Human Gene CHRNA3 (ENST00000326828.6) from GENCODE V44
  Description: Homo sapiens cholinergic receptor nicotinic alpha 3 subunit (CHRNA3), transcript variant 1, mRNA. (from RefSeq NM_000743)
RefSeq Summary (NM_000743): This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009].
Gencode Transcript: ENST00000326828.6
Gencode Gene: ENSG00000080644.16
Transcript (Including UTRs)
   Position: hg38 chr15:78,595,309-78,620,996 Size: 25,688 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr15:78,596,604-78,620,794 Size: 24,191 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:78,595,309-78,620,996)mRNA (may differ from genome)Protein (505 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ACHA3_HUMAN
DESCRIPTION: RecName: Full=Neuronal acetylcholine receptor subunit alpha-3; 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 is composed of two different types of subunits: alpha and beta. Alpha-3 subunit can be combined to beta- 2 or beta-4 to give rise to functional receptors. Interacts with RIC3; which is required for proper folding and assembly.
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
POLYMORPHISM: Genetic variations in CHRNA3 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- 3/CHRNA3 sub-subfamily.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: CHRNA3
Diseases sorted by gene-association score: lung cancer susceptibility 2* (407), visceral myopathy (14), autosomal dominant nocturnal frontal lobe epilepsy (9), substance dependence (9), cocaine dependence (7), cannabis abuse (6), nicotine dependence, protection against (6), lung cancer (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.24 RPKM in Colon - Sigmoid
Total median expression: 19.30 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 -115.20202-0.570 Picture PostScript Text
3' UTR -334.701295-0.258 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

ModBase Predicted Comparative 3D Structure on P32297
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-  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
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  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:0022850 serotonin-gated cation channel activity
GO:0042166 acetylcholine binding

Biological Process:
GO:0006811 ion transport
GO:0006940 regulation of smooth muscle contraction
GO:0007165 signal transduction
GO:0007171 activation of transmembrane receptor protein tyrosine kinase activity
GO:0007210 serotonin receptor signaling pathway
GO:0007271 synaptic transmission, cholinergic
GO:0007399 nervous system development
GO:0007626 locomotory behavior
GO:0014056 regulation of acetylcholine secretion, neurotransmission
GO:0034220 ion transmembrane transport
GO:0035095 behavioral response to nicotine
GO:0042391 regulation of membrane potential
GO:0048814 regulation of dendrite morphogenesis
GO:0060079 excitatory postsynaptic potential
GO:0060084 synaptic transmission involved in micturition
GO:0095500 acetylcholine receptor signaling pathway
GO:1905144 response to acetylcholine

