Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit)

Identity

Other namesACHRA
ACHRD
CHRNA
CMS1A
CMS1B
CMS2A
FCCMS
SCCMS
HGNC (Hugo) CHRNA1
LocusID (NCBI) 1134
Atlas_Id 53528
Location 2q31.1
Location_base_pair Starts at 175612323 and ends at 175629200 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)CHRNA1   1955
Cards
Entrez_Gene (NCBI)CHRNA1  1134  cholinergic receptor nicotinic alpha 1 subunit
GeneCards (Weizmann)CHRNA1
Ensembl hg19 (Hinxton)ENSG00000138435 [Gene_View]  chr2:175612323-175629200 [Contig_View]  CHRNA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000138435 [Gene_View]  chr2:175612323-175629200 [Contig_View]  CHRNA1 [Vega]
ICGC DataPortalENSG00000138435
TCGA cBioPortalCHRNA1
AceView (NCBI)CHRNA1
Genatlas (Paris)CHRNA1
WikiGenes1134
SOURCE (Princeton)CHRNA1
Genomic and cartography
GoldenPath hg19 (UCSC)CHRNA1  -     chr2:175612323-175629200 -  2q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CHRNA1  -     2q31.1   [Description]    (hg38-Dec_2013)
EnsemblCHRNA1 - 2q31.1 [CytoView hg19]  CHRNA1 - 2q31.1 [CytoView hg38]
Mapping of homologs : NCBICHRNA1 [Mapview hg19]  CHRNA1 [Mapview hg38]
OMIM100690   253290   601462   608930   
Gene and transcription
Genbank (Entrez)AK291338 AK299445 AK315312 BC006314 BC043196
RefSeq transcript (Entrez)NM_000079 NM_001039523
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_008172 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)CHRNA1
Cluster EST : UnigeneHs.434479 [ NCBI ]
CGAP (NCI)Hs.434479
Alternative Splicing GalleryENSG00000138435
Gene ExpressionCHRNA1 [ NCBI-GEO ]   CHRNA1 [ EBI - ARRAY_EXPRESS ]   CHRNA1 [ SEEK ]   CHRNA1 [ MEM ]
Gene Expression Viewer (FireBrowse)CHRNA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)1134
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02708 (Uniprot)
NextProtP02708  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02708
Splice isoforms : SwissVarP02708 (Swissvar)
PhosPhoSitePlusP02708
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)Acetylcholine_rcpt_TM    Neur_chan_lig-bd    Neur_channel    Neurotrans-gated_channel_TM    Neurotransmitter_ion_chnl_CS    Nicotinic_acetylcholine_rcpt   
Domain families : Pfam (Sanger)Neur_chan_LBD (PF02931)    Neur_chan_memb (PF02932)   
Domain families : Pfam (NCBI)pfam02931    pfam02932   
DMDM Disease mutations1134
Blocks (Seattle)CHRNA1
PDB (SRS)1Y5P    1Y5T    1Y6C    4ZJS   
PDB (PDBSum)1Y5P    1Y5T    1Y6C    4ZJS   
PDB (IMB)1Y5P    1Y5T    1Y6C    4ZJS   
PDB (RSDB)1Y5P    1Y5T    1Y6C    4ZJS   
Structural Biology KnowledgeBase1Y5P    1Y5T    1Y6C    4ZJS   
SCOP (Structural Classification of Proteins)1Y5P    1Y5T    1Y6C    4ZJS   
CATH (Classification of proteins structures)1Y5P    1Y5T    1Y6C    4ZJS   
SuperfamilyP02708
Human Protein AtlasENSG00000138435
Peptide AtlasP02708
HPRD00007
IPIIPI00022298   IPI00218234   IPI00917035   IPI00916228   IPI00916135   IPI00917693   
Protein Interaction databases
DIP (DOE-UCLA)P02708
IntAct (EBI)P02708
FunCoupENSG00000138435
BioGRIDCHRNA1
STRING (EMBL)CHRNA1
ZODIACCHRNA1
Ontologies - Pathways
QuickGOP02708
