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RECQL Gene

protein-coding   GIFtS: 65
GCID: GC12M021621

RecQ Helicase-Like

(Previous name: RecQ protein-like (DNA helicase Q1-like))
  See RECQL-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 Helicase-Like1 2     DNA-Dependent ATPase Q12 3
RecQ Protein-Like (DNA Helicase Q1-Like)1 2     DNA Helicase Q1-Like1
RecQ Protein-Like 12 3     ATP-Dependent DNA Helicase Q12
RECQL12 3     EC 3.6.4.123
RecQ12 3     RECQ13
DNA Helicase, RecQ-Like Type 12 3     EC 3.6.18

External Ids:    HGNC: 99481   Entrez Gene: 59652   Ensembl: ENSG000000047007   OMIM: 6005375   UniProtKB: P460633   

Export aliases for RECQL gene to outside databases

Previous GC identifers: GC12M021908 GC12M021624 GC12M021522 GC12M021513 GC12M021395


(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 RECQL Gene:
The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved
in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. Some
members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal
instability. The biological function of this helicase has not yet been determined. Two alternatively spliced
transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described. (provided by
RefSeq, Jul 2008)

GeneCards Summary for RECQL Gene:
RECQL (RecQ helicase-like) is a protein-coding gene. Diseases associated with RECQL include rapadilino syndrome, and rothmund-thomson syndrome. GO annotations related to this gene include ATP-dependent DNA helicase activity and ATP-dependent 3'-5' DNA helicase activity. An important paralog of this gene is RECQL4.

UniProtKB/Swiss-Prot: RECQ1_HUMAN, P46063
Function: DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other
mutagens. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and
double-stranded DNA in a 3'-5' direction

Gene Wiki entry for RECQL 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_000012.11  NT_009714.18  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RECQL gene promoter:
         TBP   Sox5   NCX/Ncx   CUTL1   POU3F2   C/EBPalpha   IRF-2   HFH-1   TGIF   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRECQL promoter sequence
   Search Chromatin IP Primers for RECQL

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


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

Entrez Gene cytogenetic band: 12p12   Ensembl cytogenetic band:  12p12.1   HGNC cytogenetic band: 12p12.1

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M021621:  view genomic region     (about GC identifiers)

Start:
21,621,844 bp from pter      End:
21,654,603 bp from pter
Size:
32,760 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RECQ1_HUMAN, P46063 (See protein sequence)
Recommended Name: ATP-dependent DNA helicase Q1  
Size: 649 amino acids; 73457 Da
Subunit: Interacts with EXO1 and MLH1
Sequence caution: Sequence=AAA60261.1; Type=Frameshift; Positions=615, 649;
2 PDB 3D structures from and Proteopedia for RECQL:
2V1X (3D)        2WWY (3D)    
Secondary accessions: A8K6G2

Explore the universe of human proteins at neXtProt for RECQL: NX_P46063

Explore proteomics data for RECQL at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys38, Lys47, Lys91
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RECQL (P46063) (see all 7)
     ADCILYY  GKSLCYQ  SQWGHDFR  LINGRYKG 


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

    REFSEQ proteins (2 alternative transcripts): 
    NP_002898.2  NP_116559.1  

    ENSEMBL proteins: 
     ENSP00000416739   ENSP00000395449   ENSP00000379400   ENSP00000318727   ENSP00000445555  
     ENSP00000439069   ENSP00000446036   ENSP00000440700  

    RECQL Human Recombinant Protein Products:

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

     
    Search eBioscience for Proteins for RECQL 

     
    antibodies-online proteins for RECQL (5 products) 

     
    Search antibodies-online for peptides for RECQL

    RECQL Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    antibodies-online antibodies for RECQL (17 products) 

    RECQL Assay Products:

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    Cloud-Clone Corp. ELISAs for RECQL
    Cloud-Clone Corp. CLIAs for RECQL
    Search eBioscience for ELISAs for RECQL 
    antibodies-online kits for RECQL (6 products) 


    (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 7):
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR004589 DNA_helicase_ATP-dep_RecQ
     IPR011991 WHTH_DNA-bd_dom
     IPR027417 P-loop_NTPase
     IPR018982 RQC_domain

    Graphical View of Domain Structure for InterPro Entry P46063

    ProtoNet protein and cluster: P46063

    UniProtKB/Swiss-Prot: RECQ1_HUMAN, P46063
    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 RECQL           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: RECQ1_HUMAN, P46063
    Function: DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other
    mutagens. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and
    double-stranded DNA in a 3'-5' direction
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Genatlas biochemistry entry for RECQL:
    DNA helicase with DNA dependent ATPase activity isolated from HeLa cells,ubiquitously expressed,upregulated at the
    G2/M stage of the cell cycle,putatively involved in DNA repair and/or chromosome segregation,RecQl family

