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. Alternat... See more...

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
  • BNaC2 2 3 4
  • Acid Sensing (Proton Gated) Ion Channel 1 2 3
  • Acid-Sensing Ion Channel 1 3 4
  • Brain Sodium Channel 2 3 4
  • ACCN2 3 4
  • Cation Channel, Amiloride-Sensitive, Neuronal, 2 3
  • Acid-Sensing (Proton-Gated) Ion Channel 1 2
  • Acid-Sensing Ion Channel 1a Protein 3
  • HBNaC2 2
  • ASIC1 5
  • BNAC2 4
  • 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. Diseases associated with ASIC1 include Brain Injury and Frozen Shoulder. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include cation channel activity and ligand-gated sodium channel activity. An important paralog of this gene is ASIC2.

UniProtKB/Swiss-Prot Summary 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

  • Acid-sensing ion channels (ASIC) are members of the ENaC/Deg (epithelial amiloride-sensitive Na+ channel and degenerin) family of ion channels and are widely expressed in neurons of the central and peripheral nervous system.

Gene Wiki entry for ASIC1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASIC1 Gene

Genomics for ASIC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASIC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J050057 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.7 722 3.9 ZNF207 MYC ZNF600 ZNF580 ZNF223 ZSCAN16 ZIC2 ZBTB10 CTCF TRIM22 ASIC1 KMT2D LIMA1 SMARCD1 LMBR1L ATF1 BCDIN3D TROAP-AS1 CERS5 SPATS2
GH12J050060 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 250.7 -1.5 -1514 0.5 ZNF207 MYC ZNF654 ZNF10 ZBTB10 CTCF REST ZNF592 TRIM22 ZNF639 ASIC1 CERS5 RACGAP1
GH12J050058 Enhancer 1 ENCODE dbSUPER 250.7 -1.3 -1269 0 ZNF207 MYC ZNF654 ZBTB10 CTCF REST TRIM22 ZNF639 ZNF341 ZEB1 ASIC1 RACGAP1
GH12J049263 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13.6 -791.0 -791042 6.6 SP1 ZNF207 NCOR1 ZNF600 MYC IKZF1 JUND ZNF592 ZMYM3 CEBPA TUBA1C ENSG00000258101 DDX23 KMT2D CCNT1 KANSL2 BCDIN3D LMBR1L ENSG00000271547 SMARCD1
GH12J050024 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 12 -32.5 -32547 2.8 BCLAF1 SP1 IKZF1 MYC ZNF600 SIX5 ZNF580 ZNF592 ATF2 POLR2A RACGAP1 HSALNG0090997 BCDIN3D SMARCD1 LMBR1L KMT2D PRPF40B ASIC1 AQP6 AQP5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASIC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASIC1

Genomic Locations for ASIC1 Gene

Latest Assembly
chr12:50,057,548-50,083,622
(GRCh38/hg38)
Size:
26,075 bases
Orientation:
Plus strand

Previous Assembly
chr12:50,451,379-50,477,405
(GRCh37/hg19 by Entrez Gene)
Size:
26,027 bases
Orientation:
Plus strand

chr12:50,451,331-50,477,394
(GRCh37/hg19 by Ensembl)
Size:
26,064 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. Homotrimer of Asic1a (ASIC1 isoform 2) interacts with spider venom psalmotoxin-1 (PubMed:19654327, PubMed:22760635). Homotrimer of Asic1a (ASIC1 isoform 2) and Asic1b (ASIC1 isoform 3) interacts with the spider venom pi-theraphotoxin-Hm3a (PubMed:28327374). Homotrimer of Asic1a (ASIC1 isoform 2) interacts with the snake venom mambalgin-1 (PubMed:23034652). Heterotrimer of Asic1a-Asic2a (ASIC1 isoform 2-ASIC2 isoform 1) interacts with the snake venom mambalgin-1 (PubMed:23034652).
    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.

    Three dimensional structures from OCA and Proteopedia for ASIC1 Gene

    Alternative splice isoforms for ASIC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASIC1 Gene

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 Asn368 and Asn395
  • Modification sites at PhosphoSitePlus

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

InterPro:
Blocks:
  • Na+ channel, amiloride-sensitive

Suggested Antigen Peptide Sequences for ASIC1 Gene

GenScript: Design optimal peptide antigens:
  • Brain sodium channel 2 (ACCN2_HUMAN)

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 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.
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.

Phenotypes From GWAS Catalog for ASIC1 Gene

Gene Ontology (GO) - Molecular Function for ASIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005261 cation channel activity IEA --
GO:0005272 sodium channel activity IEA --
GO:0005515 protein binding IPI 11802773
GO:0015077 monovalent inorganic cation transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with ASIC1: view
genes like me logo Genes that share phenotypes with ASIC1: view

Animal Models for ASIC1 Gene

MGI Knock Outs for ASIC1:

Animal Models for research

  • Taconic Biosciences Mouse Models for ASIC1

miRNA for ASIC1 Gene

miRTarBase miRNAs that target ASIC1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASIC1

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASIC1 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 4
extracellular 3
mitochondrion 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,ISS --
GO:0009986 cell surface IEA --
GO:0016020 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

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for ASIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001662 behavioral fear response IEA --
GO:0001975 response to amphetamine IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006814 sodium ion transport IEA,NAS 9037075
genes like me logo Genes that share ontologies with ASIC1: view

