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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RECQL Gene

protein-coding   GIFtS: 61
GCID: GC12M021621

RecQ protein-like (DNA helicase Q1-like)
 Explore 13 diseases affiliated with
RECQL via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RECQL    

Aliases
for RECQL gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
RecQ Protein-Like (DNA Helicase Q1-Like)1 2     RecQL11
RecQ11 2 3     ATP-Dependent DNA Helicase Q12
RecQ Protein-Like 12 3     EC 3.6.4.123
RECQL12 3     RECQ13
DNA Helicase, RecQ-Like Type 12 3     EC 3.6.18
DNA-Dependent ATPase Q12 3     

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


Summaries
for RECQL gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for RECQL:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009714.17  
Regulatory elements:
   SABiosciences 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 plasmid: RECQL promoter sequence
   Search SABiosciences Chromatin IP Primers for RECQL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for RECQL gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Nucleus
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P46063

    • 4/7 DME Specific Peptides for RECQL (P46063) (see all 7)
     ADCILYY  GKSLCYQ  SQWGHDFR  LINGRYKG 

    RECQL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000416739   ENSP00000395449   ENSP00000379400   ENSP00000318727   ENSP00000445555  
     ENSP00000439069   ENSP00000446036   ENSP00000440700  

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    OriGene Purified Protein: RECQL
    OriGene Protein Over-expression Lysate (see all 3): RECQL
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    Novus Biologicals RECQL Proteins
    Novus Biologicals RECQL Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RECQL

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    RECQL for ontologies           About GeneDecksing



    RECQL Antibody Products: 
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    Uscn ELISAs and CLIAs for RECQL

    Protein Domains /
    Families
    for RECQL gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RECQL for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR004589 DNA_helicase_ATP-dep_RecQ
     IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom
     IPR018982 RQC_domain
     IPR014001 Helicase_ATP-bd

    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


    Function
    for RECQL gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    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 plasmid: RECQL 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RECQL (see all 7)
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RECQL (see all 4)
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    In Situ Assay
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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000739DNA strand annealing activity ----
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003678DNA helicase activity IDA11562355
    GO:0004003ATP-dependent DNA helicase activity TAS7961977


    RECQL for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for RECQL:
     Increased S DNA content 

    Animal Models:
         Mouse knock-out Recqltm1Pjb for RECQL
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Recql):
     cellular 

    RECQL for phenotypes           About GeneDecksing


    Pathways & Interactions
    for RECQL gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1DNA Damage
    		DNA Damage1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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



    RECQL for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RECQL

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

    5/47 Interacting proteins for RECQL (P460632, 3 ENSP000003954494) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KPNA2P522922, 3, ENSP000003324554MINT-6733215 MINT-6733231 I2D: score=3 STRING: ENSP00000332455
    KPNA4O006292, 3, ENSP000003343734MINT-6733224 MINT-6733208 I2D: score=3 STRING: ENSP00000334373
    RPA1P276942, 3, ENSP000002547194MINT-4790124 I2D: score=2 STRING: ENSP00000254719
    APLFQ8IW192, ENSP000003070044MINT-4790124 STRING: ENSP00000307004
    BANF1O755313, ENSP000003102754I2D: score=1 STRING: ENSP00000310275
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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


    RECQL for ontologies           About GeneDecksing



    Drugs & Compounds
    for RECQL gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RECQL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RECQL

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

    Search CenterWatch for drugs/clinical trials and news about RECQL / RECQ1 

    Transcripts
    for RECQL gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    8 QIAGEN miScript miRNA 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 plasmid: RECQL 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RECQL (see all 7)
    OriGene shRNA RFP: RECQL
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RECQL
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): RECQL (NM_002907)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RECQL
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RECQL

    Additional cDNA 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 

    24/199 AceView cDNA sequences (see all 199):

    AW304813 BQ882675 CB158017 BM904740 AI677786 N39871 BQ182335 BX391033 
    CA417609 CA394258 AI926871 CA426494 W42459 BQ952333 BU190089 AA721266 
    CA389891 AA873394 BX474644 BM015357 AI589472 AA298951 T94428 AI872221 

    GeneLoc Exon Structure

    5/9 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

    Expression
    for RECQL gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RECQL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTAAGAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See RECQL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RECQL

    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
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    Orthologs
    for RECQL gene

