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RECQL5 Gene

protein-coding   GIFtS: 60
GCID: GC17M073622

RecQ Protein-Like 5

  See RECQL5-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RecQ Protein-Like 51 2 3     ATP-Dependent DNA Helicase Q52
RECQ52 3 5     EC 3.6.4.123
DNA Helicase, RecQ-Like Type 52 3     RecQ53
RecQ Protein 51     EC 3.6.18

External Ids:    HGNC: 99501   Entrez Gene: 94002   Ensembl: ENSG000001084697   OMIM: 6037815   UniProtKB: O947623   

Export aliases for RECQL5 gene to outside databases

Previous GC identifers: GC17M073593 GC17M076648 GC17M074087 GC17M074220 GC17M071134 GC17M069046


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RECQL5 Gene:
The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also
prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Jul 2011)

GeneCards Summary for RECQL5 Gene:
RECQL5 (RecQ protein-like 5) is a protein-coding gene. Diseases associated with RECQL5 include rapadilino syndrome, and rothmund-thomson syndrome. GO annotations related to this gene include DNA helicase activity and nucleic acid binding. An important paralog of this gene is RECQL4.

UniProtKB/Swiss-Prot: RECQ5_HUMAN, O94762
Function: Isoform beta is a DNA helicase that plays an important role in DNA replication, transcription and
repair. Inhibits elongation of stalled transcripts at DNA damage sites by binding to the RNA polymerase II
subunit POLR2A and blocking the TCEA1 binding site. Required for mitotic chromosome separation after cross-over
events and cell cycle progress. Required for efficient DNA repair, including repair of inter-strand cross-links.
Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination

Gene Wiki entry for RECQL5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RECQL5 gene promoter:
         CREB   AML1a   HTF   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RECQL5 promoter sequence
   Search Chromatin IP Primers for RECQL5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RECQL5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25

RECQL5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RECQL5 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M073622:  view genomic region     (about GC identifiers)

Start:
73,622,925 bp from pter      End:
73,663,269 bp from pter
Size:
40,345 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RECQ5_HUMAN, O94762 (See protein sequence)
Recommended Name: ATP-dependent DNA helicase Q5  
Size: 991 amino acids; 108858 Da
Subunit: Monomer. Interacts with TOP2A, TOP3A and TOP3B. Isoform beta interacts with RNA polymerase II subunit
POLR2A. Identified in a complex with the RNA polymerase II core bound to DNA. Isoform beta interacts with RAD51
1 PDB 3D structure from and Proteopedia for RECQL5:
4BK0 (3D)    
Secondary accessions: Q9H0B1 Q9P1W7 Q9UNC8
Alternative splicing: 3 isoforms:  O94762-1   O94762-2   O94762-3   

Explore the universe of human proteins at neXtProt for RECQL5: NX_O94762

Explore proteomics data for RECQL5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys22
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for RECQL5 (O94762)
     LVVDEAH  GKSLCYQ  SQWGHDFR  YYQESGRAGRD 


    See RECQL5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001003715.1  NP_001003716.1  NP_004250.4  

    ENSEMBL proteins: 
     ENSP00000394820   ENSP00000317636   ENSP00000462678   ENSP00000462291   ENSP00000463701  
     ENSP00000463099   ENSP00000462077   ENSP00000414933   ENSP00000341983   ENSP00000462248  
     ENSP00000462547  

    RECQL5 Human Recombinant Protein Products:

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    Novus Biologicals RECQL5 Protein
    Novus Biologicals RECQL5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RECQL5

     
    Search eBioscience for Proteins for RECQL5 

    RECQL5 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for RECQL5
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    LSBio Antibodies in human, mouse, rat for RECQL5

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    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for RECQL5
    Cloud-Clone Corp. CLIAs for RECQL5
    Search eBioscience for ELISAs for RECQL5 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR004589 DNA_helicase_ATP-dep_RecQ
     IPR002464 DNA/RNA_helicase_DEAH_CS
     IPR011991 WHTH_DNA-bd_dom
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry O94762