Ontology : AmiGOskeletal muscle contraction  acetylcholine-activated cation-selective channel activity  acetylcholine-activated cation-selective channel activity  ion channel activity  plasma membrane  plasma membrane  plasma membrane  acetylcholine-gated channel complex  transport  signal transduction  synaptic transmission, cholinergic  neuromuscular synaptic transmission  neuromuscular junction development  cell surface  ligand-gated ion channel activity  acetylcholine receptor activity  neuronal action potential  cell junction  neuromuscular junction  neuromuscular junction  response to nicotine  acetylcholine binding  acetylcholine binding  regulation of membrane potential  postsynaptic membrane  muscle cell cellular homeostasis  skeletal muscle tissue growth  musculoskeletal movement  neuromuscular process  neuron cellular homeostasis  cation transmembrane transport  chemical synaptic transmission, postsynaptic  chemical synaptic transmission, postsynaptic  chemical synaptic transmission, postsynaptic  
Ontology : EGO-EBIskeletal muscle contraction  acetylcholine-activated cation-selective channel activity  acetylcholine-activated cation-selective channel activity  ion channel activity  plasma membrane  plasma membrane  plasma membrane  acetylcholine-gated channel complex  transport  signal transduction  synaptic transmission, cholinergic  neuromuscular synaptic transmission  neuromuscular junction development  cell surface  ligand-gated ion channel activity  acetylcholine receptor activity  neuronal action potential  cell junction  neuromuscular junction  neuromuscular junction  response to nicotine  acetylcholine binding  acetylcholine binding  regulation of membrane potential  postsynaptic membrane  muscle cell cellular homeostasis  skeletal muscle tissue growth  musculoskeletal movement  neuromuscular process  neuron cellular homeostasis  cation transmembrane transport  chemical synaptic transmission, postsynaptic  chemical synaptic transmission, postsynaptic  chemical synaptic transmission, postsynaptic  
Pathways : BIOCARTABlockade of Neurotransmitter Relase by Botulinum Toxin [Genes]    Agrin in Postsynaptic Differentiation [Genes]    Actions of Nitric Oxide in the Heart [Genes]   
Pathways : KEGGNeuroactive ligand-receptor interaction   
NDEx Network
Atlas of Cancer Signalling NetworkCHRNA1
Wikipedia pathwaysCHRNA1
Orthology - Evolution
OrthoDB1134
GeneTree (enSembl)ENSG00000138435
Phylogenetic Trees/Animal Genes : TreeFamCHRNA1
Homologs : HomoloGeneCHRNA1
Homology/Alignments : Family Browser (UCSC)CHRNA1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCHRNA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHRNA1
dbVarCHRNA1
ClinVarCHRNA1
1000_GenomesCHRNA1 
Exome Variant ServerCHRNA1
ExAC (Exome Aggregation Consortium)CHRNA1 (select the gene name)
SNP (GeneSNP Utah)CHRNA1
SNP : HGBaseCHRNA1
Genetic variants : HAPMAPCHRNA1
Genomic Variants (DGV)CHRNA1 [DGVbeta]
Mutations
ICGC Data PortalCHRNA1 
TCGA Data PortalCHRNA1 
Broad Tumor PortalCHRNA1
OASIS PortalCHRNA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHRNA1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CHRNA1
DgiDB (Drug Gene Interaction Database)CHRNA1
DoCM (Curated mutations)CHRNA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHRNA1 (select a term)
intoGenCHRNA1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:175612323-175629200
CONAN: Copy Number AnalysisCHRNA1 
Mutations and Diseases : HGMDCHRNA1
OMIM100690    253290    601462    608930   
MedgenCHRNA1
Genetic Testing Registry CHRNA1
NextProtP02708 [Medical]
TSGene1134
GENETestsCHRNA1
Huge Navigator CHRNA1 [HugePedia]  CHRNA1 [HugeCancerGEM]
snp3D : Map Gene to Disease1134
BioCentury BCIQCHRNA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1134
Chemical/Pharm GKB GenePA26487
Clinical trialCHRNA1
Miscellaneous
canSAR (ICR)CHRNA1 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHRNA1
GoPubMedCHRNA1
iHOPCHRNA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sat Apr 16 17:40:07 CEST 2016

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