CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit)

2013-09-01  

Identity

HGNC
CHRNA1
LOCATION
2q31.1
LOCUSID
1134
ALIAS
ACHRA,ACHRD,CHRNA,CMS1A,CMS1B,CMS2A,FCCMS,SCCMS

Other Information

Locus ID:

NCBI: 1134
MIM: 100690
HGNC: 1955
Ensembl: ENSG00000138435

Variants:

dbSNP: 1134
ClinVar: 1134
TCGA: ENSG00000138435
COSMIC: CHRNA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138435ENST00000261007P02708
ENSG00000138435ENST00000348749P02708
ENSG00000138435ENST00000348749Q53SH4
ENSG00000138435ENST00000409219E7ENE5
ENSG00000138435ENST00000409323G5E9G9
ENSG00000138435ENST00000409542B8ZZD3
ENSG00000138435ENST00000435083F8WDS3
ENSG00000138435ENST00000636168A0A1B0GV17

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Acetylcholine Binding And Downstream EventsREACTOMER-HSA-181431
Activation of Nicotinic Acetylcholine ReceptorsREACTOMER-HSA-629602
Presynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622323
Highly calcium permeable nicotinic acetylcholine receptorsREACTOMER-HSA-629597
Postsynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622327
Highly calcium permeable postsynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-629594

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA133950441hmg coa reductase inhibitorsChemicalVariantAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
334768022021CHRNA1 promotes the pathogenesis of primary focal hyperhidrosis.7
336529012021Point Mutations of Nicotinic Receptor α1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia.2
334768022021CHRNA1 promotes the pathogenesis of primary focal hyperhidrosis.7
336529012021Point Mutations of Nicotinic Receptor α1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia.2
318557202020Increased serum acetylcholine receptor α1 subunit protein in anti-acetylcholine receptor antibody-positive myasthenia gravis.1
318557202020Increased serum acetylcholine receptor α1 subunit protein in anti-acetylcholine receptor antibody-positive myasthenia gravis.1
296885892018Evaluating the effect of nicotinic cholinergic receptor genes on the risk of nonsyndromic cleft lip with or without cleft palate.0
296885892018Evaluating the effect of nicotinic cholinergic receptor genes on the risk of nonsyndromic cleft lip with or without cleft palate.0
266568372016Effect of nicotinic acetylcholine receptor alpha 1 (nAChRα1) peptides on rabies virus infection in neuronal cells.2
276494982016High Throughput Random Mutagenesis and Single Molecule Real Time Sequencing of the Muscle Nicotinic Acetylcholine Receptor.4
266568372016Effect of nicotinic acetylcholine receptor alpha 1 (nAChRα1) peptides on rabies virus infection in neuronal cells.2
276494982016High Throughput Random Mutagenesis and Single Molecule Real Time Sequencing of the Muscle Nicotinic Acetylcholine Receptor.4
252799742015Role of SLCO1B1, ABCB1, and CHRNA1 gene polymorphisms on the efficacy of rocuronium in Chinese patients.8
256701502015Nicotine induces resistance to erlotinib via cross-talk between α 1 nAChR and EGFR in the non-small cell lung cancer xenograft model.17
258887932015Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes.9

Citation

Dessen P

CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit)

Atlas Genet Cytogenet Oncol Haematol. 2013-09-01

Online version: http://atlasgeneticsoncology.org/gene/53528/case-report-explorer/js/img/logo-atlas-4.svg