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003678DNA helicase activity IDA11562355
    GO:0004003ATP-dependent DNA helicase activity TAS7961977
    GO:0004386helicase activity ----
         
    Find genes that share ontologies with RECQL           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RECQL:
     Increased S DNA content 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Recql):
     cellular 

    Find genes that share phenotypes with RECQL           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Recqltm1Pjb for RECQL

       genOway: Develop your customized and physiologically relevant rodent model for RECQL

    miRNA
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    miRTarBase miRNAs that target RECQL:
    hsa-mir-192-5p (MIRT026858), hsa-mir-92a-3p (MIRT049712), hsa-mir-26b-5p (MIRT030018), hsa-mir-215-5p (MIRT024543)

    Block miRNA regulation of human, mouse, rat RECQL using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate RECQL:
    hsa-miR-146a* hsa-miR-433 hsa-miR-3163 hsa-miR-1283 hsa-miR-411 hsa-miR-32* hsa-miR-606 hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidRECQL 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RECQL
    Predesigned siRNA for gene silencing in human, mouse, rat RECQL

    Gene Editing
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    OriGene ORF clones in mouse, rat for RECQL
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    GenScript: all cDNA clones in your preferred vector (see all 2): RECQL (NM_002907)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RECQL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RECQL
    Addgene plasmids for RECQL 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RECQL

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    eBioscience FlowRNA Probe Sets ( VA6-11541) for RECQL 


    (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
    RECQ1_HUMAN, P46063: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    cytosol2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0015630microtubule cytoskeleton ----

    Find genes that share ontologies with RECQL           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 RECQL About    
    See pathways by source

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


    Find genes that share SuperPaths with RECQL           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for RECQL
        DNA Damage


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

        GeneGlobe Interaction Network for RECQL

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

    Selected Interacting proteins for RECQL (P460631, 2, 3 ENSP000003954494) via UniProtKB, MINT, STRING, and/or I2D (see all 127)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KPNA2P522921, 2, 3, ENSP000003324554EBI-2823728,EBI-349938 MINT-6733215 MINT-6733231 I2D: score=3 STRING: ENSP00000332455
    RPA1P276942, 3, ENSP000002547194MINT-4790124 I2D: score=2 STRING: ENSP00000254719
    KPNA4O006291, 2, 3, ENSP000003343734EBI-2823728,EBI-396343 MINT-6733224 MINT-6733208 I2D: score=3 STRING: ENSP00000334373
    APLFQ8IW192, ENSP000003070044MINT-4790124 STRING: ENSP00000307004
    BANF1O755313, ENSP000003102754I2D: score=1 STRING: ENSP00000310275
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000733DNA strand renaturation IDA19177149
    GO:0006260DNA replication IEA--
    GO:0006281DNA repair IEA--
    GO:0006310DNA recombination IEA--
    GO:0032508DNA duplex unwinding TAS7527136

    Find genes that share ontologies with RECQL           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 RECQL (RECQ1)

    1 HMDB Compound for RECQL    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    1 Novoseek inferred chemical compound relationship for RECQL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 0 4 15899892 (1), 8056767 (1)



    Find genes that share compounds with RECQL           About GenesLikeMe



    (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 RECQL gene (2 alternative transcripts): 
    NM_002907.3  NM_032941.2  

    Unigene Cluster for RECQL:

    RecQ protein-like (DNA helicase Q1-like)
    Hs.235069  [show with all ESTs]
    Unigene Representative Sequence: NM_002907
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000444129(uc001rex.3 uc001rey.3) ENST00000421138 ENST00000396093
    ENST00000314748 ENST00000542432 ENST00000536240 ENST00000536964 ENST00000539672

    miRNA
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    Block miRNA regulation of human, mouse, rat RECQL using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate RECQL:
    hsa-miR-146a* hsa-miR-433 hsa-miR-3163 hsa-miR-1283 hsa-miR-411 hsa-miR-32* hsa-miR-606 hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidRECQL 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RECQL
    Clone
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    OriGene ORF clones in mouse, rat for RECQL
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    GenScript: all cDNA clones in your preferred vector (see all 2): RECQL (NM_002907)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RECQL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RECQL
    Addgene plasmids for RECQL 
    Primer
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    OriGene qPCR primer pairs and template standards for RECQL
    OriGene qSTAR qPCR primer pairs in human, mouse for RECQL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RECQL
      QuantiTect SYBR Green Assays in human, mouse, rat RECQL
      QuantiFast Probe-based Assays in human, mouse, rat RECQL
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA6-11541) for RECQL 

