Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



AQR Gene

protein-coding   GIFtS: 56
GCID: GC15M035147

Aquarius Intron-Binding Spliceosomal Factor

(Previous name: aquarius homolog (mouse))
  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)
About This Section

TryGeneCards Plus

Aliases
Aquarius Intron-Binding Spliceosomal Factor1 2     Aquarius Homolog (Mouse)1
IBP1602 3 5     Aquarius Homolog2
Functional Spliceosome-Associated Protein 1641 2     fSAP1642
Intron-Binding Protein Of 160 KDa2 3     Intron-Binding Protein Aquarius2
KIAA05603 5     

External Ids:    HGNC: 295131   Entrez Gene: 97162   Ensembl: ENSG000000217767   OMIM: 6105485   UniProtKB: O603063   

Export aliases for AQR gene to outside databases

Previous GC identifers: GC15M030490 GC15M028043 GC15M032726 GC15M032863 GC15M032935 GC15M011994


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

GeneCards Summary for AQR Gene:
AQR (aquarius intron-binding spliceosomal factor) is a protein-coding gene. Diseases associated with AQR include louping ill, and tick-borne encephalitis. GO annotations related to this gene include pre-mRNA intronic binding. An important paralog of this gene is ZNFX1.

UniProtKB/Swiss-Prot: AQR_HUMAN, O60306
Function: Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar
ribonucleoprotein) biogenesis. Plays a key role in position-dependent assembly of intron-encoded box C/D small
snoRNP, splicing being required for snoRNP assembly. May act by helping the folding of the snoRNA sequence. Binds
to intron of pre-mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint
of introns (40 nucleotides upstream of the branchpoint) during the late stages of splicing




(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the AQR gene promoter:
         TBP   AREB6   AML1a   NCX/Ncx   TFIID   FOXD1   CUTL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAQR promoter sequence
   Search Chromatin IP Primers for AQR

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


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

Entrez Gene cytogenetic band: 15q14   Ensembl cytogenetic band:  15q14   HGNC cytogenetic band: 15q13

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M035147:  view genomic region     (about GC identifiers)

Start:
35,147,732 bp from pter      End:
35,262,040 bp from pter
Size:
114,309 bases      Orientation:
minus 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: AQR_HUMAN, O60306 (See protein sequence)
Recommended Name: Intron-binding protein aquarius  
Size: 1485 amino acids; 171295 Da
Subunit: Identified in the spliceosome C complex
Sequence caution: Sequence=BAA25486.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A0JP17 A5YKK3 Q2YDX9 Q6IRU8 Q6PIC8

Explore the universe of human proteins at neXtProt for AQR: NX_O60306

Explore proteomics data for AQR at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys604, Lys1111
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_055506.1  
    ENSEMBL proteins: 
     ENSP00000156471   ENSP00000445700   ENSP00000453278  

    AQR Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for AQR
    OriGene Protein Over-expression Lysate for AQR
    OriGene MassSpec for AQR
    OriGene Custom Protein Services for AQR
    GenScript Custom Purified and Recombinant Proteins Services for AQR
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AQR

    AQR Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for AQR
    Novus Biologicals AQR Antibody
    Abcam antibodies for AQR
    Cloud-Clone Corp. Antibodies for AQR
    ThermoFisher Antibody for AQR
    LSBio Antibodies in human, mouse, rat for AQR

    AQR Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for AQR
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AQR
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AQR
    Cloud-Clone Corp. CLIAs for AQR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    3 InterPro protein domains:
     IPR026300 CWF11_fam
     IPR027417 P-loop_NTPase
     IPR024860 Aquarius

    Graphical View of Domain Structure for InterPro Entry O60306

    ProtoNet protein and cluster: O60306

    UniProtKB/Swiss-Prot: AQR_HUMAN, O60306
    Similarity: Belongs to the CWF11 family


    AQR 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AQR_HUMAN, O60306
    Function: Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar
    ribonucleoprotein) biogenesis. Plays a key role in position-dependent assembly of intron-encoded box C/D small
    snoRNP, splicing being required for snoRNP assembly. May act by helping the folding of the snoRNA sequence. Binds
    to intron of pre-mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint
    of introns (40 nucleotides upstream of the branchpoint) during the late stages of splicing

