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Aliases for ASIC1 Gene

Aliases for ASIC1 Gene

  • Acid Sensing Ion Channel Subunit 1 2 3 5
  • Amiloride-Sensitive Cation Channel 2, Neuronal 2 3 4
  • Acid-Sensing (Proton-Gated) Ion Channel 1 2 3
  • Acid Sensing (Proton Gated) Ion Channel 1 2 3
  • Brain Sodium Channel 2 3 4
  • ACCN2 3 4
  • BNaC2 3 4
  • Cation Channel, Amiloride-Sensitive, Neuronal, 2 3
  • Acid-Sensing Ion Channel 1a Protein 3
  • Acid Sensing Ion Channel 1 3
  • ASIC 3

External Ids for ASIC1 Gene

Previous HGNC Symbols for ASIC1 Gene

  • ACCN2

Previous GeneCards Identifiers for ASIC1 Gene

  • GC12P050452

Summaries for ASIC1 Gene

Entrez Gene Summary for ASIC1 Gene

  • This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]

GeneCards Summary for ASIC1 Gene

ASIC1 (Acid Sensing Ion Channel Subunit 1) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Development Endothelin-1/EDNRA signaling. GO annotations related to this gene include cation channel activity and ligand-gated sodium channel activity. An important paralog of this gene is SCNN1G.

UniProtKB/Swiss-Prot for ASIC1 Gene

  • Isoform 2 and isoform 3 function as proton-gated sodium channels; they are activated by a drop of the extracellular pH and then become rapidly desensitized. The channel generates a biphasic current with a fast inactivating and a slow sustained phase. Has high selectivity for sodium ions and can also transport lithium ions with high efficiency. Isoform 2 can also transport potassium, but with lower efficiency. It is nearly impermeable to the larger rubidium and cesium ions. Isoform 3 can also transport calcium ions. Mediates glutamate-independent Ca(2+) entry into neurons upon acidosis. This Ca(2+) overloading is toxic for cortical neurons and may be in part responsible for ischemic brain injury. Heteromeric channel assembly seems to modulate channel properties. Functions as a postsynaptic proton receptor that influences intracellular Ca(2+) concentration and calmodulin-dependent protein kinase II phosphorylation and thereby the density of dendritic spines. Modulates activity in the circuits underlying innate fear.

  • Isoform 1 does not display proton-gated cation channel activity.

Tocris Summary for ASIC1 Gene

Gene Wiki entry for ASIC1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASIC1 Gene

Genomics for ASIC1 Gene

Regulatory Elements for ASIC1 Gene

Promoters for ASIC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ASIC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASIC1 Gene

Chromosome:
12
Start:
50,057,548 bp from pter
End:
50,083,622 bp from pter
Size:
26,075 bases
Orientation:
Plus strand

Genomic View for ASIC1 Gene

Genes around ASIC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASIC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASIC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASIC1 Gene

Proteins for ASIC1 Gene

  • Protein details for ASIC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78348-ASIC1_HUMAN
    Recommended name:
    Acid-sensing ion channel 1
    Protein Accession:
    P78348
    Secondary Accessions:
    • A3KN86
    • E5KBL7
    • P78349
    • Q96CV2

    Protein attributes for ASIC1 Gene

    Size:
    528 amino acids
    Molecular mass:
    59909 Da
    Quaternary structure:
    • Homotrimer or heterotrimer with other ASIC proteins (By similarity). Interacts with STOM and ASIC2 (By similarity). Interacts with PRKCABP. Interacts with spider venom psalmotoxin 1.
    Miscellaneous:
    • Potentiated by Ca(2+), Mg(2+), Ba(2+) and multivalent cations. Inhibited by anti-inflammatory drugs like salicylic acid (By similarity). Potentiated by FMRFamide-related neuropeptides. PH dependence may be regulated by serine proteases.

    Alternative splice isoforms for ASIC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASIC1 Gene

Proteomics data for ASIC1 Gene at MOPED

Post-translational modifications for ASIC1 Gene

  • Phosphorylation by PKA regulates interaction with PRKCABP and subcellular location. Phosphorylation by PKC may regulate the channel.
  • Glycosylation at Asn 368 and Asn 395
  • Modification sites at PhosphoSitePlus

Other Protein References for ASIC1 Gene

Antibody Products

No data available for DME Specific Peptides for ASIC1 Gene

Domains & Families for ASIC1 Gene

Gene Families for ASIC1 Gene

Protein Domains for ASIC1 Gene

Suggested Antigen Peptide Sequences for ASIC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78348

UniProtKB/Swiss-Prot:

