ASIC3

Last updated
ASIC3
Identifiers
Aliases ASIC3 , ACCN3, DRASIC, SLNAC1, TNaC1, acid sensing ion channel subunit 3
External IDs OMIM: 611741 MGI: 2159339 HomoloGene: 20999 GeneCards: ASIC3
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004769
NM_020321
NM_020322

NM_183000
NM_001310474

RefSeq (protein)

NP_004760
NP_064717
NP_064718

NP_001297403
NP_892045

Location (UCSC) Chr 7: 151.05 – 151.05 Mb Chr 5: 24.62 – 24.62 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Acid-sensing ion channel 3 (ASIC3) also known as amiloride-sensitive cation channel 3 (ACCN3) or testis sodium channel 1 (TNaC1) is a protein that in humans is encoded by the ASIC3 gene. The ASIC3 gene is one of the five paralogous genes that encode proteins that form trimeric acid-sensing ion channels (ASICs) in mammals. [5] The cDNA of this gene was first cloned in 1998. [6] [7] The ASIC genes have splicing variants that encode different proteins that are called isoforms.

Contents

These genes are mainly expressed in the central and peripheral nervous system.

ASICs can form both homotrimeric (meaning composed of three identical subunits) and heterotrimeric channels. [8]

Structure and function

This gene encodes a member of the ASIC/ENaC superfamily of proteins. [9] The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane (TM) regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The TM regions are generally symbolized as TM1 (clone to N-terminus) and TM2 (close to C-terminus).

The pore of the channel through which ions selectively flow from the extracellular side into the cytoplasm is formed by the three TM2 regions of the trimer. [5]

Interactions

ASIC3 has been shown to interact with LIN7B, [10] GOPC [10] and MAGI1. [10]

Related Research Articles

<span class="mw-page-title-main">Epithelial sodium channel</span> Group of membrane proteins

The epithelial sodium channel(ENaC), (also known as amiloride-sensitive sodium channel) is a membrane-bound ion channel that is selectively permeable to sodium ions (Na+). It is assembled as a heterotrimer composed of three homologous subunits α or δ, β, and γ, These subunits are encoded by four genes: SCNN1A, SCNN1B, SCNN1G, and SCNN1D. The ENaC is involved primarily in the reabsorption of sodium ions at the collecting ducts of the kidney's nephrons. In addition to being implicated in diseases where fluid balance across epithelial membranes is perturbed, including pulmonary edema, cystic fibrosis, COPD and COVID-19, proteolyzed forms of ENaC function as the human salt taste receptor.

<span class="mw-page-title-main">Neutral and basic amino acid transport protein rBAT</span> Protein-coding gene in the species Homo sapiens

Neutral and basic amino acid transport protein rBAT is a protein that in humans is encoded by the SLC3A1 gene.

<span class="mw-page-title-main">NEDD4L</span> Protein-coding gene in the species Homo sapiens

Neural precursor cell expressed developmentally downregulated gene 4-like (NEDD4L) or NEDD4-2 is an enzyme of the NEDD4 family. In human the protein is encoded by the NEDD4L gene. In mouse the protein is commonly known as NEDD4-2 and the gene Nedd4-2.

<span class="mw-page-title-main">PICK1</span> Protein-coding gene in the species Homo sapiens

Protein Interacting with C Kinase - 1 is a protein that in humans is encoded by the PICK1 gene.

<span class="mw-page-title-main">GPRC6A</span> Protein-coding gene in the species Homo sapiens

G protein-coupled receptor family C group 6 member A (GPRC6A) is a protein that in humans is encoded by the GPRC6A gene. This protein functions as a receptor of L-α-amino acids, cations, osteocalcin, and steroids. It is a membrane androgen receptor.

<span class="mw-page-title-main">SCNN1B</span> Protein-coding gene in the species Homo sapiens

The SCNN1B gene encodes for the β subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1A, SCNN1G, and SCNN1D.

<span class="mw-page-title-main">SCNN1A</span> Protein-coding gene in the species Homo sapiens

The SCNN1A gene encodes for the α subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1B, SCNN1G, and SCNN1D.

<span class="mw-page-title-main">SCNN1G</span> Protein-coding gene in the species Homo sapiens

The SCNN1G gene encodes for the γ subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1A, SCNN1B, and SCNN1D.

<span class="mw-page-title-main">Syntrophin, alpha 1</span> Protein-coding gene in the species Homo sapiens

Alpha-1-syntrophin is a protein that in humans is encoded by the SNTA1 gene. Alpha-1 syntrophin is a signal transducing adaptor protein and serves as a scaffold for various signaling molecules. Alpha-1 syntrophin contains a PDZ domain, two Pleckstrin homology domain and a 'syntrophin unique' domain.

<span class="mw-page-title-main">GOPC</span> Protein-coding gene in the species Homo sapiens

Golgi-associated PDZ and coiled-coil motif-containing protein is a protein that in humans is encoded by the GOPC gene.

<span class="mw-page-title-main">ASIC1</span> Protein-coding gene in humans

Acid-sensing ion channel 1 (ASIC1) also known as amiloride-sensitive cation channel 2, neuronal (ACCN2) or brain sodium channel 2 (BNaC2) is a protein that in humans is encoded by the ASIC1 gene. The ASIC1 gene is one of the five paralogous genes that encode proteins that form trimeric acid-sensing ion channels (ASICs) in mammals. The cDNA of this gene was first cloned in 1996. The ASIC genes have splicing variants that encode different proteins that are called isoforms.

