 30 (a)
nAcRalpha-7E 37
  • 48 (a)
nAcRalpha-80B 37
  • 37 (a)
nAcRalpha-96Aa 37
  • 49 (a)
nAcRalpha-96Ab 37
  • 47 (a)
nAcRbgr-21C 37
  • 29 (a)
nAcRbgr-96A 37
  • 42 (a)
nAcRalpha-7E 36
  • 26 (a)
OneToMany
nAcRalpha-80B 36
  • 37 (a)
OneToMany
nAcRalpha-96Aa 36
  • 35 (a)
OneToMany
nAcRalpha-96Ab 36
  • 33 (a)
OneToMany
nAcRbeta-96A 36
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acr-12 37
  • 42 (a)
acr-13 37
  • 30 (a)
acr-17 37
  • 33 (a)
acr-18 37
  • 24 (a)
acr-2 37
  • 40 (a)
acr-3 37
  • 35 (a)
acr-5 37
  • 27 (a)
acr-8 37
  • 32 (a)
deg-3 37
  • 29 (a)
F11C7.1 37
  • 27 (a)
F18G5.4 37
  • 31 (a)
lev-1 37
  • 37 (a)
unc-38 37
  • 39 (a)
unc-63 37
  • 42 (a)
ZK973.5 37
  • 35 (a)
acr-12 36
  • 30 (a)
OneToMany
acr-6 36
  • 27 (a)
OneToMany
acr-8 36
  • 30 (a)
OneToMany
lev-8 36
  • 29 (a)
OneToMany
unc-38 36
  • 38 (a)
OneToMany
unc-63 36
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

Variation tolerance for CHRNA1 Gene

Residual Variation Intolerance Score: 23.77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.36; 53.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHRNA1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNA1 Gene

Disorders for CHRNA1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for CHRNA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

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.
  • Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [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. CMS1A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. {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, 1B, fast-channel (CMS1B) [MIM:608930]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and 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. CMS1B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, 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.
  • 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.

Relevant External Links for CHRNA1

Genetic Association Database (GAD)
CHRNA1
Human Genome Epidemiology (HuGE) Navigator
CHRNA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHRNA1
genes like me logo Genes that share disorders with CHRNA1: view

No data available for Genatlas for CHRNA1 Gene

Publications for CHRNA1 Gene

  1. A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. (PMID: 19300482) Pillai S.G. … Goldstein D.B. (PLoS Genet. 2009) 23 67
  2. The effect of memantine and levodopa/carbidopa on the responses of phrenic nerve-diaphragm preparations from aged rats. (PMID: 19865051) El-Moursy S.A. … Rashed L. (Med. Sci. Monit. 2009) 23 67
  3. Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome. (PMID: 19147685) Bian Y. … Ohno K. (Hum. Mol. Genet. 2009) 23 67
  4. Genome-wide association studies: what do they teach us about asthma and chronic obstructive pulmonary disease? (PMID: 20008879) Boezen H.M. (Proc Am Thorac Soc 2009) 23 67
  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) 23 67

Products for CHRNA1 Gene

Sources for CHRNA1 Gene

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