ASIC5

ASIC5
Identifiers
Aliases	ASIC5, ACCN5, HINAC, INAC, acid sensing ion channel subunit family member 5
External IDs	OMIM: 616693; MGI: 1929259; GeneCards: ASIC5
Gene location (Human)
Chr.	Chromosome 4 (human)
End	155,866,277 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	81,928,540 bp
RNA expression pattern
	Top expressed in
	duodenum; ; skin of thigh; ; mouth; ; kidney; ; metanephros; ; oral mucosa; ; salivary gland; ; minor salivary glands; ; human kidney; ; hemolymphoid system;
	Top expressed in
	embryo; ; liver; ; left lobe of liver; ; epithelium of stomach; ; jejunum; ; duodenum; ; choroid plexus of fourth ventricle; ; yolk sac; ; perirhinal cortex; ; superior colliculus;
	More reference expression data
	n/a
Gene ontology
Molecular function	ligand-gated sodium channel activity; proton channel activity; sodium channel activity; acid-sensing ion channel activity;
Cellular component	integral component of membrane; plasma membrane; membrane;
Biological process	ion transmembrane transport; ion transport; sodium ion transmembrane transport; sodium ion transport; proton transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	51802
	58170
	ENSG00000256394; ENSG00000262505
	ENSMUSG00000028008
	Q9NY37
	Q9R0Y1
	NM_017419
	NM_021370
	NP_059115
	NP_067345
	Wikidata
View/Edit Human	View/Edit Mouse

ASIC5 gene is one of the five paralogous genes that encode proteins that form trimeric Acid-sensing ion channels (ASICs) in mammals.^[5] 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.^[6]

Gene

The ASIC genes have splicing variants that encode different proteins that are called isoforms.

Tissue distribution

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

Structure

ASICs can form both homotrimeric (meaning composed of three identical subunits) and heterotrimeric channels.^[7]

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]

Function

This gene encodes a member of the ASIC/ENaC superfamily of proteins.^[8] 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).

References

1 2 3 ENSG00000262505 GRCh38: Ensembl release 89: ENSG00000256394, ENSG00000262505 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028008 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 Hanukoglu I (2017). "ASIC and ENaC type sodium channels: Conformational states and the structures of the ion selectivity filters". The FEBS Journal. 284 (4): 525–545. doi:10.1111/febs.13840. PMID 27580245. S2CID 24402104.
↑ Schaefer L, Sakai H, Mattei M, Lazdunski M, Lingueglia E (April 2000). "Molecular cloning, functional expression and chromosomal localization of an amiloride-sensitive Na(+) channel from human small intestine". FEBS Letters. 471 (2–3): 205–210. Bibcode:2000FEBSL.471..205S. doi:10.1016/s0014-5793(00)01403-4. PMID 10767424.
↑ Babinski K, Catarsi S, Biagini G, Séguéla P (September 2000). "Mammalian ASIC2a and ASIC3 subunits co-assemble into heteromeric proton-gated channels sensitive to Gd3+". The Journal of Biological Chemistry. 275 (37): 28519–28525. doi:10.1074/jbc.M004114200. hdl:11380/304669. PMID 10842183.
↑ Hanukoglu I, Hanukoglu A (January 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.

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 ENSG00000262505 GRCh38: Ensembl release 89: ENSG00000256394, ENSG00000262505 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028008 – 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.

[2017-Hanukoglu-5] 1 2 Hanukoglu I (2017). "ASIC and ENaC type sodium channels: Conformational states and the structures of the ion selectivity filters". The FEBS Journal. 284 (4): 525–545. doi:10.1111/febs.13840. PMID 27580245. S2CID 24402104.

[6] Schaefer L, Sakai H, Mattei M, Lazdunski M, Lingueglia E (April 2000). "Molecular cloning, functional expression and chromosomal localization of an amiloride-sensitive Na(+) channel from human small intestine". FEBS Letters. 471 (2–3): 205–210. Bibcode:2000FEBSL.471..205S. doi:10.1016/s0014-5793(00)01403-4. PMID 10767424.

[7] Babinski K, Catarsi S, Biagini G, Séguéla P (September 2000). "Mammalian ASIC2a and ASIC3 subunits co-assemble into heteromeric proton-gated channels sensitive to Gd3+". The Journal of Biological Chemistry. 275 (37): 28519–28525. doi:10.1074/jbc.M004114200. hdl:11380/304669. PMID 10842183.

[2016-Hanukoglu-8] Hanukoglu I, Hanukoglu A (January 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.

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