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    Recql4 RecQ like helicase 4 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 300057, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Recql4provided by RGD
    Official Full Name
    RecQ like helicase 4provided by RGD
    Primary source
    RGD:1307732
    See related
    EnsemblRapid:ENSRNOG00000032446 AllianceGenome:RGD:1307732
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable DNA binding activity and DNA helicase activity. Predicted to be involved in DNA unwinding involved in DNA replication; double-strand break repair via homologous recombination; and telomeric D-loop disassembly. Predicted to act upstream of or within several processes, including negative regulation of sister chromatid cohesion; positive regulation of cell population proliferation; and skeletal system morphogenesis. Predicted to be located in chromosome, telomeric region and nucleoplasm. Predicted to be active in chromosome; cytoplasm; and nucleus. Human ortholog(s) of this gene implicated in Baller-Gerold syndrome; Rothmund-Thomson syndrome; and rapadilino syndrome. Orthologous to human RECQL4 (RecQ like helicase 4). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Testes (RPKM 35.5), Thymus (RPKM 26.5) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Recql4 in Genome Data Viewer
    Location:
    7q34
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 7 NC_086025.1 (110304092..110311426, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 7 NC_051342.1 (108423453..108430790, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 7 NC_005106.4 (117765892..117773128, complement)

    Chromosome 7 - NC_086025.1Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1, regulatory subunit 16A Neighboring gene glutamic--pyruvic transaminase Neighboring gene major facilitator superfamily domain containing 3 Neighboring gene leucine rich repeat containing 14 Neighboring gene leucine rich repeat containing 24 Neighboring gene similar to human chromosome 8 open reading frame 82 Neighboring gene Rho GTPase activating protein 39

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Lindor NM, et al. Am J Med Genet, 2000 Jan 31. PMID 10678659
    2. Recql4 haploinsufficiency in mice leads to defects in osteoblast progenitors: Implications for low bone mass phenotype. Yang J, et al. Biochem Biophys Res Commun, 2006 May 26. PMID 16600186
    3. Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. Mann MB, et al. Hum Mol Genet, 2005 Mar 15. PMID 15703196
    4. The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation. Ng AJ, et al. PLoS Genet, 2015 Apr. PMID 25859855, Free PMC Article
    5. Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4. Xu X, et al. EMBO J, 2009 Mar 4. PMID 19177149, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables 3'-5' DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT enables 3'-5' DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA/DNA annealing activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables bubble DNA binding ISO
    Inferred from Sequence Orthology
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidized purine DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables telomeric D-loop binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA unwinding involved in DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within negative regulation of sister chromatid cohesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within pigmentation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within positive regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of sister chromatid cohesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within skeletal system development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within skeletal system morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in telomere maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in telomere maintenance ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in telomeric D-loop disassembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ATP-dependent DNA helicase Q4
    Names
    RecQ helicase-like 4
    RecQ protein-like 4
    NP_001123966.1
    XP_006241868.1
    XP_008763788.1
    XP_008763789.1
    XP_038934760.1

    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_001130494.1 → NP_001123966.1  ATP-dependent DNA helicase Q4

      See identical proteins and their annotated locations for NP_001123966.1

      Status: PROVISIONAL

      Source sequence(s)
      CH473950
      UniProtKB/TrEMBL
      A6HSC9, D4A5W5
      Related
      ENSRNOP00000099781.1, ENSRNOT00000129887.1
      Conserved Domains (4) summary
      smart00343
      Location:394 → 408
      ZnF_C2HC; zinc finger
      smart00487
      Location:490 → 693
      DEXDc; DEAD-like helicases superfamily
      cd00079
      Location:707 → 839
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      pfam00270
      Location:499 → 672
      DEAD; DEAD/DEAH box helicase

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086025.1 Reference GRCr8

      Range
      110304092..110311426 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039078832.2 → XP_038934760.1  ATP-dependent DNA helicase Q4 isoform X4

      UniProtKB/TrEMBL
      D4A5W5
      Conserved Domains (4) summary
      smart00343
      Location:394 → 408
      ZnF_C2HC; zinc finger
      cd18794
      Location:660 → 804
      SF2_C_RecQ; C-terminal helicase domain of the RecQ family helicases
      cd18018
      Location:452 → 654
      DEXHc_RecQ4-like; DEAH-box helicase domain of RecQ4 and similar proteins
      cd22289
      Location:2 → 50
      RecQL4_SLD2_NTD; N-terminal homeodomain-like domain of metazoan RecQ protein-like 4 (RecQL4), fungal DNA replication regulator SLD2 and similar proteins

    2. XM_006241806.4 → XP_006241868.1  ATP-dependent DNA helicase Q4 isoform X3

      UniProtKB/TrEMBL
      D4A5W5
      Related
      ENSRNOP00000047177.4, ENSRNOT00000045135.6
      Conserved Domains (4) summary
      smart00343
      Location:394 → 408
      ZnF_C2HC; zinc finger
      smart00487
      Location:491 → 694
      DEXDc; DEAD-like helicases superfamily
      cd00079
      Location:708 → 840
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      pfam00270
      Location:500 → 673
      DEAD; DEAD/DEAH box helicase

    3. XM_008765567.3 → XP_008763789.1  ATP-dependent DNA helicase Q4 isoform X2

      UniProtKB/TrEMBL
      D4A5W5
      Conserved Domains (4) summary
      smart00343
      Location:394 → 408
      ZnF_C2HC; zinc finger
      smart00487
      Location:496 → 699
      DEXDc; DEAD-like helicases superfamily
      cd00079
      Location:713 → 845
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      pfam00270
      Location:505 → 678
      DEAD; DEAD/DEAH box helicase

    4. XM_008765566.3 → XP_008763788.1  ATP-dependent DNA helicase Q4 isoform X1

      UniProtKB/TrEMBL
      D4A5W5
      Conserved Domains (4) summary
      smart00343
      Location:394 → 408
      ZnF_C2HC; zinc finger
      smart00487
      Location:497 → 700
      DEXDc; DEAD-like helicases superfamily
      cd00079
      Location:714 → 846
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      pfam00270
      Location:506 → 679
      DEAD; DEAD/DEAH box helicase

    RNA

    1. XR_005486588.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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