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ASIC1 Gene

protein-coding   GIFtS: 53
GCID: GC12P050452

Acid-Sensing (Proton-Gated) Ion Channel 1

(Previous names: amiloride-sensitive cation channel 2, neuronal)
(Previous symbol: ACCN2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Acid-Sensing (Proton-Gated) Ion Channel 11 2     ASIC2
ACCN21 2 3 5     Acid-Sensing Ion Channel 12
Amiloride-Sensitive Cation Channel 2, Neuronal1 2 3     Acid-Sensing Ion Channel 1a Protein2
Brain Sodium Channel 22 3     Cation Channel, Amiloride-Sensitive, Neuronal, 22
BNaC22 3     BNAC23

External Ids:    HGNC: 1001   Entrez Gene: 412   Ensembl: ENSG000001108817   OMIM: 6028665   UniProtKB: P783483   

Export aliases for ASIC1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (proton-gated) ion channel 1) is a protein-coding gene. Diseases associated with ASIC1 include adenoid cystic carcinoma, and brain injury. GO annotations related to this gene include ligand-gated sodium channel activity. An important paralog of this gene is SCNN1B.

UniProtKB/Swiss-Prot: ASIC1_HUMAN, P78348
Function: Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by
the diuretic amiloride. Also permeable for Ca(2+), Li(+) and K(+). Generates a biphasic current with a fast
inactivating and a slow sustained phase. 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 (By
similarity)

Gene Wiki entry for ASIC1 (ACCN2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for ASIC1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASIC1 promoter sequence
   Search Chromatin IP Primers for ASIC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASIC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q12   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q12

ASIC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASIC1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P050452:  view genomic region     (about GC identifiers)

Start:
50,451,331 bp from pter      End:
50,477,394 bp from pter
Size:
26,064 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ASIC1_HUMAN, P78348 (See protein sequence)
Recommended Name: Acid-sensing ion channel 1  
Size: 528 amino acids; 59909 Da
Subunit: Homotrimer or heterotrimer with other ASIC proteins (By similarity). Interacts with STOM and ASIC2 (By
similarity). Interacts with PRKCABP
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
Secondary accessions: A3KN86 E5KBL7 P78349 Q96CV2
Alternative splicing: 3 isoforms:  P78348-2   P78348-1   P78348-3   

Explore the universe of human proteins at neXtProt for ASIC1: NX_P78348

Explore proteomics data for ASIC1 at MOPED

Post-translational modifications: 

  • Phosphorylation by PKA regulates interaction with PRKCABP and subcellular location. Phosphorylation by PKC may
    regulate the channel1
  • Glycosylation2 at Asn368, Asn395
  • Modification sites at PhosphoSitePlus

  • See ASIC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001086.2  NP_001243759.1  NP_064423.2  

    ENSEMBL proteins: 
     ENSP00000228468   ENSP00000400228   ENSP00000448263   ENSP00000402896   ENSP00000450247  
     ENSP00000446863  
    Reactome Protein details: P78348

    ASIC1 Human Recombinant Protein Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ASIC: Ion channels / Acid-sensing (proton-gated) ion channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: ASIC1
    Acid-sensing (proton-gated) ion channels (ASICs)

    3 InterPro protein domains:
     IPR004724 EnaC
     IPR020903 Na+channel_ASC_CS
     IPR001873 Na+channel_ASC

    Graphical View of Domain Structure for InterPro Entry P78348

    ProtoNet protein and cluster: P78348

    1 Blocks protein domain: IPB001873 Na+ channel

    UniProtKB/Swiss-Prot: ASIC1_HUMAN, P78348
    Similarity: Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC1 subfamily


    ASIC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ASIC1_HUMAN, P78348
    Function: Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by
    the diuretic amiloride. Also permeable for Ca(2+), Li(+) and K(+). Generates a biphasic current with a fast
    inactivating and a slow sustained phase. 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 (By
    similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005261cation channel activity ----
    GO:0005272sodium channel activity ----
    GO:0005515protein binding IPI11802773
    GO:0015280ligand-gated sodium channel activity TAS9062189
         
