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

Gene ID: 165545, updated on 17-Sep-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. Predicted to be involved in DNA duplex unwinding. Predicted to be part of spliceosomal complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in duodenum (RPKM 13.5), small intestine (RPKM 12.8) and 6 other tissues See more
Orthologs
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Genomic context

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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: HPA RNA-seq normal tissues 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. 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. 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
  3. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
  4. 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
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

See all (10) 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 RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in intracellular anatomical structure IBA
Inferred from Biological aspect of Ancestor
more info
  
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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