Description: Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA. RefSeq Summary (NM_032941): 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. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]. Transcript (Including UTRs) Position: hg19 chr12:21,621,844-21,654,603 Size: 32,760 Total Exon Count: 16 Strand: - Coding Region Position: hg19 chr12:21,623,128-21,652,504 Size: 29,377 Coding Exon Count: 14
ID:RECQ1_HUMAN DESCRIPTION: RecName: Full=ATP-dependent DNA helicase Q1; EC=3.6.4.12; AltName: Full=DNA helicase, RecQ-like type 1; Short=RecQ1; AltName: Full=DNA-dependent ATPase Q1; AltName: Full=RecQ protein-like 1; 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. SUBUNIT: Interacts with EXO1 and MLH1. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: High expression in heart, lung, skeletal muscle and kidney, low expression in brain. SIMILARITY: Belongs to the helicase family. RecQ subfamily. SIMILARITY: Contains 1 helicase ATP-binding domain. SIMILARITY: Contains 1 helicase C-terminal domain. SEQUENCE CAUTION: Sequence=AAA60261.1; Type=Frameshift; Positions=615, 649; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RECQLID283.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P46063
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000724 double-strand break repair via homologous recombination GO:0000733 DNA strand renaturation GO:0006281 DNA repair GO:0006310 DNA recombination GO:0032508 DNA duplex unwinding
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