    ProtoNet protein and cluster: O94762

    1 Blocks protein domain: IPB002464 ATP-dependent helicase

    UniProtKB/Swiss-Prot: RECQ5_HUMAN, O94762
    Similarity: Belongs to the helicase family. RecQ subfamily
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    Find genes that share domains with RECQL5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RECQ5_HUMAN, O94762
    Function: Isoform beta is a DNA helicase that plays an important role in DNA replication, transcription and
    repair. Inhibits elongation of stalled transcripts at DNA damage sites by binding to the RNA polymerase II
    subunit POLR2A and blocking the TCEA1 binding site. Required for mitotic chromosome separation after cross-over
    events and cell cycle progress. Required for efficient DNA repair, including repair of inter-strand cross-links.
    Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Genatlas biochemistry entry for RECQL5:
    DNA helicase ATP dependent,homologous to E coli RecQ,ubiquitously expressed,upregulated at the G2-M stage of the
    cell cycle,RecQl family

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000993RNA polymerase II core binding IDA--
    GO:0003676nucleic acid binding IEA--
    GO:0003677DNA binding ----
    GO:0003678DNA helicase activity NAS10710432
    GO:0004386helicase activity ----
         
    Find genes that share ontologies with RECQL5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RECQL5:
     Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Recql5):
     cellular  no phenotypic analysis 

    Find genes that share phenotypes with RECQL5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Recql5tm1.1Glu for RECQL5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RECQL5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RECQL5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RECQL5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RECQL5

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RECQL5 (see all 14):
    hsa-miR-374b* hsa-miR-26a-2* hsa-miR-224 hsa-miR-4251 hsa-miR-4297 hsa-miR-764 hsa-miR-455-3p hsa-miR-3926
    SwitchGear 3'UTR luciferase reporter plasmidRECQL5 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RECQL5
    Predesigned siRNA for gene silencing in human, mouse, rat RECQL5

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    GenScript: all cDNA clones in your preferred vector (see all 3): RECQL5 (NM_001003716)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RECQL5
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RECQ5_HUMAN, O94762: Isoform Beta: Nucleus, nucleoplasm. Note=Recruited to sites of DNA damage, such as
    single-strand breaks and inter-strand cross-links, and at stalled replication forks
    RECQ5_HUMAN, O94762: Isoform Alpha: Cytoplasm
    RECQ5_HUMAN, O94762: Isoform Gamma: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm NAS10710432
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm NAS10710432
    GO:0016591DNA-directed RNA polymerase II, holoenzyme IDA--

    Find genes that share ontologies with RECQL5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RECQL5 About    
    See pathways by source

    SuperPathContained pathways About
    1Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    DNA Damage0.32


    Find genes that share SuperPaths with RECQL5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for RECQL5
        Cell Cycle / Checkpoint Control
    DNA Damage


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RECQL5
    Interactions:

        Search GeneGlobe Interaction Network for RECQL5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RECQL5 (O947622, 3 ENSP000003176364) via UniProtKB, MINT, STRING, and/or I2D (see all 133)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CUX1Q139483, ENSP000002925354I2D: score=1 MINT-64665 I2D: score=4 STRING: ENSP00000292535
    CREB1P162202, 3MINT-63231 I2D: score=5 
    DDX42Q86XP32, 3MINT-63238 I2D: score=5 
    EEF1GP266412, 3MINT-63232 I2D: score=5 
    ITGB3BPQ133522, 3MINT-63235 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006259DNA metabolic process NAS10710432
    GO:0006260DNA replication IMP--
    GO:0006281DNA repair IMP--
    GO:0006310DNA recombination IEA--
    GO:0007067mitosis IMP--

    Find genes that share ontologies with RECQL5           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RECQL5 (RECQ5)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RECQL5 gene (3 alternative transcripts): 
    NM_001003715.3  NM_001003716.3  NM_004259.6  

    Unigene Cluster for RECQL5:

    RecQ protein-like 5
    Hs.632229  [show with all ESTs]
    Unigene Representative Sequence: NM_004259
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000578865(uc002jot.4) ENST00000443199 ENST00000423245(uc010dgk.3)
    ENST00000317905(uc010dgl.3) ENST00000581825 ENST00000582548 ENST00000580707
    ENST00000579265 ENST00000585205 ENST00000578201 ENST00000583673 ENST00000582464
    ENST00000579739 ENST00000581827 ENST00000420326(uc002joz.4 uc002jpa.4 uc002jpb.2)
    ENST00000340830 ENST00000584999 ENST00000580078
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RECQL5 (see all 14):
    hsa-miR-374b* hsa-miR-26a-2* hsa-miR-224 hsa-miR-4251 hsa-miR-4297 hsa-miR-764 hsa-miR-455-3p hsa-miR-3926
    SwitchGear 3'UTR luciferase reporter plasmidRECQL5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RECQL5
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): RECQL5 (NM_001003716)
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RECQL5
      QuantiTect SYBR Green Assays in human, mouse, rat RECQL5
      QuantiFast Probe-based Assays in human, mouse, rat RECQL5

