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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:21,621,844-21,654,603)mRNA (may differ from genome)Protein (649 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  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";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RECQL
CDC HuGE Published Literature: RECQL

-  MalaCards Disease Associations
  MalaCards Gene Search: RECQL
Diseases sorted by gene-association score: werner syndrome (21), rothmund-thomson syndrome (19), bloom syndrome (8), rapadilino syndrome (7), baller-gerold syndrome (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 33.58 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 429.40 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -124.60348-0.358 Picture PostScript Text
3' UTR -286.001284-0.223 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011545 - DNA/RNA_helicase_DEAD/DEAH_N
IPR004589 - DNA_helicase_ATP-dep_RecQ
IPR014001 - Helicase_ATP-bd
IPR001650 - Helicase_C
IPR018982 - RQC_domain

Pfam Domains:
PF00270 - DEAD/DEAH box helicase
PF00271 - Helicase conserved C-terminal domain
PF04851 - Type III restriction enzyme, res subunit
PF16124 - RecQ zinc-binding

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2V1X
- X-ray MuPIT

2WWY
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P46063
FrontTopSide
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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003678 DNA helicase activity
GO:0004003 ATP-dependent DNA helicase activity
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008026 ATP-dependent helicase activity
GO:0009378 four-way junction helicase activity
GO:0016787 hydrolase activity
GO:0036310 annealing helicase activity
GO:0043140 ATP-dependent 3'-5' DNA helicase activity

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

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  D37984 - Homo sapiens mRNA for DNA helicase Q1, partial cds.
AY157499 - Homo sapiens truncated helicase isoform (RECQL) mRNA, complete cds.
L36140 - Homo sapiens (clone 1311) DNA helicase (RECQL) mRNA, complete cds.
AK291627 - Homo sapiens cDNA FLJ76305 complete cds, highly similar to Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 1, mRNA.
BC001052 - Homo sapiens RecQ protein-like (DNA helicase Q1-like), mRNA (cDNA clone MGC:1648 IMAGE:2823112), complete cds.
BT007119 - Homo sapiens RecQ protein-like (DNA helicase Q1-like) mRNA, complete cds.
AB527666 - Synthetic construct DNA, clone: pF1KB6167, Homo sapiens RECQL gene for RecQ protein-like, without stop codon, in Flexi system.
DQ571060 - Homo sapiens piRNA piR-31172, complete sequence.
JD359344 - Sequence 340368 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K6G2, NM_032941, NP_116559, P46063, RECQ1, RECQ1_HUMAN, RECQL1
UCSC ID: uc001rex.3
RefSeq Accession: NM_032941
Protein: P46063 (aka RECQ1_HUMAN or RCQ1_HUMAN)
CCDS: CCDS31756.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_032941.2
exon count: 16CDS single in 3' UTR: no RNA size: 3598
ORF size: 1950CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4079.00frame shift in genome: no % Coverage: 99.56
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.