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ASIC1

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Protein-coding gene in humans
ASIC1
Identifiers
AliasesASIC1, ACCN2, ASIC, BNaC2, acid sensing ion channel subunit 1
External IDsOMIM: 602866; MGI: 1194915; HomoloGene: 121755; GeneCards: ASIC1; OMA:ASIC1 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)
Chromosome 12 (human)Genomic location for ASIC1Genomic location for ASIC1
Band12q13.12Start50,057,548 bp
End50,083,611 bp
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)
Chromosome 15 (mouse)Genomic location for ASIC1Genomic location for ASIC1
Band15|15 F1Start99,568,249 bp
End99,599,011 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right hemisphere of cerebellum

  • ganglionic eminence

  • putamen

  • caudate nucleus

  • nucleus accumbens

  • right frontal lobe

  • Amygdala

  • Hypothalamus

  • prefrontal cortex

  • Brodmann area 9
Top expressed in
  • superior frontal gyrus

  • cerebellar cortex

  • primary visual cortex

  • trigeminal ganglion

  • nucleus accumbens

  • central gray substance of midbrain

  • superior colliculus

  • Rostral migratory stream

  • facial motor nucleus

  • dentate gyrus of hippocampal formation granule cell
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

41

11419

Ensembl

ENSG00000110881

ENSMUSG00000023017

UniProt

P78348

Q6NXK8

RefSeq (mRNA)

NM_001095
NM_001256830
NM_020039

NM_001289791
NM_009597

RefSeq (protein)

NP_001086
NP_001243759
NP_064423

NP_001276720
NP_033727

Location (UCSC)Chr 12: 50.06 – 50.08 MbChr 15: 99.57 – 99.6 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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.

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.

Structure and function

This gene encodes a member of the ASIC/ENaC superfamily of proteins. 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.

Interactions

ASIC1 has been shown to interact with PICK1.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000110881Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000023017Ensembl, 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. ^ 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. García-Añoveros J, Derfler B, Neville-Golden J, Hyman BT, Corey DP (March 1997). "BNaC1 and BNaC2 constitute a new family of human neuronal sodium channels related to degenerins and epithelial sodium channels". Proc Natl Acad Sci U S A. 94 (4): 1459–64. Bibcode:1997PNAS...94.1459G. doi:10.1073/pnas.94.4.1459. PMC 19813. PMID 9037075.
  7. 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.
  8. Bassilana F, Champigny G, Waldmann R, de Weille JR, Heurteaux C, Lazdunski M (Nov 1997). "The acid-sensitive ionic channel subunit ASIC and the mammalian degenerin MDEG form a heteromultimeric H+-gated Na+ channel with novel properties". The Journal of Biological Chemistry. 272 (46): 28819–22. doi:10.1074/jbc.272.46.28819. PMID 9360943.
  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. Leonard AS, Yermolaieva O, Hruska-Hageman A, Askwith CC, Price MP, Wemmie JA, Welsh MJ (February 2003). "cAMP-dependent protein kinase phosphorylation of the acid-sensing ion channel-1 regulates its binding to the protein interacting with C-kinase-1". Proc. Natl. Acad. Sci. U.S.A. 100 (4): 2029–34. Bibcode:2003PNAS..100.2029L. doi:10.1073/pnas.252782799. PMC 149953. PMID 12578970.
  11. Hruska-Hageman AM, Wemmie JA, Price MP, Welsh MJ (February 2002). "Interaction of the synaptic protein PICK1 (protein interacting with C kinase 1) with the non-voltage gated sodium channels BNC1 (brain Na+ channel 1) and ASIC (acid-sensing ion channel)". Biochem. J. 361 (Pt 3): 443–50. doi:10.1042/0264-6021:3610443. PMC 1222326. PMID 11802773.

Further reading

External links

Membrane transport protein: ion channels (TC 1A)
Ca: Calcium channel
Ligand-gated
Voltage-gated
Na: Sodium channel
Constitutively active
Proton-gated
Voltage-gated
K: Potassium channel
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl: Chloride channel
H: Proton channel
M: CNG cation channel
M: TRP cation channel
H2O (+ solutes): Porin
Cytoplasm: Gap junction
By gating mechanism
Ion channel class
see also disorders


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