    Additional mRNA sequence: 

    AB006533.1 AB042823.1 AB042824.1 AB042825.1 AF193041.1 AK075084.1 AK304168.1 AL136869.1 
    BC000570.2 BC005103.1 BC016911.1 BC063440.1 CR533497.1 EF560729.1 

    15 DOTS entries:

    DT.75118005  DT.40129987  DT.92428272  DT.120933836  DT.100819207  DT.75197578  DT.92428275  DT.100819212 
    DT.100819214  DT.100819215  DT.120933725  DT.92428270  DT.97810143  DT.40111528  DT.100028571 

    1 AceView cDNA sequence:

    BC042989 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RECQL5 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12a · 12b ^
    SP1:                    -     -                                                           -     -     -     -     -     -     -     -     -     -     -     -   
    SP2:                    -     -           -                                               -     -     -     -     -     -     -     -     -     -     -     -   
    SP3:                    -     -                                                           -                                                                     
    SP4:                                                                                      -                                                                     
    SP5:                    -     -                                                                                                                                 

    ExUns: 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b
    SP1:                                                                    -                                 
    SP2:                                                                    -                                 
    SP3:                                                                                                      
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for RECQL5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RECQL5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGCGTGCA
    RECQL5 Expression
    About this image


    RECQL5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)
             Cerebral Cortex
    RECQL5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RECQL5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632229

    UniProtKB/Swiss-Prot: RECQ5_HUMAN, O94762
    Tissue specificity: Ubiquitous

        Custom PCR Arrays for RECQL5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RECQL5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for RECQL5 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Recql51 , 5 RecQ protein-like 51, 5 82.2(n)1
    79(a)1
      11 (80.91 cM)5
    1704721  NM_130454.21  NP_569721.11 
     1158925955 
    chicken
    (Gallus gallus)
    Aves RECQL51 RecQ protein-like 5 64.56(n)
    62.42(a)
      373891  XM_001233564.2  XP_001233565.2 
    lizard
    (Anolis carolinensis)
    Reptilia RECQL56
    RecQ protein-like 5
    54(a)
    1 ↔ 1
    2(113833225-113915806)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia recql51 RecQ protein-like 5 62.11(n)
    59.07(a)
      100216093  NM_001142076.1  NP_001135548.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.285712 Transcribed sequence with weak similarity to protein more 74.66(n)    57071527 
    fruit fly
    (Drosophila melanogaster)
    Insecta RecQ56
    homolog of RecQ
    33(a)
    1 ↔ 1
    3L(14621260-14625177)
    worm
    (Caenorhabditis elegans)
    Secernentea wrn-13
    rcq-51
    rcq-51 36(a)3
    46.59(n)1
    40.1(a)1
      II(6554924-6559094)3
    1755221  NM_065409.31  NP_497810.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SGS16
    Nucleolar DNA helicase of the RecQ family; involve...
    13(a)
    1 → many
    XIII(640915-645258) YMR190C


    ENSEMBL Gene Tree for RECQL5 (if available)
    TreeFam Gene Tree for RECQL5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RECQL5 gene
    RECQL42  WRN2  RECQL2  BLM2  
    2 SIMAP similar genes for RECQL5 using alignment to 11 protein entries:     RECQ5_HUMAN (see all proteins):
    PP1045    RECQL

    Find genes that share paralogs with RECQL5           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for RECQL5
    PGOHUM00000262967


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RECQL5 (see all 1041)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1996078891,2
    C--69066114(+) CCTCAA/GGGGGG 1 -- int10--------
    rs353303921,2
    C--69076675(+) TTTTT-/TGAGAC 3 -- int11Minor allele frequency- T:0.00NA 2
    rs1132096291,2
    F--69081909(+) CAACAC/TGGAGA 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs561589871,2
    C--73626922(+) CTGTGT/-GGGGG 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs559828171,2
    C--73626923(+) TGTGG-/TGGGGG 1 -- int10--------
    rs678650701,2
    C--73626924(+) GTGGG-/GG/   
       T
    /TGT
    GGGGG
    2 -- int1 cds10--------
    rs1116922131,2
    C,F--73644578(+) CTCCCG/AAGTAG 1 -- int11Minor allele frequency- A:0.50NA 2
    rs592011261,2
    C--73644769(+) TTTTT-/T/TT  
            
