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

    Gene ID: 57053, updated on 14-Nov-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 monoatomic 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 part of transmembrane transporter complex. Predicted to be active in cholinergic synapse; neuron projection; and postsynaptic specialization membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

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    See CHRNA10 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (3665587..3671384, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (3730960..3736757, complement)
    RS_2024_09 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 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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    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 Variation Viewer (GRCh37.p13)

    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 calcium channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables excitatory extracellular ligand-gated monoatomic ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serotonin-gated monoatomic cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IBA
    Inferred from Biological aspect of Ancestor
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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