Drugs & Compounds for ASIC1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Channel blocker, Target, inhibitor, blocker 61
Ibuprofen Approved Pharma Channel blocker, inhibitor 758
Flurbiprofen Approved, Investigational Pharma Channel blocker 78
Diclofenac Approved, Vet_approved Pharma Transporter, inhibitor 414
Salicylic acid Approved, Investigational, Vet_approved Pharma 340

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
7440-23-5
A317567
Channel blocker
H<sup>+</sup> (extracellular)
Activator
4'-Hydroxydiclofenac
  • (O-(2,6-Dichloro-4-hydroxyanilino)phenyl)acetic acid
  • 4'-Hydroxy diclofenac
  • 4'-OH DCF
  • (O-(2,6-Dichloro-4-hydroxyanilino)phenyl)acetate
  • {2-[(2,6-dichloro-4-hydroxyphenyl)amino]phenyl}acetic acid
64118-84-9

(3) ApexBio Compounds for ASIC1 Gene

Compound Action Cas Number
APETx2 713544-47-9
Psalmotoxin 1 acid-sensing ion channel 1a (ASIC1a) blocker
β-Pompilidotoxin Slows Na+ channel inactivation 216064-36-7
genes like me logo Genes that share compounds with ASIC1: view

Drug products for research

Transcripts for ASIC1 Gene

mRNA/cDNA for ASIC1 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASIC1

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

Expression for ASIC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for ASIC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASIC1

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.

Evidence on tissue expression from TISSUES for ASIC1 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with ASIC1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ASIC1 Gene

Orthologs for ASIC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASIC1 Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia ASIC1 30
  • 100 (a)
OneToOne
ACCN2 29
  • 94.61 (n)
Chimpanzee
(Pan troglodytes)
Mammalia ASIC1 30
  • 100 (a)
OneToOne
ACCN2 29
  • 99.59 (n)
Dog
(Canis familiaris)
Mammalia ASIC1 29 30
  • 94.42 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Asic1 29
  • 92.02 (n)
Mouse
(Mus musculus)
Mammalia Asic1 29 16 30
  • 91.7 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 55 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves ASIC1 30
  • 89 (a)
OneToOne
ACCN2 29
  • 83.97 (n)
Lizard
(Anolis carolinensis)
Reptilia ASIC1 30
  • 26 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia asic1 29
  • 73.59 (n)
Str.12273 29
Zebrafish
(Danio rerio)
Actinopterygii asic1a 29 30
  • 70.26 (n)
OneToMany
ASIC1 (2 of 2) 30
  • 59 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea del-10 29
  • 36.95 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 37 (a)
ManyToMany
-- 30
  • 35 (a)
ManyToMany
Species where no ortholog for ASIC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ASIC1: view image
Alliance of Genome Resources:
Additional Orthologs for ASIC1

Paralogs for ASIC1 Gene

Paralogs for ASIC1 Gene

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

  • ASIC1_HUMAN
  • F8VSK4_HUMAN
  • H0YHD6_HUMAN
  • H7C1W9_HUMAN
genes like me logo Genes that share paralogs with ASIC1: view

Variants for ASIC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASIC1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
982934 Uncertain Significance: Seizures 50,059,757(+) A/G
NM_001095.4(ASIC1):c.363-2A>G
SPLICE_ACCEPTOR
rs115122265 Benign: not provided 50,080,626(+) A/G
NM_001095.4(ASIC1):c.1297+37A>G
MISSENSE_VARIANT,INTRON
rs140908785 Benign: not provided 50,059,957(+) G/A
NM_001095.4(ASIC1):c.558+3G>A
INTRON
rs61731226 Benign: not provided 50,077,326(+) C/T
NM_001095.4(ASIC1):c.672C>T (p.Ile224=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs74090033 Benign: not provided 50,058,844(+) A/G
NM_001095.4(ASIC1):c.78A>G (p.Thr26=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASIC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ASIC1 Gene

Variant ID Type Subtype PubMed ID
nsv437753 CNV loss 16327808
nsv558837 CNV loss 21841781
nsv558840 CNV loss 21841781
nsv952179 CNV deletion 24416366

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)

Additional Variant Information for ASIC1 Gene

Human Gene Mutation Database (HGMD)
ASIC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASIC1
Leiden Open Variation Database (LOVD)
ASIC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASIC1 Gene

Disorders for ASIC1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ASIC1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
brain injury
frozen shoulder
  • adhesions-capsulitis,shoulder
pseudohypoaldosteronism, type i, autosomal recessive
  • pha1b
ischemia
  • acute coronary syndrome
panic disorder
  • panic anxiety syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ASIC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASIC1

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

No data available for 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) García-Añoveros J … Corey DP (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 22
  2. Identification of protein domains that control proton and calcium sensitivity of ASIC1a. (PMID: 19654327) Sherwood T … Askwith C (The Journal of biological chemistry 2009) 3 4 22
  3. cAMP-dependent protein kinase phosphorylation of the acid-sensing ion channel-1 regulates its binding to the protein interacting with C-kinase-1. (PMID: 12578970) Leonard AS … Welsh MJ (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 22
  4. Protein kinase C isoform antagonism controls BNaC2 (ASIC1) function. (PMID: 12244121) Berdiev BK … Benos DJ (The Journal of biological chemistry 2002) 3 4 22
  5. Neuropeptide FF and FMRFamide potentiate acid-evoked currents from sensory neurons and proton-gated DEG/ENaC channels. (PMID: 10798398) Askwith CC … Welsh MJ (Neuron 2000) 3 4 22

Products for ASIC1 Gene

Sources for ASIC1 Gene