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CHRNA10 cholinergic receptor nicotinic alpha 10 subunit [ Homo sapiens (human) ]

Gene ID: 57053, updated on 11-Apr-2024

Summary

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Official Symbol
CHRNA10provided by HGNC
Official Full Name
cholinergic receptor nicotinic alpha 10 subunitprovided by HGNC
Primary source
HGNC:HGNC:13800
See related
Ensembl:ENSG00000129749 MIM:606372; AllianceGenome:HGNC:13800
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable acetylcholine-gated cation-selective channel activity. Acts upstream of or within positive regulation of cytosolic calcium ion concentration. Predicted to be located in membrane. Predicted to be active in cholinergic synapse and neuron projection. Predicted to be integral component of postsynaptic specialization membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
11p15.4
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (3665587..3671384, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (3730960..3736757, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (3686817..3692614, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3662929-3663642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3081 Neighboring gene ADP-ribosyltransferase 5 Neighboring gene ADP-ribosyltransferase 1 Neighboring gene nucleoporin 98 and 96 precursor Neighboring gene small nucleolar RNA U13 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:3717665-3717885 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:3723311-3723810 Neighboring gene RNA, U6 small nuclear 1143, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Molecular cloning and mapping of the human nicotinic acetylcholine receptor alpha10 (CHRNA10). Lustig LR, et al. Genomics, 2001 May 1. PMID 11350119
  2. Characterization of the human nicotinic acetylcholine receptor subunit alpha (alpha) 9 (CHRNA9) and alpha (alpha) 10 (CHRNA10) in lymphocytes. Peng H, et al. Life Sci, 2004 Dec 3. PMID 15531379
  3. A novel human nicotinic receptor subunit, alpha10, that confers functionality to the alpha9-subunit. Sgard F, et al. Mol Pharmacol, 2002 Jan. PMID 11752216
  4. Association of CHRN genes with "dizziness" to tobacco. Ehringer MA, et al. Am J Med Genet B Neuropsychiatr Genet, 2010 Mar 5. PMID 19760673, Free PMC Article
  5. Hair cell α9α10 nicotinic acetylcholine receptor functional expression regulated by ligand binding and deafness gene products. Gu S, et al. Proc Natl Acad Sci U S A, 2020 Sep 29. PMID 32929005, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hair cell alpha9alpha10 nicotinic acetylcholine receptor functional expression regulated by ligand binding and deafness gene products.
    Title: Hair cell α9α10 nicotinic acetylcholine receptor functional expression regulated by ligand binding and deafness gene products.
  2. A two order of magnitude species difference is reported in potency of alpha-conotoxin RgIA for rat versus human alpha9alpha10 nAChR.
    Title: Molecular basis for the differential sensitivity of rat and human α9α10 nAChRs to α-conotoxin RgIA.
  3. CHRNA10 may have a role in "dizziness" in response to tobacco
    Title: Association of CHRN genes with "dizziness" to tobacco.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.
  6. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetylcholine-gated monoatomic cation-selective channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium channel activity IEA
Inferred from Electronic Annotation
more info
  
enables signaling receptor binding TAS
Traceable Author Statement
more info
 PubMed 
enables transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in detection of mechanical stimulus involved in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
  
involved_in excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
  
involved_in inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in membrane depolarization IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within positive regulation of cytosolic calcium ion concentration IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in regulation of cell population proliferation TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to auditory stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in synaptic transmission, cholinergic TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in axon IEA
Inferred from Electronic Annotation
more info
  
located_in cholinergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of transmembrane transporter complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
neuronal acetylcholine receptor subunit alpha-10
Names
NACHR alpha-10
acetylcholine receptor, nicotinic, alpha 10 (neuronal)
cholinergic receptor, nicotinic alpha 10
cholinergic receptor, nicotinic, alpha 10 (neuronal)
cholinergic receptor, nicotinic, alpha polypeptide 10
nicotinic acetylcholine receptor subunit alpha-10

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001303034.2 → NP_001289963.1  neuronal acetylcholine receptor subunit alpha-10 isoform b

    See identical proteins and their annotated locations for NP_001289963.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site at an internal exon compared to variant 1. This difference results in translation initiation at a downstream in-frame start site through ribosomal re-initiation or leaky scanning. The encoded isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
    Source sequence(s)
    AC060812, AF199235, BC143303
    UniProtKB/Swiss-Prot
    Q9GZZ6
    Conserved Domains (2) summary
    pfam02931
    Location:1 → 29
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:37 → 228
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

  2. NM_001303035.2 → NP_001289964.1  neuronal acetylcholine receptor subunit alpha-10 isoform b

    See identical proteins and their annotated locations for NP_001289964.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses two alternate splice sites at an internal exon compared to variant 1. These differences result in translation initiation at a downstream in-frame start site through ribosomal re-initiation or leaky scanning. The encoded isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
    Source sequence(s)
    AC060812, AF199235, BC136250
    UniProtKB/Swiss-Prot
    Q9GZZ6
    UniProtKB/TrEMBL
    C4IXS7
    Conserved Domains (2) summary
    pfam02931
    Location:1 → 29
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:37 → 228
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

  3. NM_020402.4 → NP_065135.2  neuronal acetylcholine receptor subunit alpha-10 isoform a precursor

    See identical proteins and their annotated locations for NP_065135.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC060812, AF199235
    Consensus CDS
    CCDS7745.1
    UniProtKB/Swiss-Prot
    Q9GZZ6
    UniProtKB/TrEMBL
    C4IXS7
    Related
    ENSP00000250699.2, ENST00000250699.2
    Conserved Domains (3) summary
    TIGR00860
    Location:31 → 442
    LIC; Cation transporter family protein
    pfam02931
    Location:32 → 235
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:243 → 434
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    3665587..3671384 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    3730960..3736757 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9GZZ6.1 GenPept UniProtKB/Swiss-Prot:Q9GZZ6

Gene LinkOut

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