Details for: CHRNB1

Gene ID: 1140

Symbol: CHRNB1

Ensembl ID: ENSG00000170175

Description: cholinergic receptor nicotinic beta 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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 68.3403
    Cell Significance Index: -10.6300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 32.0923
    Cell Significance Index: -8.1400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 23.8273
    Cell Significance Index: -9.6800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 23.4685
    Cell Significance Index: -11.0800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 21.2098
    Cell Significance Index: -10.9100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 16.4376
    Cell Significance Index: -11.0300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 10.3274
    Cell Significance Index: -9.8600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 8.7594
    Cell Significance Index: -10.8000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.7623
    Cell Significance Index: -10.9000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 2.5179
    Cell Significance Index: -6.7500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.2367
    Cell Significance Index: -6.8700
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.7088
    Cell Significance Index: 17.8400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.3799
    Cell Significance Index: -3.0200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.3579
    Cell Significance Index: 36.3900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.9935
    Cell Significance Index: 24.2400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8045
    Cell Significance Index: 79.5900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6781
    Cell Significance Index: 612.2600
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.6743
    Cell Significance Index: 10.8800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.5941
    Cell Significance Index: 38.3300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5332
    Cell Significance Index: 32.0100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5317
    Cell Significance Index: 24.1000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5164
    Cell Significance Index: 56.1700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4288
    Cell Significance Index: 69.7500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4086
    Cell Significance Index: 25.7500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.3998
    Cell Significance Index: 9.9700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.3644
    Cell Significance Index: 18.9800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3475
    Cell Significance Index: 40.5000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2990
    Cell Significance Index: 4.0800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2765
    Cell Significance Index: 19.1200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.2750
    Cell Significance Index: 7.0700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.2632
    Cell Significance Index: 4.4100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.2198
    Cell Significance Index: 5.8700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.1778
    Cell Significance Index: 2.0200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1570
    Cell Significance Index: 28.3100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.1509
    Cell Significance Index: 1.6400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1394
    Cell Significance Index: 7.2400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1376
    Cell Significance Index: 9.7300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1309
    Cell Significance Index: 57.8600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1267
    Cell Significance Index: 3.6500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1211
    Cell Significance Index: 15.5300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1081
    Cell Significance Index: 21.4500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0981
    Cell Significance Index: 53.5700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0741
    Cell Significance Index: 1.5500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0729
    Cell Significance Index: 13.8800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0715
    Cell Significance Index: 1.5500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0668
    Cell Significance Index: 3.1200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0658
    Cell Significance Index: 9.0400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0576
    Cell Significance Index: 9.8400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.0537
    Cell Significance Index: 0.8100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0510
    Cell Significance Index: 1.3400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0458
    Cell Significance Index: 9.1900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0443
    Cell Significance Index: 1.3000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0409
    Cell Significance Index: 1.9200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0286
    Cell Significance Index: 1.4400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0285
    Cell Significance Index: 3.5100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0252
    Cell Significance Index: 1.8800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0236
    Cell Significance Index: 1.2400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0160
    Cell Significance Index: 1.8900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0086
    Cell Significance Index: 15.7800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0059
    Cell Significance Index: 11.1900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0029
    Cell Significance Index: 4.5000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0002
    Cell Significance Index: 0.0700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0027
    Cell Significance Index: -1.8900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0034
    Cell Significance Index: -4.5700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0039
    Cell Significance Index: -2.4800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0039
    Cell Significance Index: -2.9400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0044
    Cell Significance Index: -0.1400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0058
    Cell Significance Index: -4.2300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0114
    Cell Significance Index: -8.4200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0149
    Cell Significance Index: -8.4200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0164
    Cell Significance Index: -0.4200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0181
    Cell Significance Index: -2.6300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0191
    Cell Significance Index: -11.9200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0211
    Cell Significance Index: -0.4500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0215
    Cell Significance Index: -2.2000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0221
    Cell Significance Index: -6.3600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0228
    Cell Significance Index: -10.3700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0273
    Cell Significance Index: -0.9600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0279
    Cell Significance Index: -3.6100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0286
    Cell Significance Index: -0.2400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0423
    Cell Significance Index: -3.2500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0527
    Cell Significance Index: -2.1600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0555
    Cell Significance Index: -1.9300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0576
    Cell Significance Index: -12.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0605
    Cell Significance Index: -6.9300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0628
    Cell Significance Index: -1.5700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0628
    Cell Significance Index: -1.7100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0827
    Cell Significance Index: -2.3100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0887
    Cell Significance Index: -1.5200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0954
    Cell Significance Index: -5.8500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1036
    Cell Significance Index: -10.7900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1090
    Cell Significance Index: -8.6300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1242
    Cell Significance Index: -2.7200
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.1299
    Cell Significance Index: -1.3800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1387
    Cell Significance Index: -2.9700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1391
    Cell Significance Index: -1.4400
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.1470
    Cell Significance Index: -2.0400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1495
    Cell Significance Index: -8.3900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2115
    Cell Significance Index: -7.4100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2133
    Cell Significance Index: -6.2800

