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

Summary

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, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
CHRNA10 may have a role in "dizziness" in response to tobacco
Title: Association of CHRN genes with "dizziness" to tobacco.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483337

CHRNA10_67.2 (e-PCR)
- UniSTS:280496

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)

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
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
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