ASIC1_HUMAN :
  • Channel opening involves a conformation change that affects primarily the extracellular domain and the second transmembrane helix and its orientation in the membrane. In the open state, the second transmembrane helix is nearly perpendicular to the plane of the membrane; in the desensitized state it is strongly tilted. Besides, the second transmembrane domain is discontinuously helical in the open state. The GAS motif of the selectivity filter is in an extended conformation, giving rise to a distinct kink in the polypeptide chain. A domain swap between subunits gives rise to a full-length transmembrane helix (By similarity).
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC1 subfamily.
Domain:
  • Channel opening involves a conformation change that affects primarily the extracellular domain and the second transmembrane helix and its orientation in the membrane. In the open state, the second transmembrane helix is nearly perpendicular to the plane of the membrane; in the desensitized state it is strongly tilted. Besides, the second transmembrane domain is discontinuously helical in the open state. The GAS motif of the selectivity filter is in an extended conformation, giving rise to a distinct kink in the polypeptide chain. A domain swap between subunits gives rise to a full-length transmembrane helix (By similarity).
Family:
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC1 subfamily.
genes like me logo Genes that share domains with ASIC1: view

Function for ASIC1 Gene

Molecular function for ASIC1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by the diuretic amiloride. Inhibited by Cs(1+) ions. Inhibited by spider venom psalmotoxin 1; this locks the channel into its desensitized conformation.
UniProtKB/Swiss-Prot Function:
Isoform 2 and isoform 3 function as proton-gated sodium channels; they are activated by a drop of the extracellular pH and then become rapidly desensitized. The channel generates a biphasic current with a fast inactivating and a slow sustained phase. Has high selectivity for sodium ions and can also transport lithium ions with high efficiency. Isoform 2 can also transport potassium, but with lower efficiency. It is nearly impermeable to the larger rubidium and cesium ions. Isoform 3 can also transport calcium ions. Mediates glutamate-independent Ca(2+) entry into neurons upon acidosis. This Ca(2+) overloading is toxic for cortical neurons and may be in part responsible for ischemic brain injury. Heteromeric channel assembly seems to modulate channel properties. Functions as a postsynaptic proton receptor that influences intracellular Ca(2+) concentration and calmodulin-dependent protein kinase II phosphorylation and thereby the density of dendritic spines. Modulates activity in the circuits underlying innate fear.
UniProtKB/Swiss-Prot Function:
Isoform 1 does not display proton-gated cation channel activity.
genes like me logo Genes that share phenotypes with ASIC1: view

Animal Models for ASIC1 Gene

MGI Knock Outs for ASIC1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ASIC1

CRISPR Products

miRNA for ASIC1 Gene

miRTarBase miRNAs that target ASIC1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASIC1 Gene

Localization for ASIC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASIC1 Gene

Cell membrane; Multi-pass membrane protein. Note=Localizes in synaptosomes at dendritic synapses of neurons. Colocalizes with DLG4 (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASIC1 Gene COMPARTMENTS Subcellular localization image for ASIC1 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ASIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ASIC1: view

Pathways & Interactions for ASIC1 Gene

genes like me logo Genes that share pathways with ASIC1: view

Pathways by source for ASIC1 Gene

SIGNOR curated interactions for ASIC1 Gene

Other effect:

Gene Ontology (GO) - Biological Process for ASIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9037075
GO:0007165 signal transduction TAS 9037075
GO:0008306 associative learning IEA --
GO:0010447 response to acidic pH IEA --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with ASIC1: view

Drugs & Compounds for ASIC1 Gene

(17) Drugs for ASIC1 Gene - From: IUPHAR, DGIdb, Tocris, ApexBio, HMDB, Novoseek, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Channel blocker, blocker, Target, inhibitor 45
Ibuprofen Approved Pharma Channel blocker, inhibitor 456
Flurbiprofen Approved, Investigational Pharma Channel blocker 40
Diclofenac Approved Pharma Channel blocker, Target, inhibitor 273
salicylic acid Approved Pharma Channel blocker 147

(13) Additional Compounds for ASIC1 Gene - From: Novoseek, IUPHAR, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
A317567
Channel blocker
EIPA
Positive, Allosteric regulator
H<sup>+</sup> (extracellular)
Activator
4'-Hydroxydiclofenac
  • (O-(2,6-Dichloro-4-hydroxyanilino)phenyl)acetic acid
  • 4'-Hydroxy diclofenac
  • 4'-OH DCF
  • {2-[(2,6-dichloro-4-hydroxyphenyl)amino]phenyl}acetic acid
64118-84-9
genes like me logo Genes that share compounds with ASIC1: view

Transcripts for ASIC1 Gene

Unigene Clusters for ASIC1 Gene

Acid-sensing (proton-gated) ion channel 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASIC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - -
SP2: -
SP3:
SP4:

Relevant External Links for ASIC1 Gene

GeneLoc Exon Structure for
ASIC1
ECgene alternative splicing isoforms for
ASIC1

Expression for ASIC1 Gene

mRNA expression in normal human tissues for ASIC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASIC1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x5.0) and Brain - Cerebellum (x4.7).

