CHRNA1 Gene (Protein Coding)

Cholinergic Receptor Nicotinic Alpha 1 Subunit

GC02M174747
GIFtS:
45
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] See more...

Aliases for CHRNA1 Gene

Aliases for CHRNA1 Gene

  • Cholinergic Receptor Nicotinic Alpha 1 Subunit 2 3 5
  • Cholinergic Receptor, Nicotinic, Alpha Polypeptide 1 (Muscle) 2 3
  • Acetylcholine Receptor, Nicotinic, Alpha 1 (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic, Alpha 1 (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic Alpha 1 2 3
  • Acetylcholine Receptor Subunit Alpha 3 4
  • ACHRA 3 4
  • Nicotinic Acetylcholine Receptor Alpha Subunit 3
  • Muscle Nicotinic Acetylcholine Receptor 3
  • Nicotinic Cholinergic Receptor Alpha 1 3
  • CHRNA1 5
  • ACHRD 3
  • CHRNA 3
  • CMS1A 3
  • CMS1B 3
  • CMS2A 3
  • FCCMS 3
  • SCCMS 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 Subunit) is a Protein Coding gene. Diseases associated with CHRNA1 include Myasthenic Syndrome, Congenital, 1B, Fast-Channel and Myasthenic Syndrome, Congenital, 1A, Slow-Channel. Among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include ion channel activity. An important paralog of this gene is CHRNA4.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for CHRNA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHRNA1 Gene

Genomics for CHRNA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CHRNA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHRNA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHRNA1

Top Transcription factor binding sites by QIAGEN in the CHRNA1 gene promoter:
  • CBF(2)
  • CBF-A
  • Chx10
  • Gfi-1
  • HNF-4alpha1
  • HNF-4alpha2
  • ITF-2
  • LUN-1
  • MyoD
  • Tal-1beta

Genomic Locations for CHRNA1 Gene

Genomic Locations for CHRNA1 Gene
chr2:174,747,592-174,787,935
(GRCh38/hg38)
Size:
40,344 bases
Orientation:
Minus strand
chr2:175,612,320-175,629,200
(GRCh37/hg19)
Size:
16,881 bases
Orientation:
Minus strand

Genomic View for CHRNA1 Gene

Genes around CHRNA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRNA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRNA1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CHRNA1 Gene

Proteins for CHRNA1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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. The muscle heteropentamer composed of alpha-1, beta-1, delta, epsilon subunits interacts with the alpha-conotoxin ImII (PubMed:15609996).
    SequenceCaution:
    • Sequence=CAA49705.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CHRNA1 Gene

    Alternative splice isoforms for CHRNA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNA1 Gene

Post-translational modifications for CHRNA1 Gene

  • Glycosylation at Asn186
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHRNA1 Gene

Domains & Families for CHRNA1 Gene

Gene Families for CHRNA1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins
  • Transporters

Protein Domains for CHRNA1 Gene

InterPro:
Blocks:
  • Nicotinic acetylcholine receptor signature
  • Neurotransmitter-gated ion-channel
ProtoNet:

Suggested Antigen Peptide Sequences for CHRNA1 Gene

GenScript: Design optimal peptide antigens:
  • Acetylcholine receptor subunit alpha (ACHA_HUMAN)
  • cDNA, FLJ96344, Homo sapiens cholinergic receptor, nicotinic, alpha polypeptide 1(muscle) (CHRNA1), mRNA (Q53SH4_HUMAN)

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CHRNA1 Gene

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.
GENATLAS Biochemistry:
cholinergic receptor,nicotinic,alpha 1 polypeptide,muscle

Phenotypes From GWAS Catalog for CHRNA1 Gene

Gene Ontology (GO) - Molecular Function for CHRNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005216 ion channel activity IEA,TAS 6688857
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0015464 contributes_to acetylcholine receptor activity TAS,ISS 8872460
GO:0022848 contributes_to acetylcholine-gated cation-selective channel activity IEA,ISS 8872460
genes like me logo Genes that share ontologies with CHRNA1: view
genes like me logo Genes that share phenotypes with CHRNA1: view

Human Phenotype Ontology for CHRNA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHRNA1 Gene

MGI Knock Outs for CHRNA1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRNA1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHRNA1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHRNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0005892 acetylcholine-gated channel complex ISS 8872460
GO:0009986 cell surface IEA,IDA 12928480
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

Pathways by source for CHRNA1 Gene

2 BioSystems pathways for CHRNA1 Gene
1 KEGG pathway for CHRNA1 Gene
5 Qiagen pathways for CHRNA1 Gene
  • Agrin Interactions at Neuromuscular Junction
  • AMPK Enzyme Complex Pathway
  • eNOS Signaling
  • Intracellular Calcium Signaling
  • nNOS Signaling in Skeletal Muscle

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 IEA,IMP 8872460
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0007165 signal transduction TAS,IBA 21873635
GO:0007268 chemical synaptic transmission IBA 21873635
genes like me logo Genes that share ontologies with CHRNA1: view

