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FLASH GENE
Symbol RECQL contributors: mct/pgu - updated : 18-11-2015
HGNC name RecQ protein-like (DNA helicase Q1-like)
HGNC id 9948
Location 12p12.1      Physical location : 21.621.844 - 21.654.603
Synonym name
  • DNA helicase Q1-like
  • ATP-dependent DNA helicase Q1
  • Synonym symbol(s) RECQL1, RECQ1
    DNA
    TYPE functioning gene
    STRUCTURE 32.76 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    LOC341473 12p12.3 similar to T-complex protein 1, alpha subunit (TCP-1-alpha) (CCT-alpha) PDE3A 12p12 phosphodiesterase 3A, cGMP-inhibited SLCO1C1 12p12.3 solute carrier organic anion transporter family, member 1C1 SLCO1B3 12p12 solute carrier organic anion transporter family, member 1B3 LST-3 12p12.3 liver-specific organic anion transporter 3 SLCO1B1 12p solute carrier organic anion transporter family, member 1B1 SLCO1A2 12p12 solute carrier organic anion transporter family, member 1A2 IAPP 12p12.3-p12.2 islet amyloid polypeptide FLJ22028 12p12.3 hypothetical protein FLJ22028 RECQL 12p12-p11 RecQ protein-like (DNA helicase Q1-like) CGI-141 12p12.3 CGI-141 protein MGC10946 12p12.3 hypothetical protein MGC10946 GYS2 12p12.2 glycogen synthase 2 (liver) LDHB 12p12.2-p12.1 lactate dehydrogenase B KCNJ8 12p11.23 potassium inwardly-rectifying channel, subfamily J, member 8 ABCC9 12p12.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 CMAS 12p13.2 cytidine monophosphate N-acetylneuraminic acid synthetase SIAT8A 12p12.3-p12.2 sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase) KIAA0528 12p12.2 sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase) EKI1 12p12.3 sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 3795 - 649 - 2002 12419324
    16 - 3598 - 649 - 2002 12419324
    - - - - 105 - 2002 12419324
    having the first 53 N-terminal amino acids identical to the known sequence of RECQL protein and followed by 52 amino acids introduced by in-frame premature stop codon
    15 - 2866 - 537 - 2002 12419324
    has the same sequence as the published human RECQL helicase, except the first 112 amino acids at the N-terminal end were absent
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
    Reproductivemale systemtestis  highly
    Respiratoryrespiratory tracttrachea  highly
    cell lineage
    cell lines isolated from HeLa cells
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal region (AAs 1-56) necessary both for protein oligomerization and for this Holliday junction disruption activity
  • seven RecQ helicase domains
  • RecQ-specific zinc-binding domain
  • N-terminal winged-helix (WH) domain, with prominent beta-hairpin essential for DNA strand separation, which may be analogous to DNA strand-separation features of other DNA helicases
  • HOMOLOGY
    Homologene
    FAMILY RecQl family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome,telomere
    text
  • RECQL and FEN1 were constitutively present at telomeres and their binding to the telomeric chromatin was enhanced following DNA damage
  • basic FUNCTION
  • DNA helicase with DNA dependent ATPase activity, putatively involved in DNA repair and/or chromosome segregation
  • playing a role in the maintenance of genome stability that is distinct from that of BLM
  • playing an important role in preserving genomic integrity, and having cellular roles in DNA repair, recombination, and replication
  • playing a role in a pathway involving mismatch repair factors, and regulation of genetic recombination
  • having a unique cellular role in the DNA repair processes required for genomic integrity
  • catalyzes unidirectional three-stranded branch migration with a 3' --> 5' polarity
  • involved in maintaining chromosome stability
  • RECQL and WRN proteins are RecQ DNA helicases that participate in suppression of DNA hyper-recombination and repair
  • role of RECQL in replication fork stabilization and role in the DNA damage response to maintain genomic stability
  • crucial role for RECQL at naturally occurring fork stalling sites, implicating RECQL in mechanisms underlying common fragile site instability in cancer
  • may participate in the same pathway as WRN, probably in telomere replication
  • novel function of RECQL in gene regulation, indicating that RECQL contributes to tumor development and progression, in part, by regulating the expression of key genes that promote cancer cell migration, invasion and metastasis
  • RECQL helicases and PARP1 are involved in the control of DNA repair, telomere maintenance, and replicative stress
  • CELLULAR PROCESS nucleotide, repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • stimulates the incision activity of human exonuclease 1 (EXO1)
  • the mismatch repair recognition complex MSH2/6 stimulates RECQ1 helicase activity
  • PARP1 stabilizes forks in the regressed state by limiting their restart by RECQL
  • interaction of RECQL with XRCC5/XRCC6 and role of the human RecQ helicase in double-strand break repair through nonhomologous end-joining
  • cooperative function of RECQLs and PARP1 represents an important factor for maintaining genome integrity
  • RECQL limits DNA2 activity by preventing extensive nascent strand degradation
  • conserved collaboration of RECQL with FEN1, suggesting both overlapping and specialized roles of RECQL in the processing of DNA structure intermediates proposed to arise during replication, repair and recombination
  • cell & other
    REGULATION
    Other upregulated at the G2/M stage of the cell cycle
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to pancreatic cancer with reduced survival
    Variant & Polymorphism SNP increasing the risk of pancreatic cancer with reduced survival
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhead and neck 
    RECQL and WRN proteins are potential therapeutic targets in head and neck squamous cell carcinoma
    ANIMAL & CELL MODELS