<span class="mw-page-title-main">LIN7B</span> Protein-coding gene in humans

Lin-7 homolog B is a protein that in humans is encoded by the LIN7B gene.

<span class="mw-page-title-main">ASIC2</span> Protein-coding gene in the species Homo sapiens

Acid-sensing ion channel 2 (ASIC2) also known as amiloride-sensitive cation channel 1, neuronal (ACCN1) or brain sodium channel 1 (BNaC1) is a protein that in humans is encoded by the ASIC2 gene. The ASIC2 gene is one of the five paralogous genes that encode proteins that form trimeric acid-sensing ion channels (ASICs) in mammals. The cDNA of this gene was first cloned in 1996. The ASIC genes have splicing variants that encode different proteins that are called isoforms.

<span class="mw-page-title-main">P2RX5</span> Protein-coding gene in the species Homo sapiens

P2X purinoceptor 5 is a protein that in humans is encoded by the P2RX5 gene.

<span class="mw-page-title-main">SCNN1D</span> Protein-coding gene in the species Homo sapiens

The SCNN1D gene encodes for the δ (delta) subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1A, SCNN1B, and SCNN1G.

<span class="mw-page-title-main">Psalmotoxin</span>

Psalmotoxin (PcTx1) is a spider toxin from the venom of the Trinidad tarantula Psalmopoeus cambridgei. It selectively blocks Acid Sensing Ion Channel 1-a (ASIC1a), which is a proton-gated sodium channel.

<span class="mw-page-title-main">Acid-sensing ion channel</span> Class of transport proteins

Acid-sensing ion channels (ASICs) are neuronal voltage-insensitive sodium channels activated by extracellular protons permeable to Na+. ASIC1 also shows low Ca2+ permeability. ASIC proteins are a subfamily of the ENaC/Deg superfamily of ion channels. These genes have splice variants that encode for several isoforms that are marked by a suffix. In mammals, acid-sensing ion channels (ASIC) are encoded by five genes that produce ASIC protein subunits: ASIC1, ASIC2, ASIC3, ASIC4, and ASIC5. Three of these protein subunits assemble to form the ASIC, which can combine into both homotrimeric and heterotrimeric channels typically found in both the central nervous system and peripheral nervous system. However, the most common ASICs are ASIC1a and ASIC1a/2a and ASIC3. ASIC2b is non-functional on its own but modulates channel activity when participating in heteromultimers and ASIC4 has no known function. On a broad scale, ASICs are potential drug targets due to their involvement in pathological states such as retinal damage, seizures, and ischemic brain injury.

<span class="mw-page-title-main">ASIC4</span> Protein-coding gene in the species Homo sapiens

Acid-sensing ion channel 4 (ASIC4) also known as amiloride-sensitive cation channel 4 (ACCN4) is a protein that in humans is encoded by the ASIC4 gene. The ASIC4 gene is one of the five paralogous genes that encode proteins that form trimeric acid-sensing ion channels (ASICs) in mammals. The cDNA of this gene was first cloned in 2000. The ASIC genes have splicing variants that encode different proteins that are called isoforms.

<span class="mw-page-title-main">HVCN1</span> Protein-coding gene in the species Homo sapiens

Voltage-gated hydrogen channel 1 is a protein that in humans is encoded by the HVCN1 gene.

ASIC5 gene is one of the five paralogous genes that encode proteins that form trimeric Acid-sensing ion channels (ASICs) in mammals. Aliases previously used for this gene include ACCN5 and BASIC. The protein encoded by this gene does not appear to be acid responsive. The cDNA coding for this protein was first characterized in 2000. The ASIC genes have splicing variants that encode different proteins that are called isoforms.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000213199 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038276 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 Hanukoglu I (2017). "ASIC and ENaC type sodium channels: Conformational states and the structures of the ion selectivity filters". FEBS Journal. 284 (4): 525–545. doi:10.1111/febs.13840. PMID   27580245. S2CID   24402104.
  6. Ishibashi K, Marumo F (June 1998). "Molecular cloning of a DEG/ENaC sodium channel cDNA from human testis". Biochem. Biophys. Res. Commun. 245 (2): 589–93. doi:10.1006/bbrc.1998.8483. PMID   9571199.
  7. de Weille JR, Bassilana F, Lazdunski M, Waldmann R (October 1998). "Identification, functional expression and chromosomal localisation of a sustained human proton-gated cation channel". FEBS Lett. 433 (3): 257–60. Bibcode:1998FEBSL.433..257D. doi: 10.1016/S0014-5793(98)00916-8 . PMID   9744806. S2CID   24431941.
  8. Babinski K, Catarsi S, Biagini G, Séguéla P (Sep 2000). "Mammalian ASIC2a and ASIC3 subunits co-assemble into heteromeric proton-gated channels sensitive to Gd3+". The Journal of Biological Chemistry. 275 (37): 28519–25. doi: 10.1074/jbc.M004114200 . hdl: 11380/304669 . PMID   10842183.
  9. Hanukoglu I, Hanukoglu A (Jan 2016). "Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases". Gene. 579 (2): 95–132. doi:10.1016/j.gene.2015.12.061. PMC   4756657 . PMID   26772908.
  10. 1 2 3 Hruska-Hageman AM, Benson CJ, Leonard AS, Price MP, Welsh MJ (November 2004). "PSD-95 and Lin-7b interact with acid-sensing ion channel-3 and have opposite effects on H+- gated current". J. Biol. Chem. 279 (45): 46962–8. doi: 10.1074/jbc.M405874200 . PMID   15317815.

Further reading