Details for: CHRNA1

Gene ID: 1134

Symbol: CHRNA1

Ensembl ID: ENSG00000138435

Description: cholinergic receptor nicotinic alpha 1 subunit

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 3.0688
    Cell Significance Index: 38.8700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 2.3685
    Cell Significance Index: 57.7900
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 2.0390
    Cell Significance Index: 32.9000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 1.8029
    Cell Significance Index: 19.6000
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.4857
    Cell Significance Index: 15.5100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.9373
    Cell Significance Index: 32.5700
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.8750
    Cell Significance Index: 12.2900
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.7073
    Cell Significance Index: 4.8300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.6565
    Cell Significance Index: 44.1400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.3776
    Cell Significance Index: 5.6900
  • Cell Name: tongue muscle cell (CL0002673)
    Fold Change: 0.2377
    Cell Significance Index: 1.7800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1416
    Cell Significance Index: 16.7000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1366
    Cell Significance Index: 2.9600
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.1223
    Cell Significance Index: 1.1700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1108
    Cell Significance Index: 18.0300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1004
    Cell Significance Index: 54.8300
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 0.0762
    Cell Significance Index: 0.7900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0694
    Cell Significance Index: 3.9000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0691
    Cell Significance Index: 4.1500
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.0662
    Cell Significance Index: 0.6300
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: 0.0396
    Cell Significance Index: 0.2300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0263
    Cell Significance Index: 0.5600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0235
    Cell Significance Index: 4.7200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0085
    Cell Significance Index: 1.6900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0037
    Cell Significance Index: 0.1100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0014
    Cell Significance Index: 0.6200
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0009
    Cell Significance Index: -1.7100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0028
    Cell Significance Index: -5.1100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0031
    Cell Significance Index: -1.1100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0033
    Cell Significance Index: -5.0100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0035
    Cell Significance Index: -2.6600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0037
    Cell Significance Index: -0.4700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0038
    Cell Significance Index: -2.4000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0040
    Cell Significance Index: -5.4900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0046
    Cell Significance Index: -3.3800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0056
    Cell Significance Index: -3.1300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0059
    Cell Significance Index: -0.1700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0067
    Cell Significance Index: -3.0600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0077
    Cell Significance Index: -2.2100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0081
    Cell Significance Index: -0.2600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0091
    Cell Significance Index: -0.1300
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0118
    Cell Significance Index: -0.5100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0124
    Cell Significance Index: -2.2400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0128
    Cell Significance Index: -2.1800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0139
    Cell Significance Index: -0.4100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0143
    Cell Significance Index: -2.0800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0155
    Cell Significance Index: -3.2800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0176
    Cell Significance Index: -2.4200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0179
    Cell Significance Index: -1.9500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0185
    Cell Significance Index: -2.3900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0192
    Cell Significance Index: -2.3600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0200
    Cell Significance Index: -2.0400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0259
    Cell Significance Index: -2.7000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0265
    Cell Significance Index: -0.7200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0281
    Cell Significance Index: -0.6800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0286
    Cell Significance Index: -1.4500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0305
    Cell Significance Index: -1.2500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0308
    Cell Significance Index: -3.5300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0311
    Cell Significance Index: -2.1500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0313
    Cell Significance Index: -1.4200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0351
    Cell Significance Index: -0.9800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0369
    Cell Significance Index: -0.9200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0377
    Cell Significance Index: -2.8100
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0385
    Cell Significance Index: -0.9600
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.0388
    Cell Significance Index: -0.3300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0412
    Cell Significance Index: -1.0600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0413