Protein differential expression in normal tissues from HIPED for ASIC1 Gene

This gene is overexpressed in Frontal cortex (59.4) and Retina (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASIC1 Gene



SOURCE GeneReport for Unigene cluster for ASIC1 Gene Hs.274361

mRNA Expression by UniProt/SwissProt for ASIC1 Gene

P78348-ASIC1_HUMAN
Tissue specificity: Expressed in most or all neurons.
genes like me logo Genes that share expression patterns with ASIC1: view

Protein tissue co-expression partners for ASIC1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for ASIC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASIC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASIC1 36
  • 100 (a)
OneToOne
ACCN2 35
  • 99.59 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia ACCN2 35
  • 94.61 (n)
  • 99.81 (a)
ASIC1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASIC1 36
  • 73 (a)
OneToOne
ASIC1 35
  • 94.42 (n)
  • 99.24 (a)
mouse
(Mus musculus)
Mammalia Asic1 16
Asic1 36
  • 98 (a)
OneToOne
Asic1 35
  • 91.7 (n)
  • 98.29 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 55 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Asic1 35
  • 92.02 (n)
  • 98.48 (a)
chicken
(Gallus gallus)
Aves ACCN2 35
  • 83.97 (n)
  • 89.54 (a)
ASIC1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASIC1 36
  • 26 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asic1 35
  • 73.59 (n)
  • 81.52 (a)
Str.12273 35
zebrafish
(Danio rerio)
Actinopterygii asic1a 35
  • 70.26 (n)
  • 69.04 (a)
ASIC1 (2 of 2) 36
  • 59 (a)
OneToMany
asic1a 36
  • 68 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea del-10 35
  • 36.95 (n)
  • 23.43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
ManyToMany
-- 36
  • 37 (a)
ManyToMany
Species with no ortholog for ASIC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ASIC1 Gene

ENSEMBL:
Gene Tree for ASIC1 (if available)
TreeFam:
Gene Tree for ASIC1 (if available)

Paralogs for ASIC1 Gene

Paralogs for ASIC1 Gene

(4) SIMAP similar genes for ASIC1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ASIC1: view

Variants for ASIC1 Gene

Sequence variations from dbSNP and Humsavar for ASIC1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs393848 -- 50,072,302(-) ATTAA(C/T)GCTTT intron-variant, upstream-variant-2KB
rs404751 -- 50,079,877(-) AGGTC(C/T)CAGTT intron-variant
rs706794 -- 50,082,375(-) CAGCC(A/C/T)GGTCT nc-transcript-variant, utr-variant-3-prime
rs578470 -- 50,069,542(+) gccca(C/T)ttcag intron-variant
rs835591 -- 50,057,959(-) GGGTA(C/G)CGAGG intron-variant

Variation tolerance for ASIC1 Gene

Residual Variation Intolerance Score: 6.35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASIC1 Gene

HapMap Linkage Disequilibrium report
ASIC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ASIC1 Gene

Disorders for ASIC1 Gene

Relevant External Links for ASIC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASIC1

No disorders were found for ASIC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASIC1 Gene

Publications for ASIC1 Gene

  1. BNaC1 and BNaC2 constitute a new family of human neuronal sodium channels related to degenerins and epithelial sodium channels. (PMID: 9037075) Garcia-Anoveros J. … Corey D.P. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 23 67
  2. Ca2+ -permeable acid-sensing ion channels and ischemic brain injury. (PMID: 16685601) Xiong Z.G. … Simon R.P. (J. Membr. Biol. 2006) 23 25 26
  3. Acid-sensing properties in rat gastric sensory neurons from normal and ulcerated stomach. (PMID: 15758172) Sugiura T. … Gebhart G.F. (J. Neurosci. 2005) 23 25 26
  4. Acid-induced pain and its modulation in humans. (PMID: 15574747) Jones N.G. … McMahon S.B. (J. Neurosci. 2004) 3 25 26
  5. Nonsteroid anti-inflammatory drugs inhibit both the activity and the inflammation-induced expression of acid-sensing ion channels in nociceptors. (PMID: 11588175) Voilley N. … Lazdunski M. (J. Neurosci. 2001) 23 25 26

Products for ASIC1 Gene

Sources for ASIC1 Gene

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