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

Gene ID: 300057, updated on 27-Nov-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, Nov 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

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