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0044822poly(A) RNA binding IDA--
    GO:0097157pre-mRNA intronic binding IEA--
         
    AQR for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for AQR:
     Decreased influenza A virus in  Decreased viability  Decreased viability of wild-ty  Increased G2M DNA content 
     Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Aqr):
     normal 

    AQR for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AQR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AQR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AQR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AQR

    miRNA
    Products:
        
    miRTarBase miRNAs that target AQR:
    hsa-mir-4326 (MIRT052840)

    Block miRNA regulation of human, mouse, rat AQR using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate AQR:
    hsa-miR-1303 hsa-miR-7-1* hsa-miR-7-2*
    SwitchGear 3'UTR luciferase reporter plasmidAQR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AQR
    Predesigned siRNA for gene silencing in human, mouse, rat AQR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AQR

    Clone
    Products:
         
    OriGene clones in human, mouse for AQR (see all 6)
    OriGene ORF clones in mouse, rat for AQR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: AQR (NM_014691)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AQR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQR

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for AQR
    Browse ESI BIO Cell Lines and PureStem Progenitors for AQR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    AQR_HUMAN, O60306: Nucleus. Note=Localizes to speckle-like regions of the nucleoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005681spliceosomal complex ----
    GO:0071013catalytic step 2 spliceosome IDA11991638

    AQR 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for AQR About    
    See pathways by source

    SuperPathContained pathways About
    1Spliceosome
    Spliceosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for AQR):
        Spliceosome


    AQR for pathways           About GeneDecksing

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

        Search GeneGlobe Interaction Network for AQR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AQR (O603061, 2, 3 ENSP000001564714) via UniProtKB, MINT, STRING, and/or I2D (see all 612)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNF830Q96NB31, 2, ENSP000003545184EBI-2512328,EBI-3920997 MINT-8337266 MINT-8332042 STRING: ENSP00000354518
    RBM4Q9BWF32, ENSP000003091664MINT-8337277 MINT-7945693 STRING: ENSP00000309166
    RBM22Q9NW642, ENSP000001998144MINT-8337002 STRING: ENSP00000199814
    PQBP1O608282, ENSP000003657474MINT-8336947 STRING: ENSP00000365747
    WDR77Q9BQA12, ENSP000002350904MINT-8337288 STRING: ENSP00000235090
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome IC11991638

    AQR 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AQR



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for AQR gene: 
    NM_014691.2  

    Unigene Cluster for AQR:

    Aquarius homolog (mouse)
    Hs.510958  [show with all ESTs]
    Unigene Representative Sequence: EF553519
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000156471(uc001ziv.3) ENST00000543879 ENST00000559090 ENST00000559767
    ENST00000560117 ENST00000558202
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat AQR using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate AQR:
    hsa-miR-1303 hsa-miR-7-1* hsa-miR-7-2*
    SwitchGear 3'UTR luciferase reporter plasmidAQR 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for AQR
    Predesigned siRNA for gene silencing in human, mouse, rat AQR
    Clone
    Products:
         
    OriGene clones in human, mouse for AQR (see all 6)
    OriGene ORF clones in mouse, rat for AQR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: AQR (NM_014691)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AQR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQR
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for AQR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AQR
      QuantiTect SYBR Green Assays in human, mouse, rat AQR
      QuantiFast Probe-based Assays in human, mouse, rat AQR

    Additional mRNA sequence: 

    AB011132.3 AK001173.1 AK291615.1 AK315815.1 BC027452.1 BC036913.2 BC070379.1 BC108262.1 
    BC127111.1 BC127112.1 EF553519.1 

    10 DOTS entries:

    DT.101984214  DT.451517  DT.92018129  DT.65284904  DT.121022589  DT.95323551  DT.121022606  DT.121022619 
    DT.121022626  DT.95360192 

    Selected AceView cDNA sequences (see all 156):

