Human Gene CHRNA5 (ENST00000299565.9_4) from GENCODE V47lift37
  Description: cholinergic receptor nicotinic alpha 5 subunit, transcript variant 4 (from RefSeq NM_001395172.1)
Gencode Transcript: ENST00000299565.9_4
Gencode Gene: ENSG00000169684.13_10
Transcript (Including UTRs)
   Position: hg19 chr15:78,857,862-78,887,611 Size: 29,750 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr15:78,858,062-78,885,595 Size: 27,534 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:78,857,862-78,887,611)mRNA (may differ from genome)Protein (468 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsHGNCHuman Cortex Gene Expression
MalacardsMGIPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ACHA5_HUMAN
DESCRIPTION: RecName: Full=Neuronal acetylcholine receptor subunit alpha-5; Flags: Precursor;
FUNCTION: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
SUBUNIT: Neuronal AChR seems to be composed of two different type of subunits: alpha and non-alpha (beta).
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
POLYMORPHISM: Genetic variations in CHRNA5 have been associated with susceptibility to smoking-related behavioral traits and lung cancer, contributing to the smoking quantitative trait locus 3 (SQTL3) [MIM:612052].
SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 5/CHRNA5 sub-subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CHRNA5
Diseases sorted by gene-association score: lung cancer susceptibility 2* (575), substance dependence (11), autosomal dominant nocturnal frontal lobe epilepsy (9), cocaine dependence (7), nicotine dependence, protection against (7), cannabis abuse (6), lung cancer (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D009538 Nicotine
  • C070379 1,2-bis(2-aminophenoxy)ethane N,N,N',N'-tetraacetic acid acetoxymethyl ester
  • C090942 4-(4-fluorophenyl)-2-(4-hydroxyphenyl)-5-(4-pyridyl)imidazole
  • C489251 5-iodo-3-((3,5-dibromo-4-hydroxyphenyl)methylene)-2-indolinone
  • D000109 Acetylcholine
  • D016604 Aflatoxin B1
  • D000643 Ammonium Chloride
  • D002217 Carbachol
  • D004390 Chlorpyrifos
  • D003042 Cocaine
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.12 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 25.93 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -93.90200-0.470 Picture PostScript Text
3' UTR -513.602016-0.255 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006202 - Neur_chan_lig-bd
IPR006201 - Neur_channel
IPR006029 - Neurotrans-gated_channel_TM
IPR018000 - Neurotransmitter_ion_chnl_CS
IPR002394 - Nicotinic_acetylcholine_rcpt

Pfam Domains:
PF02931 - Neurotransmitter-gated ion-channel ligand binding domain
PF02932 - Neurotransmitter-gated ion-channel transmembrane region

SCOP Domains:
63712 - Nicotinic receptor ligand binding domain-like
90112 - Neurotransmitter-gated ion-channel transmembrane pore

ModBase Predicted Comparative 3D Structure on P30532
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0005216 ion channel activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0005515 protein binding
GO:0015276 ligand-gated ion channel activity
GO:0015464 acetylcholine receptor activity
GO:0022848 acetylcholine-gated cation-selective channel activity
GO:0042166 acetylcholine binding

Biological Process:
GO:0006811 ion transport
GO:0007165 signal transduction
GO:0007268 chemical synaptic transmission
GO:0007271 synaptic transmission, cholinergic
GO:0007274 neuromuscular synaptic transmission
GO:0034220 ion transmembrane transport
GO:0035094 response to nicotine
GO:0035095 behavioral response to nicotine
GO:0060078 regulation of postsynaptic membrane potential
GO:0060079 excitatory postsynaptic potential