Drugs & Compounds for CHRNA1 Gene

Products:

  1. Drug

(96) Drugs for CHRNA1 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mecamylamine Approved, Investigational Pharma Channel blocker, antagonist 29
Pancuronium Approved Pharma Antagonist, antagonist 0
Succinylcholine Approved Pharma Agonist, Full agonist, antagonist 69
Lamotrigine Approved, Investigational Pharma Target, inhibitor 5-HT inhibitor 201
Acetylcysteine Approved, Investigational Pharma Antioxidant;mucolytic agent 427

(1) Additional Compounds for CHRNA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(82) ApexBio Compounds for CHRNA1 Gene

Compound Action Cas Number
(-)-Lobeline hydrochloride 134-63-4
(+)-Anabasine hydrochloride 53912-89-3
(+)-Tubocurarine chloride 57-94-3
(±)-Anatoxin A fumarate 1219922-30-1
(±)-Epibatidine dopamine receptor antagonist 148152-66-3
3-Bromocytisine 207390-14-5
Acetylcholine Chloride Major transmitter at many nervous sites 60-31-1
Acetylcysteine Antioxidant;mucolytic agent 616-91-1
Atropine MAChRs antagonist 5908-99-6
Benzethonium Chloride 121-54-0
Benzoquinonium dibromide inhibitor of AChR and ganglion 311-09-1
Bethanechol chloride Muscarinic receptor agonist 590-63-6
Carbamoylcholine chloride 51-83-2
Catestatin 142211-96-9
CCMI 917837-54-8
Chlorisondamine diiodide 96750-66-2
Decamethonium Bromide 541-22-0
Desformylflustrabromine hydrochloride 951322-11-5
Dihydro-β-erythroidine hydrobromide antagonist of nAChRs 29734-68-7
Diphemanil Methylsulfate 62-97-5
DMAB-anabaseine dihydrochloride 154149-38-9
EVP-6124 NAChRs agonist 550999-75-2
Flavoxate hydrochloride 3717-88-2
Galanthamine HBr Acetylcholinesterase inhibitor 1953-04-4
Gallamine Triethiodide 65-29-2
GTS 21 dihydrochloride nAChRs agonist, novel 156223-05-1
Hexamethonium Bromide 55-97-0
Homatropine Bromide Muscarinic AChR antagonist 51-56-9
Homatropine Methylbromide Muscarinic AChR antagonist 80-49-9
Hyoscyamine 101-31-5
Ipratropium Bromide 22254-24-6
Ivermectin B1a-d2
LX-1031 TPH inhibitor 945976-76-1
LY 2087101 913186-74-0
LY2119620 886047-22-9
Mecamylamine hydrochloride 826-39-1
Methscopolamine Muscarinic acetylcholine receptor blocker 155-41-9
Methyllycaconitine citrate 112825-05-5
MG 624 77257-42-2
Neostigmine Bromide Cholinesterase inhibitor 114-80-7
Nicotine Difartrate 65-31-6
Nitenpyram 150824-47-8
NS 1738 501684-93-1
Orphenadrine Citrate Antiparkinsonian and analgesic drug 4682-36-4
Otilonium Bromide 26095-59-0
Oxybutynin 5633-20-5
Oxybutynin chloride 1508-65-2
Pancuronium dibromide AChR antagonist 15500-66-0
Paroxetine HCl Antidepressant agents 78246-49-8
Pentoxyverine Citrate 23142-01-0
PHA 543613 hydrochloride 478149-53-0
PHA 568487 527680-57-5
Pilocarpine HCl 54-71-7
PNU 282987 123464-89-1
PNU-120596 α7 nAChR modulator,positive allosteric 501925-31-1
Pregnenolone 145-13-1
Rivastigmine Tartrate 129101-54-8
RJR 2429 dihydrochloride 1021418-53-0
RJR-2403 hemioxalate Neuronal nicotinic receptor agonist
RJR-2403 oxalate Nicotinic receptor agonist 220662-95-3
Rocuronium Bromide TGF-βR I kinase inhibitor 119302-91-9
RuBi-Nicotine 1256362-30-7
S 24795 304679-75-2
Sazetidine A dihydrochloride 1197329-42-2
SEN 12333 874450-44-9
SIB 1553A hydrochloride 191611-89-9
SR 16584 1150153-86-8
Succinylcholine Chloride Dihydrate 6101-15-1
TC 1698 dihydrochloride 787587-06-8
TC 2559 difumarate 212332-35-9
Tiotropium Bromide hydrate Muscarinic antagonist 139404-48-1
TMPH hydrochloride 849461-91-2
TQS 353483-92-8
Tropicamide Antimuscarinic drug 1508-75-4
Trospium chloride Antimuscarinic agent 10405-02-4
UB 165 fumarate 200432-86-6
Varenicline Tartrate Subtype-selective agonist of α4β2 nicotinic receptors,orally active 375815-87-5
Vecuronium Bromide Nonpolarizing neuromuscular relaxant 50700-72-6
α-Bungarotoxin 11032-79-4
α-Conotoxin AuIB 216299-21-7
α-Conotoxin EI 170663-33-9
α-Conotoxin PnIA 705300-84-1
genes like me logo Genes that share compounds with CHRNA1: view

Drug Products

Transcripts for CHRNA1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CHRNA1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRNA1

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

Expression for CHRNA1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHRNA1 Gene

mRNA expression in normal human tissues for CHRNA1 Gene
mRNA expression by BioGPS for CHRNA1 GenemRNA expression by GTEx 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHRNA1

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.