    ASIC1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ASIC1:
     Decreased Salmonella enterica  

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Asic1):
     behavior/neurological  nervous system 

    ASIC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Asic1tm1Wsh for ASIC1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ASIC1
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    miRNA
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    hsa-let-7b-5p (MIRT052268)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ASIC1_HUMAN, P78348: Cell membrane; Multi-pass membrane protein (By similarity). Note=Localizes in synaptosomes
    at dendritic synapses of neurons. Colocalizes with DLG4 (By similarity)

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane ISS--
    GO:0009986cell surface IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----

    ASIC1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ASIC1 About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    3Development Endothelin 1 EDNRA signaling
    Inflammatory mediator regulation of TRP channels0.37
    4Sodium channels and transporters inward current
    Sodium channels and transporters inward current
    5Potassium transporters inward current
    Potassium transporters inward current

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for ASIC1
        Stimuli-sensing channels


    1 Kegg Pathway  (Kegg details for ASIC1):
        Inflammatory mediator regulation of TRP channels


    ASIC1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ASIC1
    Interactions:

        Search GeneGlobe Interaction Network for ASIC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for ASIC1 (P783481, 3 ENSP000002284684) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PICK1Q9NRD51, 3, ENSP000003494654EBI-79189,EBI-79165 I2D: score=4 STRING: ENSP00000349465
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    ASIC2Q165153, ENSP000002258234I2D: score=1 STRING: ENSP00000225823
    STOML1Q9UBI43, ENSP000003193234I2D: score=1 STRING: ENSP00000319323
    STOMP271053, ENSP000002867134I2D: score=1 STRING: ENSP00000286713
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001101response to acid IEA--
    GO:0006810transport TAS9037075
    GO:0006812cation transport ----
    GO:0006814sodium ion transport NAS9037075
    GO:0007165signal transduction TAS9037075

    ASIC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ASIC1

    Selected IUPHAR Ligands for ASIC1 (ASIC1) (see all 13)    About this table
    LigandTypeActionAffinityPubmed IDs
    [125I]psalmotoxin 1
    NoneNone9.7--
    psalmotoxin 1
    Channel blockerNone9--
    Zn2+
    Channel blockerNone8.2--
    H+ (extracellular)
    ActivatorNone5.1 - 6.2--
    Pb2+
    Channel blockerNone5.8--
    A317567
    Channel blockerNone5.7--
    EIPA
    Channel blockerNone5--
    benzamil
    Channel blockerNone5--
    nafamostat
    Channel blockerNone4.9--
    amiloride
    Channel blockerNone4.64 - 4.68--

    10 Novoseek inferred chemical compound relationships for ASIC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amiloride 71.8 9 10842183 (1), 19482897 (1), 20181928 (1), 9545267 (1) (see all 6)
    fmrfamide 68.1 4 10798398 (1), 11587714 (1), 9545267 (1), 12668052 (1)
    npff 64.9 2 11587714 (1), 12668052 (1)
    sodium 51 6 17012229 (1), 9037075 (1), 19561078 (1), 16901942 (1) (see all 5)
    flurbiprofen 45.5 4 11588175 (1), 16407431 (1)
    hydrogen 27 12 19654327 (3), 17060608 (2), 10842183 (1), 16407431 (1) (see all 5)
    gdp 23.3 2 16562673 (1), 15952105 (1)
    calcium 14.2 11 19654327 (3), 16407431 (2), 15369669 (1), 18673137 (1)
    glutamate 12.1 6 16685601 (2), 15369669 (1), 17127388 (1)
    lactate 6.58 1 11528414 (1)



    ASIC1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ASIC1 gene (3 alternative transcripts): 
    NM_001095.3  NM_001256830.1  NM_020039.3  

