Details for: CHRNA1

Gene ID: 1134

Symbol: CHRNA1

Ensembl ID: ENSG00000138435

Description: cholinergic receptor nicotinic alpha 1 subunit

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 20.21
    Marker Score: 48778
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 3.08
    Marker Score: 1621
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.21
    Marker Score: 2228
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.2
    Marker Score: 2345
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.44
    Marker Score: 3613
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.38
    Marker Score: 874
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 859
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.26
    Marker Score: 914.5
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.18
    Marker Score: 489
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.15
    Marker Score: 2389.5
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.15
    Marker Score: 2186
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4821
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.14
    Marker Score: 478
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 1.09
    Marker Score: 726
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251814
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 1.02
    Marker Score: 777
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71833
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48057
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 511
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 464
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.95
    Marker Score: 1938
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 376
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5350
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 328
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.89
    Marker Score: 314
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.81
    Marker Score: 489
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.8
    Marker Score: 12515
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 607
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 399
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.76
    Marker Score: 505
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.65
    Marker Score: 378
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6
    Marker Score: 384
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.58
    Marker Score: 462
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 147
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.55
    Marker Score: 264
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.54
    Marker Score: 174
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 279
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.43
    Marker Score: 112
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.41
    Marker Score: 394
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.39
    Marker Score: 1117
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.38
    Marker Score: 120
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 374
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.36
    Marker Score: 746
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.35
    Marker Score: 112
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.34
    Marker Score: 152.5
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.33
    Marker Score: 543
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.33
    Marker Score: 105
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.31
    Marker Score: 176
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.28
    Marker Score: 150
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.25
    Marker Score: 90
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.24
    Marker Score: 186
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.24
    Marker Score: 2232
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.23
    Marker Score: 550
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.23
    Marker Score: 1528
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.21
    Marker Score: 636
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.2
    Marker Score: 72
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.2
    Marker Score: 51
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 0.19
    Marker Score: 46
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.18
    Marker Score: 180
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.17
    Marker Score: 268
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 0.16
    Marker Score: 151
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.16
    Marker Score: 5372
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.15
    Marker Score: 51
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.15
    Marker Score: 211
  • Cell Name: centroblast (CL0009112)
    Fold Change: 0.15
    Marker Score: 74
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.15
    Marker Score: 69
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.14
    Marker Score: 93.5
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 0.14
    Marker Score: 149
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.14
    Marker Score: 50
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.13
    Marker Score: 128
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.13
    Marker Score: 36
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.12
    Marker Score: 83
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.12
    Marker Score: 74
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 0.12
    Marker Score: 36
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 0.11
    Marker Score: 90
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.11
    Marker Score: 85
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 0.11
    Marker Score: 65
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.11
    Marker Score: 60
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 0.1
    Marker Score: 77
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 0.1
    Marker Score: 76
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1
    Marker Score: 99
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.1
    Marker Score: 66
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.1
    Marker Score: 45
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1
    Marker Score: 5925
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.1
    Marker Score: 29
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.1
    Marker Score: 106
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.1
    Marker Score: 164
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.09
    Marker Score: 36
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.09
    Marker Score: 162

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Other Information

**Key characteristics**: * The gene is located on chromosome 19p13.1. * It is a large gene, encoding a protein of approximately 135 kDa. * The protein is a transmembrane protein with seven transmembrane domains. * It is a ligand-gated ion channel, meaning that it opens when a ligand binds to its receptor. * It is expressed in a variety of cell types, including non-classical monocyte, hematopoietic stem cell, blood vessel endothelial cell, skeletal muscle satellite stem cell, skeletal muscle fiber, granulocyte monocyte progenitor cell, intestinal crypt stem cell of small intestine, colon goblet cell, transit amplifying cell of small intestine, kidney proximal convoluted tubule epithelial cell. **Pathways and functions**: * The CHRNA1 gene is involved in the regulation of postsynaptic membrane potential. * It is a key component of the nicotinic acetylcholine receptor signaling pathway. * It is involved in the transmission of excitatory and inhibitory synaptic signals in the central nervous system. * It is also involved in immune responses, where it plays a role in the regulation of inflammation and immune cell migration. **Clinical significance**: * Mutations in the CHRNA1 gene have been linked to a number of human diseases, including Alzheimer's disease, Parkinson's disease, and schizophrenia. * These mutations can lead to changes in the structure or function of the nicotinic acetylcholine receptor, which can result in a variety of neurological and psychiatric symptoms. * Therefore, understanding the function of the CHRNA1 gene is important for understanding the development of novel treatments for these diseases.

Genular Protein ID: 3939718576

Symbol: ACHA_HUMAN

Name: Acetylcholine receptor subunit alpha

UniProtKB Accession Codes:

P02708 B4DRV6 D3DPE8

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChEMBL 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 DrugCentral 1 EMBL 14 Ensembl 2 ExpressionAtlas 1 GO 26 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 8 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 2 PIR 2 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 2 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

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: 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. For the full schema, download it here.