    Cell Significance Index: -3.1700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0423
    Cell Significance Index: -2.2200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0447
    Cell Significance Index: -2.3300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0454
    Cell Significance Index: -0.9500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0465
    Cell Significance Index: -2.1900
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: -0.0474
    Cell Significance Index: -0.5000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0477
    Cell Significance Index: -0.9700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0482
    Cell Significance Index: -1.6900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0482
    Cell Significance Index: -2.1300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0513
    Cell Significance Index: -1.6800
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.0521
    Cell Significance Index: -0.8900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0524
    Cell Significance Index: -3.2200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0574
    Cell Significance Index: -2.1800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0600
    Cell Significance Index: -1.9100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0674
    Cell Significance Index: -1.8100
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.0702
    Cell Significance Index: -0.7800
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.0788
    Cell Significance Index: -0.8600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0809
    Cell Significance Index: -2.1600
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0834
    Cell Significance Index: -0.5600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0860
    Cell Significance Index: -2.3000
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: -0.0870
    Cell Significance Index: -0.7900
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0879
    Cell Significance Index: -2.2400
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: -0.0903
    Cell Significance Index: -0.8800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0949
    Cell Significance Index: -2.5000
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: -0.0951
    Cell Significance Index: -1.1500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0956
    Cell Significance Index: -2.7400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0976
    Cell Significance Index: -1.0100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0984
    Cell Significance Index: -2.8900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0989
    Cell Significance Index: -5.1400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1014
    Cell Significance Index: -4.7300
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.1074
    Cell Significance Index: -1.5600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1112
    Cell Significance Index: -1.8700
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1118
    Cell Significance Index: -2.4200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Ligand-gated ion channel**: The CHRNA1 gene encodes for the alpha 1 subunit of the nAChR, a ligand-gated ion channel that regulates the flow of cations, including calcium, across the plasma membrane. 2. **High calcium permeability**: The nAChR, composed of the CHRNA1 gene product and the beta 2, beta 3, or delta subunits, exhibits high calcium permeability, making it a critical component in regulating muscle contraction and neuronal signaling. 3. **Nicotinic acetylcholine receptor**: The CHRNA1 gene is a key component of the nAChR, which is activated by the neurotransmitter acetylcholine and other ligands, such as nicotine. 4. **Multiple isoforms**: The CHRNA1 gene can form multiple isoforms with different combinations of subunits, resulting in receptors with varying properties and functions. **Pathways and Functions** 1. **Muscle contraction**: The nAChR, composed of the CHRNA1 gene product and the beta 2, beta 3, or delta subunits, plays a crucial role in regulating muscle contraction, particularly in skeletal muscle. 2. **Neuronal signaling**: The nAChR, composed of the CHRNA1 gene product and the beta 2, beta 3, or delta subunits, is involved in regulating neuronal signaling, including excitatory postsynaptic potentials and synaptic transmission. 3. **Synaptic transmission**: The nAChR, composed of the CHRNA1 gene product and the beta 2, beta 3, or delta subunits, is critical in regulating synaptic transmission, including the release of neurotransmitters and the regulation of postsynaptic membrane potential. 4. **Regulation of membrane potential**: The nAChR, composed of the CHRNA1 gene product and the beta 2, beta 3, or delta subunits, regulates membrane potential by controlling the flow of cations, including calcium, across the plasma membrane. **Clinical Significance** 1. **Neuromuscular disorders**: Alterations in the CHRNA1 gene have been implicated in various neuromuscular disorders, including myasthenia gravis, Lambert-Eaton myasthenic syndrome, and congenital myasthenic syndrome. 2. **Addiction**: The nAChR, composed of the CHRNA1 gene product and the beta 2, beta 3, or delta subunits, is involved in the regulation of nicotine addiction and withdrawal. 3. **Cancer**: The nAChR, composed of the CHRNA1 gene product and the beta 2, beta 3, or delta subunits, has been implicated in the regulation of cancer cell growth and metastasis. 4. **Neurodegenerative diseases**: The nAChR, composed of the CHRNA1 gene product and the beta 2, beta 3, or delta subunits, is involved in the regulation of neuronal signaling and synaptic transmission in neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. In conclusion, the CHRNA1 gene plays a critical role in regulating various physiological processes, including muscle contraction, neuronal signaling, and synaptic transmission. Its dysregulation has been implicated in various diseases, including neuromuscular disorders, addiction, cancer, and neurodegenerative diseases. Further research is needed to fully understand the mechanisms by which the CHRNA1 gene regulates physiological processes and to develop targeted therapies for diseases associated with its dysregulation.

Genular Protein ID: 3939718576

Symbol: ACHA_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 6688857

Title: Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor.

