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

Gene ID: 9311, updated on 23-Nov-2021

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
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
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Genomic context

See ASIC3 in Genome Data Viewer
Location:
7q36.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (151048292..151052756)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150745379..150749843)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene nitric oxide synthase 3 Neighboring gene autophagy related 9B Neighboring gene ATP binding cassette subfamily B member 8 Neighboring gene cyclin dependent kinase 5 Neighboring gene solute carrier family 4 member 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: ABCB8

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acid-sensing ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cation channel activity TAS
Traceable Author Statement
more info
PubMed 
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
PubMed 
enables sodium channel activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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)

  1. NM_004769.4NP_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
    Q9UHC3
    UniProtKB/TrEMBL
    A0A090N7X8
    Related
    ENSP00000344838.5, ENST00000349064.10
    Conserved Domains (1) summary
    cl02990
    Location:20514
    ASC; Amiloride-sensitive sodium channel
  2. NM_020321.3NP_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/Swiss-Prot
    Q9UHC3
    UniProtKB/TrEMBL
    A0A090N8Q1
    Related
    ENSP00000297512.8, ENST00000297512.12
    Conserved Domains (1) summary
    cl02990
    Location:20534
    ASC; Amiloride-sensitive sodium channel
  3. NM_020322.3NP_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/Swiss-Prot
    Q9UHC3
    UniProtKB/TrEMBL
    A0A090N8Z6
    Related
    ENSP00000350600.4, ENST00000357922.8
    Conserved Domains (1) summary
    cl02990
    Location:20523
    ASC; Amiloride-sensitive sodium channel

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    151048292..151052756
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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