    BM966944 BM974504 BX282519 CD654522 BC036913 NM_014691 AL701083 CF552371 
    CD652467 BI761492 CB116098 AB011132 AU132909 CR608508 AI138832 BX647820 
    AA548649 BI089220 AA343831 AU125182 AA421031 BX281465 AA351172 W04499 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AQR (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:              -                                                                                                                 -                           
    SP2:              -                                                                                                                                             
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34a · 34b ^ 35 ^ 36a · 36b · 36c · 36d
    SP1:              -                                                     -           -                                       
    SP2:              -                                                     -           -                                       
    SP3:                                                                                                                        
    SP4:                                                                                                                        
    SP5:                                                                                -                                       


    ECgene alternative splicing isoforms for AQR

    (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)
    About This Section

    TryGeneCards Plus

    AQR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTGATCAC
    AQR Expression
    About this image


    AQR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    AQR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AQR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.510958
        Custom PCR Arrays for AQR
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for AQR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AQR
    QuantiTect SYBR Green Assays in human, mouse, rat AQR
    QuantiFast Probe-based Assays in human, mouse, rat AQR
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQR

    (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)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AQR gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aqr1 , 5 aquarius1, 5 87.25(n)1
    95.4(a)1
      2 (57.57 cM)5
    118341  NM_009702.21  NP_033832.21 
     1141011705 
    chicken
    (Gallus gallus)
    Aves AQR1 aquarius homolog (mouse) 79.61(n)
    88.18(a)
      423296  XM_421216.4  XP_421216.4 
    lizard
    (Anolis carolinensis)
    Reptilia AQR6
    aquarius intron-binding spliceosomal factor
    85(a)
    1 ↔ 1
    1(30358817-30426151)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.240672 Xenopus laevis transcribed sequences 75.37(n)    BU901034.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636112 hypothetical protein MGC63611 73.58(n)   393436  BC055165.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG313681 CG31368 62.13(n)
    66.77(a)
      41437  NM_206476.2  NP_996198.2 
    worm
    (Caenorhabditis elegans)
    Secernentea emb-41 emb-4 56.4(n)
    56.8(a)
      180232  NM_001269902.1  NP_001256831.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEN16
    Presumed helicase required for RNA polymerase II t...
    10(a)
    1 → many
    XII(993434-1000129) YLR430W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons EMB27651 EMB2765 55.9(n)
    51.91(a)
      818459  NM_179966.1  NP_850297.1 
    rice
    (Oryza sativa)
    Liliopsida Os.202882 Oryza sativa (japonica cultivar-group) cDNA clone0 more 70.95(n)    AK110991.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for AQR gene
    ZNFX12  SETX2  

    AQR 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for AQR (see all 2291)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs10553561,2
    C,F,O,A,H--35148102(-) CCACAA/GGGAGA 1 -- ds500125Minor allele frequency- G:0.29MN NA NS EA WA CSA 2668
    rs1831681331,2
    --35148134(+) AGGCAG/TAAAAC 1 -- ds50010--------
    rs1149981381,2
    C,F--35148231(+) CTTGCC/ACAGAT 1 -- ds50011Minor allele frequency- A:0.09WA 118
    rs172372141,2
    C,F--35148249(+) GCAGAG/ATCCTC 1 -- ds50014Minor allele frequency- A:0.02NA 262
    rs1471685901,2
    C--35148337(+) TGGTG-/TG    
       GAGAA
    TGGAG
    1 -- ds50010--------
    rs746518001,2
    C,F--35148376(+) CTAATC/TCTGAG 1 -- ds50011Minor allele frequency- T:0.09WA 118
    rs1876102781,2
    --35148469(+) AAGGAA/GATGCA 1 -- ds50010--------
    rs1925742471,2
    --35148475(+) ATGCAC/TGTAAC 1 -- ds50010--------
    rs740097471,2
    C,F--35148493(+) ATAGAT/CTGAAG 1 -- ds50013Minor allele frequency- C:0.34WA CSA 121
    rs1836012641,2
    --35148827(+) ATACAC/TATAAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for AQR (35147732 - 35262040 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for AQR:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749560CNV Deletion23290073
    esv2668318CNV Deletion23128226
    nsv507772CNV Insertion20534489
    esv28857CNV Loss19812545
    nsv832967CNV Loss17160897
    dgv2356n71CNV Loss21882294
    nsv457106CNV Gain19166990
    nsv522411CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AQR
    DNA2.0 Custom Variant and Variant Library Synthesis for AQR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 610548    OMIM disorders: --

