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    DQX1 DEAQ-box RNA dependent ATPase 1 [ Homo sapiens (human) ]

    Gene ID: 165545, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DQX1provided by HGNC
    Official Full Name
    DEAQ-box RNA dependent ATPase 1provided by HGNC
    Primary source
    HGNC:HGNC:20410
    See related
    Ensembl:ENSG00000144045 MIM:620580; AllianceGenome:HGNC:20410
    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
    Summary
    Predicted to enable RNA binding activity and helicase activity. Predicted to be located in nucleus. Predicted to be part of spliceosomal complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in duodenum (RPKM 13.5), small intestine (RPKM 12.8) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DQX1 in Genome Data Viewer
    Location:
    2p13.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74518131..74526231, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74526696..74534796, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74745258..74753358, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene LBX2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74734085-74735015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16069 Neighboring gene polycomb group ring finger 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74739895-74740563 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11667 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74742813-74743314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74743315-74743814 Neighboring gene T cell leukemia homeobox 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74756279-74757161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16075 Neighboring gene AUP1 lipid droplet regulating VLDL assembly factor Neighboring gene HtrA serine peptidase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:74763605-74764106 Neighboring gene lysyl oxidase like 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11669 Neighboring gene Sharpr-MPRA regulatory regions 4995 and 13004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74781947-74782464 Neighboring gene docking protein 1

    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. Integrative analysis of DNA methylation-driven genes for the prognosis of lung squamous cell carcinoma using MethylMix. Li R, et al. Int J Med Sci, 2020. PMID 32218699, Free PMC Article
    2. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article
    3. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    4. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
    5. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Integrative analysis of DNA methylation-driven genes for the prognosis of lung squamous cell carcinoma using MethylMix.
      Title: Integrative analysis of DNA methylation-driven genes for the prognosis of lung squamous cell carcinoma using MethylMix.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23757

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables forked DNA-dependent helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables four-way junction helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables single-stranded 3'-5' DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ATP-dependent RNA helicase DQX1
    Names
    DEAQ RNA-dependent ATPase DQX1
    DEAQ box polypeptide 1 (RNA-dependent ATPase)
    NP_598376.2
    XP_011530947.1
    XP_047299539.1
    XP_047299540.1
    XP_054196855.1
    XP_054196856.1
    XP_054196857.1

    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_133637.3 → NP_598376.2  ATP-dependent RNA helicase DQX1

      See identical proteins and their annotated locations for NP_598376.2

      Status: VALIDATED

      Source sequence(s)
      AA515987, BC033238, BC075018, BM987933, DA852016
      Consensus CDS
      CCDS1949.2
      UniProtKB/Swiss-Prot
      Q6B017, Q8NAM8, Q8TE96
      Related
      ENSP00000384621.3, ENST00000404568.4
      Conserved Domains (5) summary
      smart00487
      Location:41 → 231
      DEXDc; DEAD-like helicases superfamily
      smart00847
      Location:465 → 530
      HA2; Helicase associated domain (HA2) Add an annotation
      cd00046
      Location:65 → 204
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cl22853
      Location:8 → 89
      Motor_domain; Myosin and Kinesin motor domain
      pfam07717
      Location:565 → 674
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      74518131..74526231 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443583.1 → XP_047299539.1  ATP-dependent RNA helicase DQX1 isoform X1

    2. XM_011532645.1 → XP_011530947.1  ATP-dependent RNA helicase DQX1 isoform X2

      Conserved Domains (2) summary
      smart00847
      Location:223 → 288
      HA2; Helicase associated domain (HA2) Add an annotation
      pfam07717
      Location:323 → 432
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

    3. XM_047443584.1 → XP_047299540.1  ATP-dependent RNA helicase DQX1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      74526696..74534796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340880.1 → XP_054196855.1  ATP-dependent RNA helicase DQX1 isoform X1

    2. XM_054340881.1 → XP_054196856.1  ATP-dependent RNA helicase DQX1 isoform X2

    3. XM_054340882.1 → XP_054196857.1  ATP-dependent RNA helicase DQX1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TE96.2 GenPept UniProtKB/Swiss-Prot:Q8TE96

    Gene LinkOut

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

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