Human Gene RECQL (uc001rex.3) Description and Page Index
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=22.214.171.124; 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";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): RECQL CDC HuGE Published Literature: RECQL
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
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.