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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
  • Aquarius Homolog 3
  • 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 Transcription-Coupled Nucleotide Excision Repair (TC-NER) and mRNA Splicing - Major Pathway. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is ZNFX1.

UniProtKB/Swiss-Prot for AQR Gene

  • 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.

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

Regulatory Elements for AQR Gene

Enhancers for AQR 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
GH15H034513 1.3 Ensembl ENCODE 75.1 +455.1 455139 2 PKNOX1 ARNT ARID4B FEZF1 DMAP1 YBX1 ZNF2 ZNF766 ZNF302 SP3 AQR HNRNPLP2 GOLGA8A ENSG00000259287 LOC101929988 NUTM1 LINC02252 ENSG00000259468 FSCN1P1 ENSG00000259336
GH15H034968 1.1 ENCODE 44.5 +0.4 372 1 HDGF FOXA2 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 AQR HNRNPLP2 NUTM1 ENSG00000259336 GOLGA8A GOLGA8B ENSG00000259665 ZNF770 GC15P034944
GH15H034223 1.1 ENCODE 34.4 +744.9 744935 2 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 NOP10 AQR HNRNPLP2 NUTM1 SLC12A6 ENSG00000259287 ENSG00000259336 KATNBL1 EMC4
GH15H034331 2 FANTOM5 Ensembl ENCODE dbSUPER 12.8 +634.6 634600 8 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF766 ZNF207 ZNF143 MXD4 NOP10 GOLGA8A AQR ENSG00000259287 LOC101929988 PRELID1P4 SLC12A6 ENSG00000207091
GH15H034984 1.1 ENCODE 19.7 -17.2 -17248 4 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF207 AQR HNRNPLP2 ZNF770 ENSG00000279364
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AQR on UCSC Golden Path with GeneCards custom track

Promoters for AQR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000074858 239 1601 HDGF FOXA2 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766

Genomic Location for AQR Gene

Chromosome:
15
Start:
34,851,782 bp from pter
End:
34,969,839 bp from pter
Size:
118,058 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:
    Intron-binding protein 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. Component of the XAB2 complex, a multimeric protein complex composed of XAB2, PRPF19, AQR, ZNF830, ISY1, and PPIE.
    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=604604 and Lys1111
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

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 :
  • Belongs to the CWF11 family.
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:
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.

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 IEA,IDA 22658674
GO:0005515 protein binding IPI 22365833
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

CRISPR Products

miRNA for AQR Gene

miRTarBase miRNAs that target AQR

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AQR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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. 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 IEA --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0016020 membrane IDA 19946888
GO:0071013 catalytic step 2 spliceosome IDA 11991638
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

Unigene Clusters for AQR Gene

Aquarius homolog (mouse):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AQR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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

Primer Products

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 33 34
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia AQR 33 34
  • 92.5 (n)
cow
(Bos Taurus)
Mammalia AQR 33 34
  • 92.29 (n)
oppossum
(Monodelphis domestica)
Mammalia AQR 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aqr 33
  • 87.4 (n)
mouse
(Mus musculus)
Mammalia Aqr 33 16 34
  • 87.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AQR 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves AQR 33 34
  • 79.61 (n)
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 33 34
  • 70.44 (n)
zgc63611 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10294 33
fruit fly
(Drosophila melanogaster)
Insecta CG31368 33 34
  • 62.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004028 33
  • 60.78 (n)
worm
(Caenorhabditis elegans)
Secernentea emb-4 33 34
  • 56.4 (n)
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
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)

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 Sequence Context AA Info Type
rs1000038535 -- 34,901,284(+) TAATG(C/T)TAAAG intron-variant
rs1000039319 -- 34,904,799(+) GTACT(A/T)AGAAG intron-variant
rs1000091961 -- 34,901,630(+) TTTTT(A/G)AATCA intron-variant
rs1000098142 -- 34,898,243(+) GCAGA(G/T)GGTCA intron-variant
rs1000123959 -- 34,920,171(+) GATGA(A/G)AAAAC 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)

Relevant External Links for AQR Gene

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

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

Disorders for AQR Gene

Relevant External Links for AQR

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

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 60
  2. 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 45 60
  3. Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PMID: 20588308) Silva LK … Teixeira MG (European journal of human genetics : EJHG 2010) 3 45 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PMID: 11991638) Jurica MS … Moore MJ (RNA (New York, N.Y.) 2002) 3 4 60

Products for AQR Gene

Sources for AQR Gene

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