PubMed ID: 6688857

DOI: 10.1038/305818a0

PubMed ID: 3338555

Title: The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA.

PubMed ID: 3338555

DOI: 10.1016/0014-5793(88)81430-3

PubMed ID: 1694127

Title: The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon.

PubMed ID: 1694127

DOI: 10.1002/j.1460-2075.1990.tb07378.x

PubMed ID: 7725386

Title: Cloning of a cDNA coding for the acetylcholine receptor alpha-subunit from a thymoma associated with myasthenia gravis.

PubMed ID: 7725386

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 2449458

Title: Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis.

PubMed ID: 2449458

DOI: 10.1172/jci113369

PubMed ID: 8441631

Title: Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues.

PubMed ID: 8441631

DOI: 10.1093/nar/21.2.233

PubMed ID: 8788941

Title: Functional and non-functional isoforms of the human muscle acetylcholine receptor.

PubMed ID: 8788941

DOI: 10.1113/jphysiol.1995.sp021090

PubMed ID: 15609996

Title: Alpha-conotoxins ImI and ImII target distinct regions of the human alpha7 nicotinic acetylcholine receptor and distinguish human nicotinic receptor subtypes.

PubMed ID: 15609996

DOI: 10.1021/bi048918g

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 27375219

Title: Mutations causing slow-channel myasthenia reveal that a valine ring in the channel pore of muscle AChR is optimized for stabilizing channel gating.

PubMed ID: 27375219

DOI: 10.1002/humu.23043

PubMed ID: 28440223

Title: Structural insights into the molecular mechanisms of myasthenia gravis and their therapeutic implications.

PubMed ID: 28440223

DOI: 10.7554/elife.23043

PubMed ID: 7619526

Title: Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.

PubMed ID: 7619526

DOI: 10.1016/0896-6273(95)90080-2

PubMed ID: 8872460

Title: New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.

PubMed ID: 8872460

DOI: 10.1093/hmg/5.9.1217

PubMed ID: 9158151

Title: Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.

PubMed ID: 9158151

DOI: 10.1093/hmg/6.5.767

PubMed ID: 9221765

Title: Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.

PubMed ID: 9221765

DOI: 10.1523/jneurosci.17-15-05651.1997

PubMed ID: 10195214

Title: Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating.

PubMed ID: 10195214

DOI: 10.1038/6326

PubMed ID: 12588888

Title: Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.

PubMed ID: 12588888

DOI: 10.1172/jci16997

PubMed ID: 15079006

Title: Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.

PubMed ID: 15079006

DOI: 10.1212/01.wnl.0000118205.99701.41

PubMed ID: 16685696

Title: Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.

PubMed ID: 16685696

DOI: 10.1002/ana.20861

PubMed ID: 18252226

Title: Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

PubMed ID: 18252226

DOI: 10.1016/j.ajhg.2007.11.006

Sequence Information:

  • Length: 457
  • Mass: 51839
  • Checksum: 89480567D85C15B8
  • Sequence:
  • MEPWPLLLLF SLCSAGLVLG SEHETRLVAK LFKDYSSVVR PVEDHRQVVE VTVGLQLIQL 
    INVDEVNQIV TTNVRLKQQW VDYNLKWNPD DYGGVKKIHI PSEKIWRPDL VLYNNADGDF 
    AIVKFTKVLL QYTGHITWTP PAIFKSYCEI IVTHFPFDEQ NCSMKLGTWT YDGSVVAINP 
    ESDQPDLSNF MESGEWVIKE SRGWKHSVTY SCCPDTPYLD ITYHFVMQRL PLYFIVNVII 
    PCLLFSFLTG LVFYLPTDSG EKMTLSISVL LSLTVFLLVI VELIPSTSSA VPLIGKYMLF 
    TMVFVIASII ITVIVINTHH RSPSTHVMPN WVRKVFIDTI PNIMFFSTMK RPSREKQDKK 
    IFTEDIDISD ISGKPGPPPM GFHSPLIKHP EVKSAIEGIK YIAETMKSDQ ESNNAAAEWK 
    YVAMVMDHIL LGVFMLVCII GTLAVFAGRL IELNQQG

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.