Cellular Component:
GO:0005886 plasma membrane
GO:0005892 acetylcholine-gated channel complex
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030425 dendrite
GO:0043025 neuronal cell body
GO:0044853 plasma membrane raft
GO:0045202 synapse
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  M37981 - Human alpha-3 neuronal nicotinic acetylcholine receptor subunit mRNA, complete cds.
AJ584707 - Homo sapiens partial mRNA for neuronal nicotinic acetylcholine receptor, alpha3 subunit, splice variant 1a, (CHRNA3 gene).
AJ584708 - Homo sapiens partial mRNA for neuronal nicotinic acetylcholine receptor, alpha3 subunit, splice variant 1b, (CHRNA3 gene).
BC006114 - Homo sapiens cholinergic receptor, nicotinic, alpha 3, mRNA (cDNA clone MGC:12991 IMAGE:3503197), complete cds.
KJ890913 - Synthetic construct Homo sapiens clone ccsbBroadEn_00307 CHRNA3 gene, encodes complete protein.
BT006646 - Homo sapiens cholinergic receptor, nicotinic, alpha polypeptide 3 mRNA, complete cds.
AJ584709 - Homo sapiens partial mRNA for neuronal nicotinic acetylcholine receptor, alpha3 subunit, splice variant 2, (CHRNA3 gene).
BC000513 - Homo sapiens cholinergic receptor, nicotinic, alpha 3, mRNA (cDNA clone MGC:8545 IMAGE:2822768), complete cds.
BC001642 - Homo sapiens cholinergic receptor, nicotinic, alpha 3, mRNA (cDNA clone MGC:2112 IMAGE:2822768), complete cds.
BC002996 - Homo sapiens cholinergic receptor, nicotinic, alpha 3, mRNA (cDNA clone MGC:3862 IMAGE:2822768), complete cds.
BC098443 - Homo sapiens cholinergic receptor, nicotinic, alpha 3, mRNA (cDNA clone MGC:104879 IMAGE:3508233), complete cds.
JD058267 - Sequence 39291 from Patent EP1572962.
JD393573 - Sequence 374597 from Patent EP1572962.
JD082556 - Sequence 63580 from Patent EP1572962.
JD288787 - Sequence 269811 from Patent EP1572962.
JD094535 - Sequence 75559 from Patent EP1572962.
JD042026 - Sequence 23050 from Patent EP1572962.
JD183383 - Sequence 164407 from Patent EP1572962.
JD083897 - Sequence 64921 from Patent EP1572962.
AK298195 - Homo sapiens cDNA FLJ57492 complete cds, highly similar to Neuronal acetylcholine receptor protein subunit alpha-3 precursor.
JD058765 - Sequence 39789 from Patent EP1572962.
JD508488 - Sequence 489512 from Patent EP1572962.
U62432 - Human nicotinic acetylcholine receptor alpha3 subunit precursor, mRNA, complete cds.
JD551412 - Sequence 532436 from Patent EP1572962.
JD164285 - Sequence 145309 from Patent EP1572962.
M86383 - Homo sapiens nicotinic acetylcholine receptor alpha 3 subunit precursor, mRNA, complete cds.
JD349027 - Sequence 330051 from Patent EP1572962.
X53559 - H.sapiens Hachr alpha-3 mRNA for mature neuronal nicotinic acetylcholine receptor alpha-3 subunit.
Y08418 - Homo sapiens mRNA for nicotinic acetylcholine receptor alpha3 subunit precursor.
BT006897 - Homo sapiens cholinergic receptor, nicotinic, alpha polypeptide 3 mRNA, complete cds.
KJ896606 - Synthetic construct Homo sapiens clone ccsbBroadEn_06000 CHRNA3 gene, encodes complete protein.
KR709910 - Synthetic construct Homo sapiens clone CCSBHm_00007692 CHRNA3 (CHRNA3) mRNA, encodes complete protein.
AF385584 - Homo sapiens nicotinic cholinergic receptor alpha 3 (CHRNA3) mRNA, partial cds.
CU675253 - Synthetic construct Homo sapiens gateway clone IMAGE:100018341 5' read CHRNA3 mRNA.
CU674246 - Synthetic construct Homo sapiens gateway clone IMAGE:100017379 5' read CHRNA3 mRNA.
AK303376 - Homo sapiens cDNA FLJ61747 complete cds.
JD129058 - Sequence 110082 from Patent EP1572962.
JD405831 - Sequence 386855 from Patent EP1572962.
JD124980 - Sequence 106004 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein P32297 (Reactome details) participates in the following event(s):

R-HSA-622325 Activation of highly sodium permeable nicotinic acetylcholine receptors
R-HSA-629588 Binding of acetylcholine to highly sodium permeable acetylcholine receptors
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-629587 Highly sodium permeable acetylcholine nicotinic receptors
R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors
R-HSA-622323 Presynaptic nicotinic acetylcholine receptors
R-HSA-622327 Postsynaptic nicotinic acetylcholine receptors
R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
R-HSA-629602 Activation of 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: ACHA3_HUMAN, ENST00000326828.1, ENST00000326828.2, ENST00000326828.3, ENST00000326828.4, ENST00000326828.5, NACHRA3, NM_000743, P32297, Q15823, Q4KMN8, Q86U77, Q96RH3, Q99553, Q9BQ93, Q9BRR4, uc002bec.1, uc002bec.2, uc002bec.3, uc002bec.4, uc002bec.5
UCSC ID: ENST00000326828.6
RefSeq Accession: NM_000743
Protein: P32297 (aka ACHA3_HUMAN or ACH3_HUMAN)
CCDS: CCDS10305.1

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