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ASIC1 Gene(Protein Coding)

Acid Sensing Ion Channel Subunit 1

GCID:
GC12P050057
GIFtS:
61
Genes Participants
UDN Logo

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
  • Brain Sodium Channel 2 3 4
  • ACCN2 3 4
  • BNaC2 3 4
  • Cation Channel, Amiloride-Sensitive, Neuronal, 2 3
  • Acid-Sensing (Proton-Gated) Ion Channel 1 2
  • 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. Diseases associated with ASIC1 include Brain Injury and Frozen Shoulder. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. 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 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 , fRNAdb sequence ontologies and piRNA Summary for ASIC1 Gene

Genomics for ASIC1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for ASIC1 Gene

Enhancers for ASIC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G049055 1.8 FANTOM5 ENCODE dbSUPER 12.6 -999.0 -999046 6.7 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 DDX23 LOC390314 CCNT1 KANSL2 SENP1 PRPF40B DDN LOC100422296 LOC101927267 CCDC184
GH12G049823 1.7 FANTOM5 ENCODE dbSUPER 12.7 -231.0 -231030 6.3 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 FAIM2 ASIC1 DDX23 BCDIN3D-AS1 CERS5 TUBA1A ENSG00000272368 RPL35AP28 NCKAP5L NMTRQ-TTG6-1
GH12G050070 1.2 Ensembl ENCODE 13 +13.2 13218 0.7 HDGF WRNIP1 YBX1 ZNF48 ZNF121 ZNF207 ZNF143 DEK ZNF263 REST CERS5 ENSG00000272368 ASIC1 FAIM2 BCDIN3D-AS1 PRPF40B TUBA1A ENSG00000257298 GC12P050064 SMARCD1
GH12G050024 1.1 ENCODE 11.9 -32.4 -32354 2.1 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ASIC1 AQP6 AQP5 RACGAP1 AQP2 PRPF40B LIMA1 PIR47189
GH12G050015 1.1 Ensembl ENCODE 11.9 -39.7 -39724 3.7 HDAC1 PKNOX1 RAD21 ZNF121 ZNF426 ZNF518A ZNF781 MAFF PRDM6 SMARCA4 LIMA1 ASIC1 BCDIN3D-AS1 AQP6 AQP5 RACGAP1 AQP2 ENSG00000272368 COX14 LARP4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASIC1 on UCSC Golden Path with GeneCards custom track

Promoters for ASIC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000051714 252 801 ZNF133 ARID4B SIN3A GLI4 ZNF2 GLIS2 ZNF416 ZNF548 ZNF263 YY2

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 Structure • Gene Density

RefSeq DNA sequence for ASIC1 Gene

Proteins for ASIC1 Gene

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  • 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

Protein Expression for ASIC1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 posLast=368368 and posLast=395395
  • Modification sites at PhosphoSitePlus

Other Protein References for ASIC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASIC1 Gene

Domains & Families for ASIC1 Gene

Gene Families for ASIC1 Gene

HGNC:
IUPHAR :

Protein Domains for ASIC1 Gene

InterPro:
Blocks:
ProtoNet:

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

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  2. CRISPR
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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.

Gene Ontology (GO) - Molecular Function for ASIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005261 cation channel activity IEA --
GO:0005272 sodium channel activity IEA --
GO:0005515 protein binding IPI 11802773
GO:0015280 ligand-gated sodium channel activity TAS 9062189
GO:0022839 ion gated channel 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 Model Products

  • Taconic Biosciences Mouse Models for ASIC1

CRISPR Products

miRNA for ASIC1 Gene

miRTarBase miRNAs that target ASIC1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ASIC1

Flow Cytometry Products

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 5
extracellular 3
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

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 ISS,TAS --
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

1 KEGG pathway 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 IEA,TAS 9037075
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006814 sodium ion transport IEA,NAS 9037075
GO:0006816 calcium ion transport IEA --
genes like me logo Genes that share ontologies with ASIC1: view

Drugs & Compounds for ASIC1 Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Channel blocker, blocker, Target, inhibitor 53
Ibuprofen Approved Pharma Channel blocker, inhibitor 518
Nafamostat Approved, Investigational Pharma Channel blocker 4
Flurbiprofen Approved, Investigational Pharma Channel blocker 49
Diclofenac Approved, Vet_approved Pharma Channel blocker, Target, inhibitor 323