Cellular Component:
GO:0005886 plasma membrane
GO:0005892 acetylcholine-gated channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0045202 synapse
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  JD102714 - Sequence 83738 from Patent EP1572962.
JD199585 - Sequence 180609 from Patent EP1572962.
BC033639 - Homo sapiens cholinergic receptor, nicotinic, alpha 5, mRNA (cDNA clone MGC:45360 IMAGE:5501542), complete cds.
U62434 - Human nicotinic acetylcholine receptor alpha5 subunit precursor, mRNA, complete cds.
AF385586 - Homo sapiens nicotinic cholinergic receptor alpha 5-like mRNA, partial sequence.
M83712 - H.sapiens nicotinic receptor alpha 5 subunit mRNA, complete cds.
CU689678 - Synthetic construct Homo sapiens gateway clone IMAGE:100019540 5' read CHRNA5 mRNA.
DQ893355 - Synthetic construct clone IMAGE:100005985; FLH196541.01X; RZPDo839E08156D cholinergic receptor, nicotinic, alpha 5 (CHRNA5) gene, encodes complete protein.
DQ896674 - Synthetic construct Homo sapiens clone IMAGE:100011134; FLH196537.01L; RZPDo839E08155D cholinergic receptor, nicotinic, alpha 5 (CHRNA5) gene, encodes complete protein.
EU176798 - Synthetic construct Homo sapiens clone IMAGE:100011610; FLH263881.01L; RZPDo839F02247D cholinergic receptor, nicotinic, alpha 5 (CHRNA5) gene, encodes complete protein.
Y08419 - H.sapiens mRNA for nicotinic acetylcholine receptor alpha5 subunit precursor.
AJ584705 - Homo sapiens partial mRNA for neuronal nicotinic acetylcholine receptor alpha 5 subunit, splice variant 1, (CHRNA5 gene).
AJ584706 - Homo sapiens partial mRNA for neuronal nicotinic acetylcholine receptor, alpha5 subunit, splice variant 2, (CHRNA5 gene).
CU675254 - Synthetic construct Homo sapiens gateway clone IMAGE:100018341 3' read CHRNA3 mRNA.
JD251928 - Sequence 232952 from Patent EP1572962.
JD530555 - Sequence 511579 from Patent EP1572962.
JD046441 - Sequence 27465 from Patent EP1572962.
JD239363 - Sequence 220387 from Patent EP1572962.
JD556339 - Sequence 537363 from Patent EP1572962.
JD441387 - Sequence 422411 from Patent EP1572962.
JD564332 - Sequence 545356 from Patent EP1572962.
JD441388 - Sequence 422412 from Patent EP1572962.
JD043108 - Sequence 24132 from Patent EP1572962.
JD329105 - Sequence 310129 from Patent EP1572962.
JD329106 - Sequence 310130 from Patent EP1572962.
JD319314 - Sequence 300338 from Patent EP1572962.
JD036732 - Sequence 17756 from Patent EP1572962.
JD434361 - Sequence 415385 from Patent EP1572962.
JD105346 - Sequence 86370 from Patent EP1572962.
JD420224 - Sequence 401248 from Patent EP1572962.
JD420225 - Sequence 401249 from Patent EP1572962.
JD041466 - Sequence 22490 from Patent EP1572962.
JD173972 - Sequence 154996 from Patent EP1572962.
JD324209 - Sequence 305233 from Patent EP1572962.
JD413003 - Sequence 394027 from Patent EP1572962.
JD513154 - Sequence 494178 from Patent EP1572962.
JD513155 - Sequence 494179 from Patent EP1572962.
JD340903 - Sequence 321927 from Patent EP1572962.
JD482069 - Sequence 463093 from Patent EP1572962.
JD289003 - Sequence 270027 from Patent EP1572962.
JD522474 - Sequence 503498 from Patent EP1572962.
JD454595 - Sequence 435619 from Patent EP1572962.
JD085376 - Sequence 66400 from Patent EP1572962.
JD111292 - Sequence 92316 from Patent EP1572962.
JD548178 - Sequence 529202 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P30532 (Reactome details) participates in the following event(s):

R-HSA-622326 Activation of highly calcium permeable nicotinic acetylcholine receptors
R-HSA-629599 Binding of acetylcholine to highly calcium permeable acetylcholine receptors
R-HSA-629595 Activation of highly calcium permeable postsynaptic nicotinic acetylcholine receptors
R-HSA-629596 Binding of acetylcholine to highly calcium permeable postsynaptic nicotinic acetylcholine receptors
R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors
R-HSA-622323 Presynaptic nicotinic acetylcholine receptors
R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
R-HSA-629602 Activation of Nicotinic Acetylcholine Receptors
R-HSA-622327 Postsynaptic nicotinic acetylcholine receptors
R-HSA-181431 Acetylcholine binding and downstream events
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: ACHA5_HUMAN, ENST00000299565.1, ENST00000299565.2, ENST00000299565.3, ENST00000299565.4, ENST00000299565.5, ENST00000299565.6, ENST00000299565.7, ENST00000299565.8, NACHRA5, NM_001395172, P30532, Q15824, Q99554, uc317mkl.1, uc317mkl.2
UCSC ID: ENST00000299565.9_4
RefSeq Accession: NM_000745.4
Protein: P30532 (aka ACHA5_HUMAN or ACH5_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.