    Additional mRNA sequence: 

    AK291627.1 AY157499.1 BC001052.2 BT007119.1 D37984.1 L36140.1 

    15 DOTS entries:

    DT.75102422  DT.415003  DT.95366455  DT.92435879  DT.121197254  DT.100732031  DT.97868447  DT.121197227 
    DT.121197243  DT.100797542  DT.100037201  DT.121197305  DT.100797541  DT.120710195  DT.100797544 

    Selected AceView cDNA sequences (see all 199):

    CA426494 BQ882675 AJ712779 AW304813 AI926871 CA389891 BM786040 AI872221 
    BX483092 W42459 AI962943 BQ182335 BM128034 N26913 N39871 AW673766 
    AW613329 CA431135 AI677786 BQ962215 CB148897 AI040805 BQ182943 BM015357 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RECQL (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                          -                                                                                                                                 
    SP4:                    -     -                                                                                                                                 
    SP5:                                -     -                                                                                                                     


    ECgene alternative splicing isoforms for RECQL

    (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)
    About This Section

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    RECQL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTAAGAAA
    RECQL Expression
    About this image


    RECQL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    RECQL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RECQL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.235069

    UniProtKB/Swiss-Prot: RECQ1_HUMAN, P46063
    Tissue specificity: High expression in heart, lung, skeletal muscle and kidney, low expression in brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RECQL

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RECQL gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Recql1 , 5 RecQ protein-like1, 5 81.12(n)1
    85.19(a)1
      6 (73.91 cM)5
    196911  NM_023042.31  NP_075529.21 
     1423503425 
    chicken
    (Gallus gallus)
    Aves RECQL1 RecQ protein-like (DNA helicase Q1-like) 73.12(n)
    73.53(a)
      378910  NM_204393.1  NP_989724.1 
    lizard
    (Anolis carolinensis)
    Reptilia RECQL6
    RecQ protein-like (DNA helicase Q1-like)
    80(a)
    1 ↔ 1
    AAWZ02038284(21-12217)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.183302 Transcribed sequence with weak similarity to protein refNP_116559.1 (H.sapiens) RecQ protein-like, isoform 1; DNA helicase Q1-like; ATP-dependent DNA helicase Q1 [Homo sapiens] less 74.89(n)    BX760306.1 
    zebrafish
    (Danio rerio)
    Actinopterygii recql1 RecQ protein-like (DNA helicase Q1-like) 59.46(n)
    58.21(a)
      566018  NM_001045096.2  NP_001038561.2 
    worm
    (Caenorhabditis elegans)
    Secernentea K02F3.121 , 3 K02F3.121 42(a)3
    54.39(n)1
    47.5(a)1
      III(856563-860036)3
    1752461  NM_001027485.21  NP_001022656.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SGS1(YMR190C)4 Nucleolar DNA helicase of the RecQ family; involved in genome integrity maintenance; regulates chromosome synapsis and meiotic joint molecule/crossover formation; potential role as repressor of a subset of rapamycin responsive genes; rapidly lost in response to rapamycin in Rrd1p-dependent manner; similar to human BLM and WRN proteins implicated in Bloom and Werner syndromes less   --   13(645258-640915) 855228  NP_013915.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RECQL21 RECQL2 52.89(n)
    44.79(a)
      840026  NM_102875.3  NP_174421.2 
    rice
    (Oryza sativa)
    Liliopsida Os.195772 Oryza sativa (japonica cultivar-group) cDNA cloneJ013123C14, full insert sequence less 72.75(n)    AK066096.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RECQL gene
    RECQL42  WRN2  RECQL52  BLM2  
    3 SIMAP similar genes for RECQL using alignment to 7 protein entries:     RECQ1_HUMAN (see all proteins):
    RECQL5    BLM    WRN

    Find genes that share paralogs with RECQL           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for RECQL
    PGOHUM00000242887