    (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
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for RECQL gene from 9/30 species (see all 30)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 84(a)
    		 1 ↔ 1
    		 AAWZ02038284(6229-11878)
    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) 59.13(n)
    57.89(a)    		   566018  NM_001045096.2  NP_001038561.2 
    honey bee
    (Apis mellifera)    		 Insecta --
    --
    		 --
    		 49(a)
    13(a)
    		 1 ↔ 1
    possible ortholog
    		 GroupUn.48(90354-92320)
    GroupUn.132(8270-11311)
    worm
    (Caenorhabditis elegans)    		 Secernentea K02F3.121 , 3 Protein K02F3.121 42(a)3
    54.33(n)1
    47.68(a)1    		   III(856563-860036)3
    1752461  NM_001027485.11  NP_001022656.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons RECQL21 ATP-dependent DNA helicase Q-like 2 53.01(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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria recQ6
    		 ATP-dependent DNA helicase
    		 27(a)
    		 1 → many
    		 Chromosome(4003887-4005716)


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

    Paralogs
    for RECQL gene

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

    RECQL for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RECQL
    PGOHUM00000242887


    Genomic Variants
    for RECQL gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/704 NCBI SNPs in RECQL are shown (see all 704)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1162321251,2
    		F,--21621365(+) TCAAAC/TTTGAC 3 -- int11Minor allele frequency- T:0.11WA 118
    rs1823476971,2
    		--21621389(+) CCATTA/GCATTT 3 -- int10--------
    rs2011007581,2
    		--21621410(+) ACTCAC/TGACAA 3 -- int10--------
    rs110460751,2
    		C,F,H,--21621419(+) AATAAC/ACTTTT 3 -- int120Minor allele frequency- A:0.13NS EA NA CSA WA EU 3626
    rs1426122581,2
    		C,--21621437(+) AAATAC/TAGGTT 3 -- int10--------
    rs619263241,2
    		C,F,--21621737(+) CAGAAA/GAATCA 3 -- int1 ut312Minor allele frequency- G:0.37NA EU 943
    rs714486051,2
    		C,--21621817(+) ATATTC/AGTGGA 3 -- int1 ut311Minor allele frequency- A:0.50NA 2
    rs73191,2
    		C,F,A,H,--21621891(-) GTTGTA/GTTGGA 3 -- ut3114Minor allele frequency- G:0.36MN NS EA NA 1946
    rs1877487831,2
    		--21621893(+) CAATAC/GAACAC 3 -- ut310--------
    rs1930974381,2
    		--21621942(+) TGTTTG/TAAACA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for RECQL (21621844 - 21654603 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RECQL: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RECQL
    DNA2.0 Custom Variant and Variant Library Synthesis for RECQL

    Disorders / Diseases
    for RECQL gene

    (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.)
    About This Section
    RECQL for disorders           About GeneDecksing

    OMIM gene information: 600537    OMIM disorders: --

    13 diseases for RECQL:    About MalaCards
    rothmund-thomson syndrome    baller-gerold syndrome    xeroderma pigmentosum, group c    xeroderma pigmentosum
    bloom syndrome    werner syndrome    pancreas adenocarcinoma    hepatocellular carcinoma
    pancreatic cancer    adenocarcinoma    pancreatitis    carcinoma
    malaria

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

    6 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: RECQL (7 documents)

    Export disorders for RECQL gene to outside databases

    Publications
    for RECQL gene

    (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)
    About This Section

    PubMed articles for RECQL gene, integrated from 9 sources (see all 72):
    (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. (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. (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. (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. (1994)
    5. 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. (2004)
    6. The Human RecQ helicases, BLM and RECQ1, display distinct DNA substrate specificities. (PubMed id 18448429)1, 9 Popuri V....Vindigni A. (2008)
    7. Human RECQ1 is a DNA damage responsive protein required for genotoxic stress resistance and suppression of sister chromatid exchanges. (PubMed id 18074021)1, 9 Sharma S. and Brosh R.M. (2007)
    8. Biochemical analysis of the DNA unwinding and strand annealing activities catalyzed by human RECQ1. (PubMed id 15899892)1, 9 Sharma S....Brosh R.M. (2005)
    9. Chromosomal localization of the gene encoding the human DNA helicase RECQL and its mouse homologue. (PubMed id 7607686)1, 9 Puranam K.L....Blackshear P.J. (1995)
    10. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)

    External Searches for RECQL gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing RECQL gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5965 HGNC: 9948 AceView: RECQL Ensembl:ENSG00000004700 euGenes: HUgn5965
    ECgene: RECQL H-InvDB: RECQL

    Other Databases showing RECQL gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RECQL gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RECQL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RECQL Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for RECQL gene

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



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    About This Section

     
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