Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CHRNA1 (cholinergic receptor, nicotinic, alpha 1 (muscle))

Identity

Other namesACHRA
ACHRD
CHRNA
CMS2A
FCCMS
SCCMS
HGNC (Hugo) CHRNA1
LocusID (NCBI) 1134
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

External links

Nomenclature
HGNC (Hugo)CHRNA1   1955
Cards
Entrez_Gene (NCBI)CHRNA1  1134  cholinergic receptor, nicotinic, alpha 1 (muscle)
GeneCards (Weizmann)CHRNA1
Ensembl (Hinxton)ENSG00000138435 [Gene_View]  chr2:175612323-175629200 [Contig_View]  CHRNA1 [Vega]
ICGC DataPortalENSG00000138435
AceView (NCBI)CHRNA1
Genatlas (Paris)CHRNA1
WikiGenes1134
SOURCE (Princeton)NM_000079 NM_001039523
Genomic and cartography
GoldenPath (UCSC)CHRNA1  -  2q31.1   chr2:175612323-175629200 -  2q31.1   [Description]    (hg19-Feb_2009)
EnsemblCHRNA1 - 2q31.1 [CytoView]
Mapping of homologs : NCBICHRNA1 [Mapview]
OMIM100690   253290   601462   608930   
Gene and transcription
Genbank (Entrez)AK291338 AK299445 AK315312 BC006314 BC043196
RefSeq transcript (Entrez)NM_000079 NM_001039523
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_008172 NT_005403 NW_001838863 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 [ SEEK ]   CHRNA1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02708 (Uniprot)
NextProtP02708  [Medical]
With graphics : InterProP02708
Splice isoforms : SwissVarP02708 (Swissvar)
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   
Related proteins : CluSTrP02708
Domain families : Pfam (Sanger)Neur_chan_LBD (PF02931)    Neur_chan_memb (PF02932)   
Domain families : Pfam (NCBI)pfam02931    pfam02932   
DMDM Disease mutations1134
Blocks (Seattle)P02708
PDB (SRS)1Y5P    1Y5T    1Y6C   
PDB (PDBSum)1Y5P    1Y5T    1Y6C   
PDB (IMB)1Y5P    1Y5T    1Y6C   
PDB (RSDB)1Y5P    1Y5T    1Y6C   
Human Protein AtlasENSG00000138435
Peptide AtlasP02708
HPRD00007
IPIIPI00022298   IPI00218234   IPI00917035   IPI00916228   IPI00916135   IPI00917693   
Protein Interaction databases
DIP (DOE-UCLA)P02708
IntAct (EBI)P02708
FunCoupENSG00000138435
BioGRIDCHRNA1
InParanoidP02708
Interologous Interaction database P02708
IntegromeDBCHRNA1
STRING (EMBL)CHRNA1
Ontologies - Pathways
Ontology : AmiGOskeletal muscle contraction  acetylcholine-activated cation-selective channel activity  acetylcholine-activated cation-selective channel activity  ion channel activity  plasma membrane  plasma membrane  acetylcholine-gated channel complex  transport  cation transport  cation transport  cation transport  cation transport  signal transduction  synaptic transmission  neuromuscular synaptic transmission  neuromuscular junction development  cell surface  acetylcholine receptor activity  neuronal action potential  cell junction  neuromuscular junction  neuromuscular junction  ion transmembrane transport  ion transmembrane transport  acetylcholine binding  regulation of membrane potential  postsynaptic membrane  muscle cell cellular homeostasis  skeletal muscle tissue growth  musculoskeletal movement  neuromuscular process  neuron cellular homeostasis  
Ontology : EGO-EBIskeletal muscle contraction  acetylcholine-activated cation-selective channel activity  acetylcholine-activated cation-selective channel activity  ion channel activity  plasma membrane  plasma membrane  acetylcholine-gated channel complex  transport  cation transport  cation transport  cation transport  cation transport  signal transduction  synaptic transmission  neuromuscular synaptic transmission  neuromuscular junction development  cell surface  acetylcholine receptor activity  neuronal action potential  cell junction  neuromuscular junction  neuromuscular junction  ion transmembrane transport  ion transmembrane transport  acetylcholine binding  regulation of membrane potential  postsynaptic membrane  muscle cell cellular homeostasis  skeletal muscle tissue growth  musculoskeletal movement  neuromuscular process  neuron cellular homeostasis  
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   
Protein Interaction DatabaseCHRNA1
Wikipedia pathwaysCHRNA1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CHRNA1
SNP (GeneSNP Utah)CHRNA1
SNP : HGBaseCHRNA1
Genetic variants : HAPMAPCHRNA1
1000_GenomesCHRNA1 
ICGC programENSG00000138435 
CONAN: Copy Number AnalysisCHRNA1 
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
Mutations and Diseases : HGMDCHRNA1
OMIM100690    253290    601462    608930   
MedgenCHRNA1
GENETestsCHRNA1
Disease Genetic AssociationCHRNA1
Huge Navigator CHRNA1 [HugePedia]  CHRNA1 [HugeCancerGEM]
Genomic VariantsCHRNA1  CHRNA1 [DGVbeta]
Exome VariantCHRNA1
dbVarCHRNA1
ClinVarCHRNA1
snp3D : Map Gene to Disease1134
General knowledge
Homologs : HomoloGeneCHRNA1
Homology/Alignments : Family Browser (UCSC)CHRNA1
Phylogenetic Trees/Animal Genes : TreeFamCHRNA1
Chemical/Protein Interactions : CTD1134
Chemical/Pharm GKB GenePA26487
Clinical trialCHRNA1
Cancer Resource (Charite)ENSG00000138435
Other databases
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
CoreMineCHRNA1
iHOPCHRNA1
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 : Mon Oct 13 12:38:49 CEST 2014

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