    GAGAT
    1 -- int12NA 4
    rs1134764611,2
    C,F--73651537(+) CTTCCG/AGGTTC 3 -- int11Minor allele frequency- A:0.50WA 2
    rs114136441,2
    C--73660135(+) AAAAA-/A/AA  
            
    GAAAG
    3 -- int1 trp31NA 2

    HapMap Linkage Disequilibrium report for RECQL5 (73622925 - 73663269 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RECQL5 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv516133CNV Loss19592680
    dgv3259n71CNV Loss21882294
    nsv470603CNV Loss18288195
    dgv3262n71CNV Loss21882294
    dgv3260n71CNV Loss21882294
    dgv3256n71CNV Loss21882294
    nsv833543CNV Loss17160897
    nsv908800CNV Loss21882294
    nsv833544CNV Loss17160897
    dgv3264n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RECQL5
    DNA2.0 Custom Variant and Variant Library Synthesis for RECQL5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603781    OMIM disorders: --

    3 diseases for RECQL5:    
    About MalaCards
    rapadilino syndrome    rothmund-thomson syndrome    baller-gerold syndrome

    5 diseases from the University of Copenhagen DISEASES database for RECQL5:
    Rothmund-Thomson syndrome     Bloom syndrome     Werner syndrome     Rapadilino syndrome
    Baller-Gerold syndrome

    Find genes that share disorders with RECQL5           About GenesLikeMe

    5 Novoseek inferred disease relationships for RECQL5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rothmund-thomson syndrome 94.9 2 12724411 (1), 11738818 (1)
    bloom syndrome 90.9 2 12724411 (1), 20075015 (1)
    werner syndrome 86.1 1 12724411 (1)
    genetic disorder 32.4 1 11032027 (1)
    cancer 21.2 1 18719387 (1)


    Export disorders for RECQL5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RECQL5 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with RECQL5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. (PubMed id 9878247)1, 2, 3, 9 Kitao S.... Shimamoto A. (Genomics 1998)
    2. Drosophila and human RecQ5 exist in different isoforms generated by alternative splicing. (PubMed id 10471747)1, 2, 9 Sekelsky J.J.... Hawley R.S. (Nucleic Acids Res. 1999)
    3. RecQL5 promotes genome stabilization through two parallel mechanisms--interacting with RNA polymerase II and acting as a helicase. (PubMed id 20231364)1, 2, 9 Islam M.N....Wang W. (Mol. Cell. Biol. 2010)
    4. Human RecQ5-beta, a large isomer of RecQ5 DNA helicase, localizes in the nucleoplasm and interacts with topoisomerases 3-alpha and 3- beta. (PubMed id 10710432)1, 2, 9 Shimamoto A.... Furuichi Y. (Nucleic Acids Res. 2000)
    5. Structural mimicry in transcription regulation of human RNA polymerase II by the DNA helicase RECQL5. (PubMed id 23748380)1, 2 Kassube S.A....Nogales E. (amp 2013)
    6. Human RECQL5 participates in the removal of endogenous DNA damage. (PubMed id 22973052)1, 2 Tadokoro T....Bohr V.A. (Mol. Biol. Cell 2012)
    7. Human RECQL5 overcomes thymidine-induced replication stress. (PubMed id 20643585)1, 2 Blundred R....Bryant H.E. (DNA Repair (Amst.) 2010)
    8. Physical interaction of RECQ5 helicase with RAD51 facilitates its anti-recombinase activity. (PubMed id 20348101)1, 2 Schwendener S....Janscak P. (J. Biol. Chem. 2010)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Direct inhibition of RNA polymerase II transcription by RECQL5. (PubMed id 19570979)1, 9 AygA1n O....Svejstrup J.Q. (J. Biol. Chem. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9400 HGNC: 9950 AceView: RECQL5.1 Ensembl:ENSG00000108469 euGenes: HUgn9400
    ECgene: RECQL5 H-InvDB: RECQL5

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RECQL5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RECQL5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for RECQL5 gene:
    Search GeneIP for patents involving RECQL5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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