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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
  • 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 DNA Double-Strand Break Repair. 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.

No data available for Entrez Gene 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around AQR on UCSC Golden Path with GeneCards custom track

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

Proteomics data for AQR Gene at MOPED

Post-translational modifications for AQR Gene

  • Ubiquitination at Lys 604 and Lys 1111
  • 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 :
  • 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.
genes like me logo Genes that share phenotypes with AQR: view

Animal Model Products

miRNA for AQR Gene

miRTarBase miRNAs that target AQR

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for AQR Gene COMPARTMENTS Subcellular localization image for AQR gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for AQR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0016020 membrane IDA 19946888
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 IC 11991638
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:

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 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, MOPED, and MaxQB for AQR Gene



SOURCE GeneReport for Unigene cluster for AQR Gene Hs.510958

genes like me logo Genes that share expression patterns with AQR: view

Protein tissue co-expression partners for AQR Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia AQR 35
  • 92.29 (n)
  • 96.56 (a)
AQR 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AQR 35
  • 92.5 (n)
  • 96.36 (a)
AQR 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aqr 35
  • 87.25 (n)
  • 95.4 (a)
Aqr 16
Aqr 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AQR 35
  • 99.64 (n)
  • 99.87 (a)
AQR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aqr 35
  • 87.4 (n)
  • 95.42 (a)
oppossum
(Monodelphis domestica)
Mammalia AQR 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AQR 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves AQR 35
  • 79.61 (n)
  • 88.18 (a)
AQR 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AQR 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aqr 35
  • 72.36 (n)
  • 81.88 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24067 35
zebrafish
(Danio rerio)
Actinopterygii aqr 35
  • 70.44 (n)
  • 80.62 (a)
zgc63611 35
aqr 36
  • 73 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10294 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004028 35
  • 60.78 (n)
  • 67.33 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31368 35
  • 62.13 (n)
  • 66.77 (a)
CG31368 36
  • 62 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea emb-4 35
  • 56.4 (n)
  • 56.8 (a)
emb-4 36
  • 53 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEN1 36
  • 10 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB2765 35
  • 55.9 (n)
  • 51.91 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.5034 35
rice
(Oryza sativa)
Liliopsida Os.20288 35
Os03g0387000 35
  • 59.96 (n)
  • 60.79 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3384 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07866 35
  • 50.25 (n)
  • 45.03 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5743 36
  • 62 (a)
OneToOne
Species with no ortholog for AQR:
  • 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
rs5811839 -- 34,878,386(+) GTCTC(-/A)AAAAA intron-variant
rs5811840 -- 34,904,845(+) CCCAC(-/T)TACTG intron-variant
rs6495719 -- 34,867,284(+) GCTAT(A/C)TCTGA intron-variant
rs6495721 -- 34,879,075(+) AAGTG(A/G)TAGAC intron-variant
rs6495722 -- 34,893,611(+) TGcac(A/G)cacac intron-variant

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

Variant ID Type Subtype PubMed ID
nsv522411 CNV Gain 19592680
nsv457106 CNV Gain 19166990
nsv832967 CNV Loss 17160897
dgv2356n71 CNV Loss 21882294
nsv507772 CNV Insertion 20534489
esv28857 CNV Loss 19812545
esv2668318 CNV Deletion 23128226
esv2749560 CNV Deletion 23290073

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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 J.A. (Mol. Cell 2006) 2 3 4 67
  2. Aquarius, a novel gene isolated by gene trapping with an RNA-dependent RNA polymerase motif. (PMID: 9626505) Sam M. … Bernstein A. (Dev. Dyn. 1998) 2 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for AQR Gene

Sources for AQR Gene

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