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
 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
  • {2-[(2,6-dichloro-4-hydroxyphenyl)amino]phenyl}acetic acid
 64118-84-9
Mambalgin 1
1609937-15-6

(5) Tocris Compounds for ASIC1 Gene

Compound Action Cas Number
APETx2 ASIC3 channel blocker 713544-47-9
GMQ hydrochloride Selective ASIC3 opener 5361-15-9
Mambalgin 1 Selective ASIC1a inhibitor; analgesic 1609937-15-6
Neuropeptide SF (mouse, rat) NPFF1 and NPFF2 agonist 230960-31-3
Psalmotoxin 1 Potent and selective ASIC1a channel blocker

(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

Transcripts for ASIC1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
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mRNA/cDNA for ASIC1 Gene

(6) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(80) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASIC1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ASIC1

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASIC1 Gene

mRNA expression in normal human tissues for ASIC1 Gene
mRNA expression by BioGPS for ASIC1 GenemRNA expression by GTEx 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

NURSA nuclear receptor signaling pathways regulating expression of ASIC1 Gene:

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

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 35
  • 100 (a)
 OneToOne
ACCN2 34
  • 94.61 (n)
chimpanzee
(Pan troglodytes)
 Mammalia ASIC1 35
  • 100 (a)
 OneToOne
ACCN2 34
  • 99.59 (n)
dog
(Canis familiaris)
 Mammalia ASIC1 34 35
  • 94.42 (n)
rat
(Rattus norvegicus)
 Mammalia Asic1 34
  • 92.02 (n)
mouse
(Mus musculus)
 Mammalia Asic1 34 16 35
  • 91.7 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 35
  • 55 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves ASIC1 35
  • 89 (a)
 OneToOne
ACCN2 34
  • 83.97 (n)
lizard
(Anolis carolinensis)
 Reptilia ASIC1 35
  • 26 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia asic1 34
  • 73.59 (n)
Str.12273 34
zebrafish
(Danio rerio)
 Actinopterygii asic1a 35 34
  • 70.26 (n)
 OneToMany
ASIC1 (2 of 2) 35
  • 59 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea del-10 34
  • 36.95 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 37 (a)
 ManyToMany
-- 35
  • 35 (a)
 ManyToMany
Species where no ortholog for ASIC1 was found in the sources mined by GeneCards:
  • 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
rs1000134173 -- 50,072,337(+) CCCCT(C/G)CTCCC intron-variant, upstream-variant-2KB
rs1000152524 -- 50,081,246(+) TGCCC(C/T)GTCCC intron-variant
rs1000212152 -- 50,065,258(+) CGTCC(A/C)AGTCA intron-variant
rs1000268822 -- 50,072,092(+) GCTAG(A/C)ACCTG intron-variant, upstream-variant-2KB
rs1000404668 -- 50,056,277(+) CCAGT(C/T)CCCTA upstream-variant-2KB

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)

Relevant External Links for ASIC1 Gene

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

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

Disorders for ASIC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ASIC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
brain injury
frozen shoulder
  • adhesions-capsulitis,shoulder
- elite association - COSMIC cancer census association via MalaCards
Search ASIC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ASIC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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) Garcia-Anoveros J. … Corey D.P. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 22 64
  2. 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 A.S. … Welsh M.J. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 22 64
  3. Protein kinase C isoform antagonism controls BNaC2 (ASIC1) function. (PMID: 12244121) Berdiev B.K. … Benos D.J. (J. Biol. Chem. 2002) 3 4 22 64
  4. Neuropeptide FF and FMRFamide potentiate acid-evoked currents from sensory neurons and proton-gated DEG/ENaC channels. (PMID: 10798398) Askwith C.C. … Welsh M.J. (Neuron 2000) 3 4 22 64
  5. Structure of the acid-sensing ion channel 1 in complex with the gating modifier Psalmotoxin 1. (PMID: 22760635) Dawson R.J. … Ruf A. (Nat. Commun. 2012) 3 4 64

Products for ASIC1 Gene

  • Addgene plasmids for ASIC1

Sources for ASIC1 Gene

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