Human Gene CHRNA9 (uc003gva.2)
  Description: Homo sapiens cholinergic receptor, nicotinic, alpha 9 (neuronal) (CHRNA9), mRNA.
RefSeq Summary (NM_017581): This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012].
Transcript (Including UTRs)
   Position: hg19 chr4:40,337,346-40,357,234 Size: 19,889 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr4:40,337,485-40,356,537 Size: 19,053 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:40,337,346-40,357,234)mRNA (may differ from genome)Protein (479 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDHuman Cortex Gene ExpressionLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ACHA9_HUMAN
DESCRIPTION: RecName: Full=Neuronal acetylcholine receptor subunit alpha-9; AltName: Full=Nicotinic acetylcholine receptor subunit alpha-9; Short=NACHR alpha-9; Flags: Precursor;
FUNCTION: Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding may induce an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing. This may protect against acoustic trauma. May also regulate keratinocyte adhesion.
SUBUNIT: Can form homo- or hetero-oligomeric channels in conjunction with CHRNA10. The native outer hair cell receptor may be composed of CHRNA9-CHRNA10 hetero-oligomers.
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein (Probable). Cell membrane; Multi-pass membrane protein (Probable).
TISSUE SPECIFICITY: Expressed in cochlea, keratinocytes, pituitary gland, B-cells and T-cells.
MISCELLANEOUS: The hetero-oligomeric receptor composed of CHRNA9 and CHRNA10 has an atypical pharmacological profile, binding several non-nicotinic ligands including strychnine (a glycine receptor antagonist) and atropine (a muscarinic acetylcholine receptor antagonist).
SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 9/CHRNA9 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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CHRNA9
CDC HuGE Published Literature: CHRNA9
Positive Disease Associations: Leukocyte Count
Related Studies:
  1. Leukocyte Count
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: CHRNA9
Diseases sorted by gene-association score: deafness, autosomal recessive 25 (10)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           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: 0.21 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 0.75 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 -49.30139-0.355 Picture PostScript Text
3' UTR -152.32697-0.219 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 Q9UGM1
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 orthologGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
 Protein SequenceProtein Sequence Protein Sequence 
 AlignmentAlignment Alignment 

-  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:0005262 calcium channel activity
GO:0005515 protein binding
GO:0015276 ligand-gated ion channel activity
GO:0022848 acetylcholine-gated cation-selective channel activity

Biological Process:
GO:0006811 ion transport
GO:0006812 cation transport
GO:0006816 calcium ion transport
GO:0007165 signal transduction
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007605 sensory perception of sound
GO:0034220 ion transmembrane transport
GO:0042472 inner ear morphogenesis
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound
GO:0060078 regulation of postsynaptic membrane potential
GO:0060079 excitatory postsynaptic potential
GO:0070373 negative regulation of ERK1 and ERK2 cascade
GO:0070588 calcium ion transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of 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
  BC113549 - Homo sapiens cholinergic receptor, nicotinic, alpha 9, mRNA (cDNA clone MGC:142109 IMAGE:8322601), complete cds.
BC113575 - Homo sapiens cholinergic receptor, nicotinic, alpha 9, mRNA (cDNA clone MGC:142135 IMAGE:8322627), complete cds.
AJ243342 - Homo sapiens mRNA for nicotinic acetylcholine receptor alpha 9 subunit (NACHRA9 gene).
AB463495 - Synthetic construct DNA, clone: pF1KB7179, Homo sapiens CHRNA9 gene for cholinergic receptor, nicotinic, alpha 9, without stop codon, in Flexi system.
HQ258272 - Synthetic construct Homo sapiens clone IMAGE:100072581 cholinergic receptor, nicotinic, alpha 9 (CHRNA9) gene, encodes complete protein.
KJ899154 - Synthetic construct Homo sapiens clone ccsbBroadEn_08548 CHRNA9 gene, encodes complete protein.
BC111595 - Synthetic construct Homo sapiens clone IMAGE:40080560, MGC:133423 CHRNA9 protein (CHRNA9) mRNA, encodes complete protein.
AF227732 - Homo sapiens nicotinic acetylcholine receptor alpha 9 subunit mRNA, partial cds.
JD242234 - Sequence 223258 from Patent EP1572962.
JD547552 - Sequence 528576 from Patent EP1572962.
JD093671 - Sequence 74695 from Patent EP1572962.
JD560458 - Sequence 541482 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 Q9UGM1 (Reactome details) participates in the following event(s):

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-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
R-HSA-622327 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: ACHA9_HUMAN, NACHRA9, NM_017581, NP_060051, Q14CY7, Q4W5A2, Q9NYV2, Q9UGM1, uc003gva.1
UCSC ID: uc003gva.2
RefSeq Accession: NM_017581
Protein: Q9UGM1 (aka ACHA9_HUMAN or ACH9_HUMAN)
CCDS: CCDS3459.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_017581.3
exon count: 5CDS single in 3' UTR: no RNA size: 2292
ORF size: 1440CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3018.50frame shift in genome: no % Coverage: 99.30
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.