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:** CHRNB1 is a transmembrane protein that belongs to the nicotinic acetylcholine receptor (nAChR) family. It is characterized by its ability to bind to acetylcholine, a neurotransmitter, and regulate postsynaptic membrane potential. The CHRNB1 subunit is composed of four transmembrane domains and one intracellular loop, which interact with other nAChR subunits to form a functional receptor complex. This complex is responsible for mediating excitatory synaptic transmission and regulating muscle contraction. **Pathways and Functions:** CHRNB1 is involved in several key pathways, including: 1. **Acetylcholine-gated channel complex:** CHRNB1 interacts with other nAChR subunits to form a functional channel complex that regulates postsynaptic membrane potential. 2. **Acetylcholine receptor signaling pathway:** CHRNB1 is part of the nAChR signaling pathway, which involves the activation of downstream signaling molecules to regulate various cellular processes. 3. **Signal transduction:** CHRNB1 regulates signal transduction pathways, including those involved in muscle contraction and excitatory postsynaptic potential. 4. **Regulation of membrane potential:** CHRNB1 helps regulate membrane potential by modulating the activity of ion channels and pumps. **Clinical Significance:** Abnormalities in CHRNB1 have been linked to several neurological and muscular disorders, including: 1. **Myasthenia gravis:** A autoimmune disorder characterized by weakness and fatigue, which is caused by antibodies that target the nAChR complex, including CHRNB1. 2. **Amyotrophic lateral sclerosis (ALS):** A progressive neurodegenerative disorder that affects motor neurons, which may be associated with abnormalities in CHRNB1. 3. **Congenital myasthenic syndrome:** A group of disorders characterized by muscle weakness and fatigue, which may be caused by mutations in the CHRNB1 gene. 4. **Neuromuscular transmission disorders:** CHRNB1 plays a critical role in regulating neuromuscular transmission, and abnormalities in this gene may contribute to disorders such as Lambert-Eaton myasthenic syndrome. In conclusion, CHRNB1 is a critical component of the acetylcholine receptor complex, which plays a vital role in regulating postsynaptic membrane potential. Abnormalities in CHRNB1 have been linked to several neurological and muscular disorders, highlighting the importance of this gene in maintaining normal physiological function. Further research is needed to fully understand the role of CHRNB1 in human health and disease.

Genular Protein ID: 3042013937

Symbol: ACHB_HUMAN

Name: N/A

UniProtKB Accession Codes:

P11230 B7Z5H1 Q8IZ46 Q96FB8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 2 ChEMBL 3 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 DrugCentral 1 EMBL 5 Ensembl 4 ExpressionAtlas 1 GO 24 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 1 Rhea 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2740233

Title: Nucleotide sequence of human muscle acetylcholine receptor beta-subunit.

PubMed ID: 2740233

DOI: 10.1093/nar/17.11.4391

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

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: 8651643

Title: A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome.

PubMed ID: 8651643

DOI: 10.1002/ana.410390607

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: 10562302

Title: Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.

PubMed ID: 10562302

DOI: 10.1172/jci8179

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

Sequence Information:

  • Length: 501
  • Mass: 56698
  • Checksum: 365CBFA795A51394
  • Sequence:
    • MTPGALLMLL GALGAPLAPG VRGSEAEGRL REKLFSGYDS SVRPAREVGD RVRVSVGLIL 
AQLISLNEKD EEMSTKVYLD LEWTDYRLSW DPAEHDGIDS LRITAESVWL PDVVLLNNND 
GNFDVALDIS VVVSSDGSVR WQPPGIYRSS CSIQVTYFPF DWQNCTMVFS SYSYDSSEVS 
LQTGLGPDGQ GHQEIHIHEG TFIENGQWEI IHKPSRLIQP PGDPRGGREG QRQEVIFYLI 
IRRKPLFYLV NVIAPCILIT LLAIFVFYLP PDAGEKMGLS IFALLTLTVF LLLLADKVPE 
TSLSVPIIIK YLMFTMVLVT FSVILSVVVL NLHHRSPHTH QMPLWVRQIF IHKLPLYLRL 
KRPKPERDLM PEPPHCSSPG SGWGRGTDEY FIRKPPSDFL FPKPNRFQPE LSAPDLRRFI 
DGPNRAVALL PELREVVSSI SYIARQLQEQ EDHDALKEDW QFVAMVVDRL FLWTFIIFTS 
VGTLVIFLDA TYHLPPPDPF P

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.