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    AQR aquarius intron-binding spliceosomal factor [ Homo sapiens (human) ]

    Gene ID: 9716, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AQRprovided by HGNC
    Official Full Name
    aquarius intron-binding spliceosomal factorprovided by HGNC
    Primary source
    HGNC:HGNC:29513
    See related
    Ensembl:ENSG00000021776 MIM:610548; AllianceGenome:HGNC:29513
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IBP160; fSAP164
    Summary
    Enables 3'-5' RNA helicase activity and single-stranded RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U2-type catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 10.7), thyroid (RPKM 9.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AQR in Genome Data Viewer
    Location:
    15q14
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (34851782..34969742, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (32656986..32774951, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (35143983..35261943, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene GJD2 divergent transcript Neighboring gene uncharacterized LOC107984776 Neighboring gene tubulin alpha pseudogene 11 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:35166353-35167552 Neighboring gene Sharpr-MPRA regulatory region 15538 Neighboring gene ribosomal protein L36a pseudogene 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:35260004-35260568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9183 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:35277351-35278003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9186 Neighboring gene uncharacterized LOC105370764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9187 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:35285419-35286618 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:35287050-35287721 Neighboring gene zinc finger protein 770 Neighboring gene uncharacterized LOC105370763

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. AQR is a novel type 2 diabetes-associated gene that regulates signaling pathways critical for glucose metabolism. Song C, et al. J Genet Genomics, 2018 Feb 20. PMID 29502958
    2. A spliceosomal intron binding protein, IBP160, links position-dependent assembly of intron-encoded box C/D snoRNP to pre-mRNA splicing. Hirose T, et al. Mol Cell, 2006 Sep 1. PMID 16949364
    3. Aquarius, a novel gene isolated by gene trapping with an RNA-dependent RNA polymerase motif. Sam M, et al. Dev Dyn, 1998 Jun. PMID 9626505
    4. An Atomic Structure of the Human Spliceosome. Zhang X, et al. Cell, 2017 May 18. PMID 28502770
    5. The RNA helicase Aquarius exhibits structural adaptations mediating its recruitment to spliceosomes. De I, et al. Nat Struct Mol Biol, 2015 Feb. PMID 25599396

    See all (99) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Our study suggests that AQR is a novel type 2 diabetes-associated gene that regulates signaling pathways critical for glucose metabolism.
      Title: AQR is a novel type 2 diabetes-associated gene that regulates signaling pathways critical for glucose metabolism.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Dengue hemorrhagic fever is associated with polymorphisms in JAK1.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of aquarius homolog (AQR) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0560, DKFZp686B23123

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5' RNA helicase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of U2-type catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    RNA helicase aquarius
    Names
    aquarius homolog
    functional spliceosome-associated protein 164
    intron-binding protein aquarius
    intron-binding protein of 160 kDa
    NP_055506.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_014691.3 → NP_055506.1  RNA helicase aquarius

      Status: VALIDATED

      Source sequence(s)
      AC018868
      Consensus CDS
      CCDS42013.1
      UniProtKB/Swiss-Prot
      A0JP17, A5YKK3, O60306, Q2YDX9, Q6IRU8, Q6PIC8
      UniProtKB/TrEMBL
      A8K6F0
      Related
      ENSP00000156471.5, ENST00000156471.10
      Conserved Domains (3) summary
      cd18808
      Location:1140 → 1323
      SF1_C_Upf1; C-terminal helicase domain of Upf1-like family helicases
      cd17935
      Location:797 → 1152
      EEXXQc_AQR; EEXXQ-box helicase domain of AQR
      pfam16399
      Location:18 → 802
      Aquarius_N; Intron-binding protein aquarius N-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      34851782..34969742 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      32656986..32774951 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60306.4 GenPept UniProtKB/Swiss-Prot:O60306

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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