Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CHRNB1 (cholinergic receptor, nicotinic, beta 1 (muscle))

Identity

Other namesACHRB
CHRNB
CMS1D
CMS2A
SCCMS
HGNC (Hugo) CHRNB1
LocusID (NCBI) 1140
Location 17p13.1
Location_base_pair Starts at 7348406 and ends at 7360932 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)CHRNB1   1961
Cards
Entrez_Gene (NCBI)CHRNB1  1140  cholinergic receptor, nicotinic, beta 1 (muscle)
GeneCards (Weizmann)CHRNB1
Ensembl (Hinxton)ENSG00000170175 [Gene_View]  chr17:7348406-7360932 [Contig_View]  CHRNB1 [Vega]
ICGC DataPortalENSG00000170175
cBioPortalCHRNB1
AceView (NCBI)CHRNB1
Genatlas (Paris)CHRNB1
WikiGenes1140
SOURCE (Princeton)NM_000747
Genomic and cartography
GoldenPath (UCSC)CHRNB1  -  17p13.1   chr17:7348406-7360932 +  17p13.1   [Description]    (hg19-Feb_2009)
EnsemblCHRNB1 - 17p13.1 [CytoView]
Mapping of homologs : NCBICHRNB1 [Mapview]
OMIM100710   601462   608931   
Gene and transcription
Genbank (Entrez)AK294880 AK298938 AK308106 BC011371 BC023553
RefSeq transcript (Entrez)NM_000747
RefSeq genomic (Entrez)AC_000149 NC_000017 NC_018928 NG_008026 NT_010718 NW_001838403 NW_004929405
Consensus coding sequences : CCDS (NCBI)CHRNB1
Cluster EST : UnigeneHs.330386 [ NCBI ]
CGAP (NCI)Hs.330386
Alternative Splicing : Fast-db (Paris)GSHG0012193
Alternative Splicing GalleryENSG00000170175
Gene ExpressionCHRNB1 [ NCBI-GEO ]     CHRNB1 [ SEEK ]   CHRNB1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11230 (Uniprot)
NextProtP11230  [Medical]
With graphics : InterProP11230
Splice isoforms : SwissVarP11230 (Swissvar)
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)Acetylcholine_rcpt_TM [organisation]   Neur_chan_lig-bd [organisation]   Neur_channel [organisation]   Neurotrans-gated_channel_TM [organisation]   Neurotransmitter_ion_chnl_CS [organisation]   Nicotinic_acetylcholine_rcpt [organisation]  
Related proteins : CluSTrP11230
Domain families : Pfam (Sanger)Neur_chan_LBD (PF02931)    Neur_chan_memb (PF02932)   
Domain families : Pfam (NCBI)pfam02931    pfam02932   
DMDM Disease mutations1140
Blocks (Seattle)P11230
Human Protein AtlasENSG00000170175 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP11230
HPRD01156
IPIIPI00298986   IPI01013096   
Protein Interaction databases
DIP (DOE-UCLA)P11230
IntAct (EBI)P11230
FunCoupENSG00000170175
BioGRIDCHRNB1
InParanoidP11230
Interologous Interaction database P11230
IntegromeDBCHRNB1
STRING (EMBL)CHRNB1
Ontologies - Pathways
Ontology : AmiGOpostsynaptic membrane organization  acetylcholine-activated cation-selective channel activity  integral component of plasma membrane  acetylcholine-gated channel complex  cation transport  muscle contraction  signal transduction  synaptic transmission, cholinergic  neuromuscular synaptic transmission  channel activity  ligand-gated ion channel activity  acetylcholine receptor activity  cell junction  ion transmembrane transport  ion transmembrane transport  behavioral response to nicotine  acetylcholine binding  regulation of membrane potential  synapse  postsynaptic membrane  muscle fiber development  neurological system process  transmembrane transport  
Ontology : EGO-EBIpostsynaptic membrane organization  acetylcholine-activated cation-selective channel activity  integral component of plasma membrane  acetylcholine-gated channel complex  cation transport  muscle contraction  signal transduction  synaptic transmission, cholinergic  neuromuscular synaptic transmission  channel activity  ligand-gated ion channel activity  acetylcholine receptor activity  cell junction  ion transmembrane transport  ion transmembrane transport  behavioral response to nicotine  acetylcholine binding  regulation of membrane potential  synapse  postsynaptic membrane  muscle fiber development  neurological system process  transmembrane transport  
Pathways : BIOCARTARole of nicotinic acetylcholine receptors in the regulation of apoptosis [Genes]   
Pathways : KEGGNeuroactive ligand-receptor interaction   
Protein Interaction DatabaseCHRNB1
Wikipedia pathwaysCHRNB1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CHRNB1
snp3D : Map Gene to Disease1140
SNP (GeneSNP Utah)CHRNB1
SNP : HGBaseCHRNB1
Genetic variants : HAPMAPCHRNB1
Exome VariantCHRNB1
1000_GenomesCHRNB1 
ICGC programENSG00000170175 
Somatic Mutations in Cancer : COSMICCHRNB1 
CONAN: Copy Number AnalysisCHRNB1 
Mutations and Diseases : HGMDCHRNB1
Mutations and Diseases : intOGenCHRNB1
Genomic VariantsCHRNB1  CHRNB1 [DGVbeta]
dbVarCHRNB1
ClinVarCHRNB1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM100710    601462    608931   
MedgenCHRNB1
GENETestsCHRNB1
Disease Genetic AssociationCHRNB1
Huge Navigator CHRNB1 [HugePedia]  CHRNB1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCHRNB1
Homology/Alignments : Family Browser (UCSC)CHRNB1
Phylogenetic Trees/Animal Genes : TreeFamCHRNB1
Chemical/Protein Interactions : CTD1140
Chemical/Pharm GKB GenePA26494
Clinical trialCHRNB1
Cancer Resource (Charite)ENSG00000170175
Other databases
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
CoreMineCHRNB1
iHOPCHRNB1
OncoSearchCHRNB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:42:15 CEST 2014

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