    (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 RECQL (see all 669)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs64135131,2
    C,F--21624695(-) ATGTTT/-AGGGT 2 -- int15Minor allele frequency- -:0.14MN 392
    rs1859852551,2
    --21624772(+) ATGGTC/TTCTGT 2 -- int10--------
    rs1408278911,2
    --21624809(+) ATATAA/TAAAAA 2 -- int10--------
    rs1909884021,2
    --21624993(+) TTAAGA/TGACCA 2 -- int10--------
    rs748395411,2
    F--21625009(+) CTGATT/GTATAT 2 -- int11Minor allele frequency- G:0.03EA 120
    rs1471531521,2
    C--21625024(+) CACTC-/TTGTTAT 2 -- int10--------
    rs730826521,2
    C,F--21625064(+) ATTTCT/GCTGTC 2 -- int12Minor allele frequency- G:0.02WA NA 238
    rs2013560281,2
    C--21625131(+) CTTAC-/TCATGA 2 -- int10--------
    rs2014564121,2
    --21625134(+) ACCAT-/GGTAA 
            
    GAGGT
    2 -- int10--------
    rs176832461,2
    C,F--21625141(+) AGGTAC/GTGGCT 2 -- int15Minor allele frequency- G:0.02NA EA 382

    HapMap Linkage Disequilibrium report for RECQL (21621844 - 21654603 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RECQL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv268148CNV Insertion20981092
    nsv898895CNV Loss21882294
    nsv898896CNV Gain21882294

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

    (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: 600537    OMIM disorders: --

    4 diseases for RECQL:    
    About MalaCards
    rapadilino syndrome    rothmund-thomson syndrome    baller-gerold syndrome    xeroderma pigmentosum, group c

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

    Find genes that share disorders with RECQL           About GenesLikeMe

    6 Novoseek inferred disease relationships for RECQL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rothmund-thomson syndrome 95.2 1 11979727 (1)
    bloom syndrome 92.1 3 10806190 (1), 11979727 (1), 20075015 (1)
    werner syndrome 89.6 1 11979727 (1)
    xeroderma pigmentosum 61.3 1 8790942 (1)
    genetic disorder 47.6 1 11032027 (1)
    cancer 23.4 4 18719387 (1)

    Genetic Association Database (GAD): RECQL
    Human Genome Epidemiology (HuGE) Navigator: RECQL (7 documents)

    Export disorders for RECQL 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 RECQL gene, integrated from 10 sources (see all 79):
    (articles sorted by number of sources associating them with RECQL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ. (PubMed id 7961977)1, 2, 3, 9 Puranam K.L. and Blackshear P.J. (J. Biol. Chem. 1994)
    2. Molecular cloning of cDNA encoding human DNA helicase Q1 which has homology to Escherichia coli Rec Q helicase and localization of the gene at chromosome 12p12. (PubMed id 7527136)1, 2, 3, 9 Seki M....Enomoto T. (Nucleic Acids Res. 1994)
    3. RECQ1 helicase interacts with human mismatch repair factors that regulate genetic recombination. (PubMed id 15886194)1, 2, 9 Doherty K.M.... Brosh R.M. Jr. (J. Biol. Chem. 2005)
    4. Purification of two DNA-dependent adenosinetriphosphatases having DNA helicase activity from HeLa cells and comparison of the properties of the two enzymes. (PubMed id 8056767)1, 2, 9 Seki M.... Enomoto T. (J. Biochem. 1994)
    5. DNA repair gene polymorphisms and risk of pancreatic cancer. (PubMed id 19147782)1, 4 Li D....Abbruzzese J.L. (Clin. Cancer Res. 2009)
    6. Single nucleotide polymorphism in RECQL and survival in resectable pancreatic adenocarcinoma. (PubMed id 19768149)1, 4 Cotton R.T....Fisher W.E. (HPB (Oxford) 2009)
    7. Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array. (PubMed id 19536092)1, 4 Kweekel D.M....Guchelaar H.J. (Br. J. Cancer 2009)
    8. Significant effect of homologous recombination DNA repair gene polymorphisms on pancreatic cancer survival. (PubMed id 16540687)1, 4 Li D....Abbruzzese J.L. (Cancer Res. 2006)
    9. Single nucleotide polymorphisms of RecQ1, RAD54L, and ATM genes are associated with reduced survival of pancreatic cancer. (PubMed id 16520463)1, 4 Li D....Abbruzzese J.L. (J. Clin. Oncol. 2006)
    10. 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)

    (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: 5965 HGNC: 9948 AceView: RECQL Ensembl:ENSG00000004700 euGenes: HUgn5965
    ECgene: RECQL H-InvDB: RECQL

    (According to HUGE)
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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)
    About This Section

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    NameDescription
    PharmGKB entry for RECQL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RECQL Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RECQL gene:
    Search GeneIP for patents involving RECQL

    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, eBioscience, antibodies-online, 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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