CHRNA3
Neuronal acetylcholine receptor subunit alpha-3
Also known as: ACHA3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P32297
- Gene
- CHRNA3
- Ensembl
- ENSG00000080644
- Chromosome
- 15
- Canonical length
- 505 aa
- Protein class
- Disease related genes, FDA approved drug targets, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nuclear speckles,Plasma membrane,Primary cilium tip,Primary cilium transition zone,Basal body,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
505 residues, UniProt reviewed canonical sequence.
>P32297|CHRNA3
1 MGSGPLSLPL ALSPPRLLLL LLLSLLPVAR ASEAEHRLFE RLFEDYNEII RPVANVSDPV
61 IIHFEVSMSQ LVKVDEVNQI METNLWLKQI WNDYKLKWNP SDYGGAEFMR VPAQKIWKPD
121 IVLYNNAVGD FQVDDKTKAL LKYTGEVTWI PPAIFKSSCK IDVTYFPFDY QNCTMKFGSW
181 SYDKAKIDLV LIGSSMNLKD YWESGEWAII KAPGYKHDIK YNCCEEIYPD ITYSLYIRRL
241 PLFYTINLII PCLLISFLTV LVFYLPSDCG EKVTLCISVL LSLTVFLLVI TETIPSTSLV
301 IPLIGEYLLF TMIFVTLSIV ITVFVLNVHY RTPTTHTMPS WVKTVFLNLL PRVMFMTRPT
361 SNEGNAQKPR PLYGAELSNL NCFSRAESKG CKEGYPCQDG MCGYCHHRRI KISNFSANLT
421 RSSSSESVDA VLSLSALSPE IKEAIQSVKY IAENMKAQNE AKEIQDDWKY VAMVIDRIFL
481 WVFTLVCILG TAGLFLQPLM AREDALocalizationUniProt · AlphaFold · HPA
Whether an antibody against CHRNA3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 61 nTPM
Expression across tissuesHPA
Tissue
- thymus: 61 nTPM
- retina: 50 nTPM
- adrenal gland: 37 nTPM
- colon: 8.2 nTPM
- appendix: 4.8 nTPM
- cerebellum: 4.8 nTPM
Single-cell type
- retinal pigment epithelial cells: 503 nCPM
- cone photoreceptor cells: 159 nCPM
- adrenal medulla cells: 117 nCPM
- oocytes: 32 nCPM
- brain inhibitory neurons: 11 nCPM
- cardiomyocytes: 7.9 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- pons: 23 nTPM
- thalamus: 21 nTPM
- cerebellum: 15 nTPM
- midbrain: 14 nTPM
- amygdala: 11 nTPM
- medulla oblongata: 7.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CHRNA3.
Disease | AllUniProt
Conditions CHRNA3 is implicated in, by any mechanism.
- Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT (BAIPRCK) MIM:191800
Disease | GeneticClinVar
16 pathogenic / likely-pathogenic of 201 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Urinary bladder, atony of
- SMOKING AS A QUANTITATIVE TRAIT LOCUS 3
- Amyotrophic lateral sclerosis
- CHRNA3-related disorder
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.15
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.73
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- acetylcholine receptor signaling pathway
- behavioral response to nicotine
- excitatory postsynaptic potential
- locomotory behavior
- membrane depolarization
- monoatomic ion transmembrane transport
- monoatomic ion transport
- nervous system development
- neuromuscular synaptic transmission
- presynaptic modulation of chemical synaptic transmission
- regulation of dendrite morphogenesis
- regulation of membrane potential
- regulation of smooth muscle contraction
- response to acetylcholine
- response to nicotine
- signal transduction
- synaptic transmission involved in micturition
- synaptic transmission, cholinergic
- regulation of acetylcholine secretion, neurotransmission
Molecular functions
- acetylcholine binding
- acetylcholine receptor activity
- acetylcholine-gated monoatomic cation-selective channel activity
- ligand-gated monoatomic ion channel activity
Cellular components
- acetylcholine-gated channel complex
- cation channel complex
- ciliary basal body
- ciliary tip
- ciliary transition zone
- cytosol
- dendrite
- endoplasmic reticulum
- Golgi apparatus
- membrane
- neuron projection
- neuronal cell body
- neurotransmitter receptor complex
- nuclear speck
- nucleolus
- plasma membrane
- plasma membrane raft
- postsynaptic membrane
- presynapse
- synapse
Protein domainsUniProt · Pfam · InterPro
- Nicotinic acetylcholine receptor
- Neurotransmitter-gated ion-channel transmembrane domain
- Neurotransmitter-gated ion-channel
- Neurotransmitter-gated ion-channel ligand-binding domain
- Neurotransmitter-gated ion-channel, conserved site
- Neurotransmitter-gated ion-channel transmembrane domain superfamily
- Neurotransmitter-gated ion-channel ligand-binding domain superfamily
- Neuronal acetylcholine receptor
- Neurotransmitter-gated ion-channel ligand binding domain
- Neurotransmitter-gated ion-channel transmembrane region
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CHRNA3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CHRNA3 as an antibody target. Whether an autoantibody or antibody against CHRNA3 could matter depends on whether native CHRNA3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CHRNA3 is annotated at the cell surface, where native CHRNA3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CHRNA3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...