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Aliases for AQR Gene

Aliases for AQR Gene

  • Aquarius Intron-Binding Spliceosomal Factor 2 3 5
  • Functional Spliceosome-Associated Protein 164 2 3
  • Intron-Binding Protein Of 160 KDa 3 4
  • IBP160 3 4
  • Intron-Binding Protein Aquarius 3
  • Aquarius Homolog (Mouse) 2
  • RNA Helicase Aquarius 3
  • Aquarius Homolog 3
  • EC 3.6.4.13 4
  • KIAA0560 4
  • FSAP164 3

External Ids for AQR Gene

Previous GeneCards Identifiers for AQR Gene

  • GC15M030490
  • GC15M028043
  • GC15M032726
  • GC15M032863
  • GC15M032935
  • GC15M035147
  • GC15M011994

Summaries for AQR Gene

GeneCards Summary for AQR Gene

AQR (Aquarius Intron-Binding Spliceosomal Factor) is a Protein Coding gene. Among its related pathways are mRNA Splicing - Major Pathway and Transcription-Coupled Nucleotide Excision Repair (TC-NER). An important paralog of this gene is ZNFX1.

UniProtKB/Swiss-Prot for AQR Gene

  • Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:25599396, PubMed:28502770, PubMed:28076346). Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis (PubMed:16949364). Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly (PubMed:16949364). 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 (PubMed:16949364). Has ATP-dependent RNA helicase activity and can unwind double-stranded RNA molecules with a 3 overhang (in vitro) (PubMed:25599396).

Additional gene information for AQR Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQR Gene

Genomics for AQR Gene

GeneHancer (GH) Regulatory Elements for AQR Gene

Promoters and enhancers for AQR 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
GH15J034968 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 694.5 +0.4 371 1.9 HDGF FOXA2 PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 AQR HNRNPLP2 NUTM1 ENSG00000259336 GOLGA8A GOLGA8B ENSG00000259665 ZNF770 GC15P034944
GH15J034223 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 47 +744.9 744935 2.5 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 EMC4 AQR NOP10 HNRNPLP2 NUTM1 SLC12A6 ENSG00000259287 ENSG00000259336 KATNBL1
GH15J034984 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 44.9 -17.2 -17247 5 PKNOX1 SMAD1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 ZNF2 IRF4 YY1 ZNF770 AQR HNRNPLP2 NUTM1 ENSG00000279364
GH15J034513 Enhancer 1.2 Ensembl ENCODE 75.2 +455.1 455138 2.2 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 ZNF766 E2F8 AQR ENSG00000259287 HNRNPLP2 GOLGA8A NUTM1 ENSG00000259408 LINC02252 ENSG00000259468 FSCN1P1 ENSG00000259336
GH15J035544 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 29.3 -577.8 -577794 6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 DPH6-DT DPH6 AQR GC15P035618
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AQR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AQR gene promoter:
  • AREB6
  • TBP
  • TFIID
  • CUTL1
  • NCX
  • AML1a
  • FOXD1

Genomic Locations for AQR Gene

Genomic Locations for AQR Gene
chr15:34,851,782-34,969,839
(GRCh38/hg38)
Size:
118,058 bases
Orientation:
Minus strand
chr15:35,147,732-35,262,040
(GRCh37/hg19)
Size:
114,309 bases
Orientation:
Minus strand

Genomic View for AQR Gene

Genes around AQR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AQR Gene

Proteins for AQR Gene

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

    Protein Symbol:
    O60306-AQR_HUMAN
    Recommended name:
    RNA helicase aquarius
    Protein Accession:
    O60306
    Secondary Accessions:
    • A0JP17
    • A5YKK3
    • Q2YDX9
    • Q6IRU8
    • Q6PIC8

