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

Gene ID: 9716, updated on 7-Apr-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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 10.7), thyroid (RPKM 9.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
15q14
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (34851782..34969742, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (32656986..32774951, complement)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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 (89) 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)

Genotypes

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 RNA binding HDA PubMed 
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 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

    See identical proteins and their annotated locations for NP_055506.1

    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_2023_10

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.

Chemical Information
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