    Unigene Cluster for ASIC1:

    Acid-sensing (proton-gated) ion channel 1
    Hs.274361  [show with all ESTs]
    Unigene Representative Sequence: NM_020039
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000228468(uc001rvv.3) ENST00000447966(uc001rvw.3 uc009zlo.3)
    ENST00000550558(uc009zln.3) ENST00000453327 ENST00000551199 ENST00000552438(uc021qxr.1)
    ENST00000549792 ENST00000548350 ENST00000552633
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    Additional mRNA sequence: 

    AK290010.1 AK293960.1 BC013891.2 BC028722.1 BC133707.1 EU078959.1 HM991481.1 NR_046389.1 
    U78180.1 U78181.1 

    4 DOTS entries:

    DT.95370218  DT.100746318  DT.99990143  DT.99938511 

    Selected AceView cDNA sequences (see all 80):

    Z40887 BM697220 NM_001095 AA442173 BG152517 AA322505 BF514399 T06197 
    AI700050 BX115078 AI336677 AI017398 BC013891 NM_020039 AI553866 BM726148 
    BF527643 BG819385 AI692273 Z45162 AA442069 BF527530 AI277385 U78180 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ASIC1    About this scheme

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


    ECgene alternative splicing isoforms for ASIC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ASIC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCTGGTCT
    ASIC1 Expression
    About this image


    ASIC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
    ASIC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASIC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.274361

    UniProtKB/Swiss-Prot: ASIC1_HUMAN, P78348
    Tissue specificity: Expressed in most or all neurons

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ASIC1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Asic11 , 5 amiloride-sensitive cation channel 2, neuronal5
    acid-sensing (proton-gated) ion channel 11
    91.7(n)1
    98.29(a)1
      15 (56.13 cM)5
    114191  NM_009597.11  NP_033727.11 
     996707185 
    chicken
    (Gallus gallus)
    Aves ACCN21 amiloride-sensitive cation channel 2, neuronal 83.97(n)
    89.54(a)
      426883  NM_001040467.1  NP_001035557.1 
    lizard
    (Anolis carolinensis)
    Reptilia ASIC16
    acid-sensing (proton-gated) ion channel 1
    26(a)
    1 ↔ 1
    GL344013.1(101234-109988)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.122732 Transcribed sequence with weak similarity to protein more 78.24(n)    BX704580.1 
    zebrafish
    (Danio rerio)
    Actinopterygii asic1a1 acid-sensing (proton-gated) ion channel 1a 70.26(n)
    69.04(a)
      791696  NM_214790.2  NP_999955.1 
    worm
    (Caenorhabditis elegans)
    Secernentea del-101 del-10 36.95(n)
    23.43(a)
      174069  NM_062901.5  NP_495302.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ASIC1 gene
    SCNN1B2  ASIC32  SCNN1G2  SCNN1A2  ASIC42  SCNN1D2  ASIC22  ASIC52  
    4 SIMAP similar genes for ASIC1 using alignment to 4 protein entries:     ASIC1_HUMAN (see all proteins):
    ASIC2    ASIC3    ASIC4    ASIC5

    ASIC1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ASIC1 (see all 473)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1826204761,2
    --50282894(+) ATTATC/GTCTGC 3 -- us2k10--------
    rs732995181,2
    C,F--50282932(+) AGAGGT/CCAAGG 3 -- us2k16Minor allele frequency- C:0.17NA WA EA 364
    rs1457053001,2
    --50283065(+) CCTCCA/GCCTCA 3 -- us2k10--------
    rs1853941821,2
    --50283173(+) CCTGCC/GAGCCG 3 -- us2k10--------
    rs1382871701,2
    --50283197(+) AAATTA/GCAGAT 3 -- us2k10--------
    rs1427920641,2
    --50283299(+) CAGGTA/GATTTC 3 -- us2k10--------
    rs1460553321,2
    --50283306(+) TTTCCC/TACTCT 3 -- us2k10--------
    rs1494298221,2
    --50283325(+) CCCCAC/TGAGTT 3 -- us2k10--------
    rs5904601,2
    C,F,A,H--50283390(-) GCTGGG/AGGGTT 3 -- us2k124Minor allele frequency- A:0.31NS EA NA WA CSA 2528
    rs1910343861,2
    --50283525(+) CACTCC/TCCCAC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for ASIC1 (50451331 - 50477394 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ASIC1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ASIC1
    DNA2.0 Custom Variant and Variant Library Synthesis for ASIC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602866    OMIM disorders: --