    6 diseases for AQR:    
    About MalaCards
    louping ill    tick-borne encephalitis    dengue hemorrhagic fever    hemorrhagic fever
    encephalitis    malaria

    1 disease from the University of Copenhagen DISEASES database for AQR:
    tick-borne encephalitis

    AQR for disorders           About GeneDecksing

    Genetic Association Database (GAD): AQR
    Human Genome Epidemiology (HuGE) Navigator: AQR (2 documents)

    Export disorders for AQR 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)
    About This Section

    TryGeneCards Plus

    PubMed articles for AQR gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with AQR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A spliceosomal intron binding protein, IBP160, links Position- dependent assembly of intron-encoded box C/D snoRNP to pre-mRNA splicing. (PubMed id 16949364)1, 2, 3 Hirose T.... Steitz J.A. (Mol. Cell 2006)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PubMed id 20588308)1, 4 Silva L.K....Teixeira M.G. (Eur. J. Hum. Genet. 2010)
    4. 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)
    5. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)1, 2 Jurica M.S.... Moore M.J. (RNA 2002)
    6. Aquarius, a novel gene isolated by gene trapping with an RNA-dependent RNA polymerase motif. (PubMed id 9626505)1, 3 Sam M....Bernstein A. (Dev. Dyn. 1998)
    7. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (DNA Res. 1998)
    8. DBIRD complex integrates alternative mRNA splicing with RNA polymerase II transcript elongation. (PubMed id 22446626)1 Close P.... Svejstrup J.Q. (Nature 2012)
    9. Dynamic protein-protein interaction wiring of the human spliceosome. (PubMed id 22365833)1 Hegele A....Stelzl U. (Mol. Cell 2012)
    10. The cellular EJC interactome reveals higher-order mRNP structure and an EJC-SR protein nexus. (PubMed id 23084401)1 Singh G....Moore M.J. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 9716 HGNC: 29513 AceView: AQR Ensembl:ENSG00000021776 euGenes: HUgn9716
    ECgene: AQR Kegg: 9716 H-InvDB: AQR

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0560

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for AQR Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for AQR gene:
    Search GeneIP for patents involving AQR

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for AQR  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for AQR  
     OriGene MassSpec something-or-other for AQR   OriGene clones in human, mouse for AQR  
     OriGene qSTAR qPCR primer pairs in human, mouse for AQR   OriGene Purified Protein for AQR  
     OriGene ORF clones in mouse, rat for AQR   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for AQR   OriGene Custom Protein Services for AQR  

     
     
     Block miRNA regulation of human, mouse, rat AQR using miScript Target Protectors SeqTarget long-range PCR primers for resequencing AQR
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AQR Predesigned siRNA for gene silencing in human, mouse, rat AQR
     QuantiFast Probe-based Assays in human, mouse, rat AQR QuantiTect SYBR Green Assays in human, mouse, rat AQR
     Custom PCR Arrays for AQR Search Chromatin IP Primers for AQR
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AQR  Search GeneGlobe Interaction Network for AQR
     Regulatory tfbs in AQR promoter
     GenScript Custom Purified and Recombinant Proteins Services for AQR GenScript cDNA clones with any tag delivered in your preferred vector for AQR
     GenScript Custom Assay Services for AQR GenScript Custom overexpressing Cell Line Services for AQR
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for AQR
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     AQR antibodies
     Antibodies for AQR
     See all of Abcam's Antibodies, Kits and Proteins for AQR
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for AQR
     Antibodies for AQR
     ELISAs for AQR
     CLIAs for AQR



     Browse ESI BIO Cell Lines and PureStem Progenitors for AQR
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQR
     SwitchGear 3'UTR luciferase reporter plasmids for AQR
     SwitchGear Promoter luciferase reporter plasmids for AQR
     ThermoFisher Antibody for AQR
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQR
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AQR
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AQR
     LSBio Antibodies in human, mouse, rat for AQR
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      AQR gene at Home site.
    Version: 3.12.162 20 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4