Evidence on tissue expression from TISSUES for CHRNA1 Gene

  • Muscle(4.7)
  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRNA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • kidney
  • liver
  • stomach
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CHRNA1: view

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
Chimpanzee
(Pan troglodytes)
 Mammalia CHRNA1 30 31
  • 98.41 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CHRNA1 30 31
  • 92.85 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CHRNA1 30 31
  • 91.98 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CHRNA1 31
  • 91 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Chrna1 30 17 31
  • 88.91 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Chrna1 30
  • 88.18 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia CHRNA1 31
  • 88 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CHRNA1 30 31
  • 80.37 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CHRNA1 31
  • 84 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia chrna1 30
  • 72.15 (n)
MGC76192 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.1117 30
Zebrafish
(Danio rerio)
 Actinopterygii chrna1 30 31
  • 72.89 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta nAcR&bgr;-96A 32
  • 42 (a)
nAcRalpha-80B 31 32
  • 37 (a)
 OneToMany
nAcRbeta-96A 31
  • 37 (a)
 OneToMany
nAcRalpha-96Aa 31 32
  • 35 (a)
 OneToMany
nAcRalpha-96Ab 31 32
  • 33 (a)
 OneToMany
nAcRalpha-30D 32
  • 30 (a)
nAcR&bgr;-21C 32
  • 29 (a)
nAcRalpha-7E 31 32
  • 26 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea acr-2 32
  • 40 (a)
unc-63 31 32
  • 38 (a)
 OneToMany
unc-38 31 32
  • 38 (a)
 OneToMany
lev-1 32
  • 37 (a)
acr-3 32
  • 35 (a)
ZK973.5 32
  • 35 (a)
acr-17 32
  • 33 (a)
F18G5.4 32
  • 31 (a)
acr-12 31 32
  • 30 (a)
 OneToMany
acr-8 31 32
  • 30 (a)
 OneToMany
acr-13 32
  • 30 (a)
lev-8 31
  • 29 (a)
 OneToMany
deg-3 32
  • 29 (a)
acr-6 31
  • 27 (a)
 OneToMany
acr-5 32
  • 27 (a)
F11C7.1 32
  • 27 (a)
acr-18 32
  • 24 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 38 (a)
 OneToOne
Species where no ortholog for CHRNA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CHRNA1: view image

Paralogs for CHRNA1 Gene

Paralogs for CHRNA1 Gene

(18) SIMAP similar genes for CHRNA1 Gene using alignment to 6 proteins:

  • ACHA_HUMAN
  • B8ZZD3_HUMAN
  • E7ENE5_HUMAN
  • F8WDS3_HUMAN
  • G5E9G9_HUMAN
  • Q53SH4_HUMAN
genes like me logo Genes that share paralogs with CHRNA1: view

Variants for CHRNA1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHRNA1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
640790 Uncertain Significance: Lethal multiple pterygium syndrome 174,754,271(-) C/G MISSENSE_VARIANT
646109 Uncertain Significance: Lethal multiple pterygium syndrome 174,759,496(-) T/G MISSENSE_VARIANT
647650 Uncertain Significance: Lethal multiple pterygium syndrome 174,759,565(-) C/T MISSENSE_VARIANT
648665 Uncertain Significance: Lethal multiple pterygium syndrome; Congenital myasthenic syndrome 174,748,210(-) G/A MISSENSE_VARIANT
653404 Uncertain Significance: Lethal multiple pterygium syndrome 174,749,970(-) A/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CHRNA1 Gene

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

Variant ID Type Subtype PubMed ID
esv3575313 CNV gain 25503493
esv3584180 CNV loss 25503493
nsv1012645 CNV loss 25217958
nsv459948 CNV loss 19166990
nsv470500 CNV loss 18288195
nsv583668 CNV loss 21841781

Variation tolerance for CHRNA1 Gene

Residual Variation Intolerance Score: 23.8% 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)

Additional Variant Information for CHRNA1 Gene

Human Gene Mutation Database (HGMD)
CHRNA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRNA1

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

Disorders for CHRNA1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for CHRNA1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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, 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.

Additional Disease Information for CHRNA1

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

No data available for Genatlas for CHRNA1 Gene

Publications for CHRNA1 Gene

  1. Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues. (PMID: 8441631) Talib S … Lebkowski JS (Nucleic acids research 1993) 3 4 23
  2. The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon. (PMID: 1694127) Beeson D … Newsom-Davis J (The EMBO journal 1990) 3 4 23
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 41

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