    Protein attributes for AQR Gene

    Size:
    1485 amino acids
    Molecular mass:
    171295 Da
    Quaternary structure:
    • Identified in the spliceosome C complex (PubMed:11991638, PubMed:16949364, PubMed:25599396, PubMed:28502770, PubMed:28076346). Component of the XAB2 complex, a multimeric protein complex composed of XAB2, PRPF19, AQR, ZNF830, ISY1, and PPIE (PubMed:17981804). Identified in a pentameric intron-binding (IB) complex composed of AQR, XAB2, ISY1, ZNF830 and PPIE that is incorporated into the spliceosome as a preassembled complex (PubMed:25599396). The IB complex does not contain PRPF19 (PubMed:25599396). Within the spliceosome, interacts with SNRPA1, SF3B1, SF3B3, SF3A1 and SF3A2 (PubMed:25599396).
    SequenceCaution:
    • Sequence=BAA25486.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AQR Gene

neXtProt entry for AQR Gene

Post-translational modifications for AQR Gene

  • Ubiquitination at posLast=11111111 and posLast=604604
  • Modification sites at PhosphoSitePlus

Other Protein References for AQR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AQR Gene

Domains & Families for AQR Gene

Gene Families for AQR Gene

Protein Domains for AQR Gene

Suggested Antigen Peptide Sequences for AQR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60306

UniProtKB/Swiss-Prot:

AQR_HUMAN :
  • Contains an N-terminal domain with structural similarity to ARM repeat regions; this domain functions as scaffold for protein-protein interactions, but is not required for RNA binding or for ATP-dependent RNA helicase activity.
  • Belongs to the CWF11 family.
Domain:
  • Contains an N-terminal domain with structural similarity to ARM repeat regions; this domain functions as scaffold for protein-protein interactions, but is not required for RNA binding or for ATP-dependent RNA helicase activity.
Family:
  • Belongs to the CWF11 family.
genes like me logo Genes that share domains with AQR: view

Function for AQR Gene

Molecular function for AQR Gene

UniProtKB/Swiss-Prot Function:
Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:25599396, PubMed:28502770, PubMed:28076346). Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis (PubMed:16949364). Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly (PubMed:16949364). 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 (PubMed:16949364). Has ATP-dependent RNA helicase activity and can unwind double-stranded RNA molecules with a 3 overhang (in vitro) (PubMed:25599396).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.

Enzyme Numbers (IUBMB) for AQR Gene

Phenotypes From GWAS Catalog for AQR Gene

Gene Ontology (GO) - Molecular Function for AQR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IEA 22658674
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 22365833
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with AQR: view
genes like me logo Genes that share phenotypes with AQR: view

Animal Model Products

miRNA for AQR Gene

miRTarBase miRNAs that target AQR

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AQR Gene

Localization for AQR Gene

Subcellular locations from UniProtKB/Swiss-Prot for AQR Gene

Nucleus. Nucleus, nucleoplasm. Note=Localizes to speckle-like regions of the nucleoplasm. {ECO:0000269 PubMed:16949364}.

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 AQR gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AQR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 28076346
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0016020 membrane HDA 19946888
GO:0071007 U2-type catalytic step 2 spliceosome IDA 28076346
genes like me logo Genes that share ontologies with AQR: view

Pathways & Interactions for AQR Gene

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

Gene Ontology (GO) - Biological Process for AQR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with AQR: view

No data available for SIGNOR curated interactions for AQR Gene

Drugs & Compounds for AQR Gene

No Compound Related Data Available

Transcripts for AQR Gene

mRNA/cDNA for AQR Gene

Unigene Clusters for AQR Gene

Aquarius homolog (mouse):
Representative Sequences:

Clone Products

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

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:
SP6:

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: -
SP6:

Relevant External Links for AQR Gene

GeneLoc Exon Structure for
AQR
ECgene alternative splicing isoforms for
AQR

Expression for AQR Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AQR Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.3), CD8 Tcells (7.3), and Lymph node (6.2).