    10 diseases for ASIC1:    
    About MalaCards
    adenoid cystic carcinoma    brain injury    temporal lobe epilepsy    adenoiditis
    neuronitis    purpura    malignant glioma    ischemia
    cystic fibrosis    cerebritis


    ASIC1 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for ASIC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acidosis 76.3 4 10842183 (1), 12578970 (1), 19906984 (1), 19120019 (1)
    ischemic brain injury 61.8 1 17261712 (1)
    ischemia 39.9 12 15369669 (1), 15932031 (1), 16685601 (1), 18334630 (1) (see all 8)
    glioma 29.7 7 19561078 (3), 12244121 (1), 12584187 (1), 17883949 (1)
    stroke 14.8 3 17446049 (1), 17204502 (1)
    inflammation 0 6 11588175 (1)
    tumors 0 1 12584187 (1)


    Export disorders for ASIC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ASIC1 gene, integrated from 10 sources (see all 111):
    (articles sorted by number of sources associating them with ASIC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BNaC1 and BNaC2 constitute a new family of human neuronal sodium channels related to degenerins and epithelial sodium channels. (PubMed id 9037075)1, 2, 3, 9 Garcia-Anoveros J....Corey D.P. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    2. Protein kinase C isoform antagonism controls BNaC2 (ASIC1) function. (PubMed id 12244121)1, 2, 9 Berdiev B.K.... Benos D.J. (J. Biol. Chem. 2002)
    3. cAMP-dependent protein kinase phosphorylation of the acid-sensing ion channel-1 regulates its binding to the protein interacting with C- kinase-1. (PubMed id 12578970)1, 2, 9 Leonard A.S.... Welsh M.J. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    4. Neuropeptide FF and FMRFamide potentiate acid-evoked currents from sensory neurons and proton-gated DEG/ENaC channels. (PubMed id 10798398)1, 2, 9 Askwith C.C.... Welsh M.J. (Neuron 2000)
    5. Identification of a calcium permeable human acid-sensing ion channel 1 transcript variant. (PubMed id 21036899)1, 2 Hoagland E.N.... Askwith C.C. (J. Biol. Chem. 2010)
    6. Selective regulation of acid-sensing ion channel 1 by serine proteases. (PubMed id 15247234)1, 2 Poirot O.... Kellenberger S. (J. Biol. Chem. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. 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). (PubMed id 11802773)1, 2 Hruska-Hageman A.M.... Welsh M.J. (Biochem. J. 2002)
    9. Lack of association between the amiloride-sensitive cation channel 2 (ACCN2) gene and anxiety spectrum disorders. (PubMed id 18349698)1, 9 Hettema J.M....Chen X. (Psychiatr. Genet. 2008)
    10. Identification of protein domains that control proton and calcium sensitivity of ASIC1a. (PubMed id 19654327)1, 9 Sherwood T....Askwith C. (J. Biol. Chem. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 41 HGNC: 100 AceView: ACCN2 Ensembl:ENSG00000110881 euGenes: HUgn41
    ECgene: ASIC1 Kegg: 41 H-InvDB: ASIC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ASIC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ASIC1 gene:
    Search GeneIP for patents involving ASIC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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