ASIC3 acid sensing ion channel subunit 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASIC3provided by HGNC
Official Full Name: acid sensing ion channel subunit 3provided by HGNC
Primary source: HGNC:HGNC:101
See related: Ensembl:ENSG00000213199 MIM:611741; AllianceGenome:HGNC:101
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACCN3; TNaC1; DRASIC; SLNAC1
Summary: This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
Expression: Broad expression in testis (RPKM 3.0), brain (RPKM 2.0) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q36.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (151048292..151052756)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (152221380..152225844)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (150745379..150749843)

Chromosome 7 - NC_000007.14 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 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?

Acid-sensing ion channel 3 is a new potential therapeutic target for the control of glioblastoma cancer stem cells growth.
Title: Acid-sensing ion channel 3 is a new potential therapeutic target for the control of glioblastoma cancer stem cells growth.
Lysophosphatidylcholine 16:0 mediates chronic joint pain associated to rheumatic diseases through acid-sensing ion channel 3.
Title: Lysophosphatidylcholine 16:0 mediates chronic joint pain associated to rheumatic diseases through acid-sensing ion channel 3.
Upregulation of acid sensing ion channels is associated with esophageal hypersensitivity in GERD.
Title: Upregulation of acid sensing ion channels is associated with esophageal hypersensitivity in GERD.
ASIC1 and ASIC3 mediate cellular senescence of human nucleus pulposus mesenchymal stem cells during intervertebral disc degeneration.
Title: ASIC1 and ASIC3 mediate cellular senescence of human nucleus pulposus mesenchymal stem cells during intervertebral disc degeneration.
Heartburn sensation in nonerosive reflux disease: pattern of superficial sensory nerves expressing TRPV1 and epithelial cells expressing ASIC3 receptors.
Title: Heartburn sensation in nonerosive reflux disease: pattern of superficial sensory nerves expressing TRPV1 and epithelial cells expressing ASIC3 receptors.
TRPV1 Responses in the Cerebellum Lobules VI, VII, VIII Using Electroacupuncture Treatment for Chronic Pain and Depression Comorbidity in a Murine Model.
Title: TRPV1 Responses in the Cerebellum Lobules VI, VII, VIII Using Electroacupuncture Treatment for Chronic Pain and Depression Comorbidity in a Murine Model.
The present review discusses the dual nature of ASIC3 in joint inflammation with possible mechanisms.
Title: Dual role of acid-sensing ion channels 3 in rheumatoid arthritis: destruction or protection?
Acidic pH resulted in an increase in ASIC-3 expressionin the discs of paitents with intervertebral disc degeneration.
Title: Acidic pH promotes intervertebral disc degeneration: Acid-sensing ion channel -3 as a potential therapeutic target.
the data demonstrate a functional link between ASICs and [Ca(2+)]i/RhoA pathway, which contributes to the acidity-induced epithelial-mesenchymal transition.
Title: ASIC1 and ASIC3 contribute to acidity-induced EMT of pancreatic cancer through activating Ca(2+)/RhoA pathway.
Respiratory syncytial virus and measles virus infection upregulates ASICS3 expression in bronchial epithelial cells.
Title: Respiratory virus infection up-regulates TRPV1, TRPA1 and ASICS3 receptors on airway cells.

Submit: New GeneRIF Correction See all GeneRIFs (33)

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:486402

RH92393 (e-PCR)
- UniSTS:89087

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enterobactin transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables ligand-gated sodium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables monoatomic cation channel activity	TAS Traceable Author Statement more info	PubMed
enables pH-gated monoatomic ion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium channel activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in detection of chemical stimulus involved in sensory perception of pain	IEA Inferred from Electronic Annotation more info
involved_in detection of mechanical stimulus involved in sensory perception of pain	IEA Inferred from Electronic Annotation more info
involved_in detection of temperature stimulus involved in sensory perception of pain	IEA Inferred from Electronic Annotation more info
involved_in enterobactin transport	IEA Inferred from Electronic Annotation more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in response to acidic pH	IEA Inferred from Electronic Annotation more info
involved_in response to heat	IEA Inferred from Electronic Annotation more info
involved_in sensory perception	TAS Traceable Author Statement more info	PubMed
involved_in sensory perception of sour taste	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: acid-sensing ion channel 3

Names: acid sensing (proton gated) ion channel 3; amiloride-sensitive cation channel 3, testis; modulatory subunit of ASIC2a; neuronal amiloride-sensitive cation channel 3; proton-gated cation channel subunit; testis sodium channel 1

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_004769.4 → NP_004760.1 acid-sensing ion channel 3 isoform a

See identical proteins and their annotated locations for NP_004760.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses an alternate splice site in the 3' coding region, compared to variant 2. The resulting protein (isoform a) has a shorter and distinct C-terminus, compared to isoform b.

Source sequence(s)

AF095897, AK313926

Consensus CDS

CCDS5916.1

UniProtKB/Swiss-Prot

B2R9V0, O60263, O75906, Q59FN9, Q9UER8, Q9UHC3, Q9UHC4

UniProtKB/TrEMBL

A0A090N7X8

Related

ENSP00000344838.5, ENST00000349064.10

Conserved Domains (1) summary

cl02990
Location:20 → 514

ASC; Amiloride-sensitive sodium channel
NM_020321.3 → NP_064717.1 acid-sensing ion channel 3 isoform b

See identical proteins and their annotated locations for NP_064717.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (b).

Source sequence(s)

AC010973, AF195025, AI580095, AK313926

Consensus CDS

CCDS5915.1

UniProtKB/TrEMBL

A0A090N8Q1

Related

ENSP00000297512.8, ENST00000297512.12

Conserved Domains (1) summary

cl02990
Location:20 → 534

ASC; Amiloride-sensitive sodium channel
NM_020322.3 → NP_064718.1 acid-sensing ion channel 3 isoform c

See identical proteins and their annotated locations for NP_064718.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon and uses an alternate splice site in the 3' coding region, compared to variant 2. The resulting protein (isoform c) has a shorter and distinct C-terminus, compared to isoform b.

Source sequence(s)

AC010973, AF095897, AI580095, AK313926

Consensus CDS

CCDS5914.1

UniProtKB/TrEMBL

A0A090N8Z6

Related

ENSP00000350600.4, ENST00000357922.8

Conserved Domains (1) summary

cl02990
Location:20 → 523

ASC; Amiloride-sensitive sodium channel

RNA

NR_046401.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate internal exon and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB209421, AC010973, AI580095, AK313926

Related

ENST00000377904.8