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



Protein tissue co-expression partners for AQR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AQR Gene:

AQR

SOURCE GeneReport for Unigene cluster for AQR Gene:

Hs.510958

Evidence on tissue expression from TISSUES for AQR Gene

  • Nervous system(4.5)
  • Liver(4.2)
  • Skin(2.5)
  • Blood(2.3)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with AQR: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AQR Gene

Orthologs for AQR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AQR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AQR 34 33
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AQR 34 33
  • 92.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AQR 34 33
  • 92.29 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AQR 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aqr 33
  • 87.4 (n)
mouse
(Mus musculus)
Mammalia Aqr 16 34 33
  • 87.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AQR 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves AQR 34 33
  • 79.61 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AQR 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aqr 33
  • 72.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24067 33
zebrafish
(Danio rerio)
Actinopterygii aqr 34 33
  • 70.44 (n)
OneToOne
zgc63611 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10294 33
fruit fly
(Drosophila melanogaster)
Insecta CG31368 34 33
  • 62.13 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004028 33
  • 60.78 (n)
worm
(Caenorhabditis elegans)
Secernentea emb-4 34 33
  • 56.4 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEN1 34
  • 10 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB2765 33
  • 55.9 (n)
rice
(Oryza sativa)
Liliopsida Os03g0387000 33
  • 59.96 (n)
Os.20288 33
barley
(Hordeum vulgare)
Liliopsida Hv.5034 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5743 34
  • 62 (a)
OneToOne
Cin.3384 33
bread mold
(Neurospora crassa)
Ascomycetes NCU07866 33
  • 50.25 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3384 33
Species where no ortholog for AQR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AQR Gene

ENSEMBL:
Gene Tree for AQR (if available)
TreeFam:
Gene Tree for AQR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AQR: view image

Paralogs for AQR Gene

Paralogs for AQR Gene

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

Variants for AQR Gene

Sequence variations from dbSNP and Humsavar for AQR Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000038535 -- 34,901,284(-) C/T intron_variant
rs1000039319 -- 34,904,799(-) T/A intron_variant
rs1000091961 -- 34,901,630(-) A/G intron_variant
rs1000098142 -- 34,898,243(-) G/T intron_variant
rs1000123959 -- 34,920,171(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
esv2668318 CNV deletion 23128226
esv2749560 CNV deletion 23290073
esv2761865 CNV gain 21179565
esv28857 CNV loss 19812545
esv3569431 CNV gain 25503493
esv3636126 CNV loss 21293372
esv3636127 CNV gain 21293372
nsv1134428 CNV deletion 24896259
nsv457106 CNV gain 19166990
nsv507772 OTHER sequence alteration 20534489
nsv522411 CNV gain 19592680
nsv569153 CNV gain 21841781
nsv569154 CNV loss 21841781
nsv832967 CNV loss 17160897
nsv977699 CNV duplication 23825009

Variation tolerance for AQR Gene

Residual Variation Intolerance Score: 3.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.51; 55.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AQR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AQR

SNP Genotyping and Copy Number Assay Products

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

Disorders for AQR Gene

Additional Disease Information for AQR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for AQR Gene.

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

Publications for AQR Gene

  1. A spliceosomal intron binding protein, IBP160, links position-dependent assembly of intron-encoded box C/D snoRNP to pre-mRNA splicing. (PMID: 16949364) Hirose T … Steitz JA (Molecular cell 2006) 2 3 4 58
  2. Cryo-EM structure of a human spliceosome activated for step 2 of splicing. (PMID: 28076346) Bertram K … Lührmann R (Nature 2017) 3 4 58
  3. The RNA helicase Aquarius exhibits structural adaptations mediating its recruitment to spliceosomes. (PMID: 25599396) De I … Pena V (Nature structural & molecular biology 2015) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PMID: 20588308) Silva LK … Teixeira MG (European journal of human genetics : EJHG 2010) 3 44 58

Products for AQR Gene

Sources for AQR Gene

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