Human Gene HELQ (uc003hom.3) Description and Page Index
  Description: Homo sapiens helicase, POLQ-like (HELQ), mRNA.
RefSeq Summary (NM_133636): HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008].
Transcript (Including UTRs)
   Position: hg19 chr4:84,328,499-84,377,025 Size: 48,527 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr4:84,328,606-84,376,846 Size: 48,241 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr4:84,328,499-84,377,025)mRNA (may differ from genome)Protein (1101 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Helicase POLQ-like; EC=; AltName: Full=Mus308-like helicase; AltName: Full=POLQ-like helicase;
FUNCTION: DNA-dependent ATPase and 5' to 3' DNA helicase.
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
SUBUNIT: Hexamer.
MISCELLANEOUS: ATPase activity is strongly stimulated by single- stranded DNA. Presence of ATP and Mg cofactor are required for helicase activity allowing to unwind duplex oligonucleotides up to 60-70-mer. This helicase activity is stimulated by replication protein RPA that binds to unwound regions and inhibits re- annealing.
SIMILARITY: Belongs to the helicase family. SKI2 subfamily.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HELQ
CDC HuGE Published Literature: HELQ
Positive Disease Associations: Head and Neck Neoplasms , Menopause
Related Studies:
  1. Head and Neck Neoplasms
    James D McKay et al. PLoS genetics 2011, A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium., PLoS genetics. [PubMed 21437268]
  2. Menopause
    Lisette Stolk et al. Nature genetics 2012, Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways., Nature genetics. [PubMed 22267201]

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.14 RPKM in Adrenal Gland
Total median expression: 194.20 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 -61.30179-0.342 Picture PostScript Text
3' UTR -13.80107-0.129 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
IPR014001 - Helicase_ATP-bd
IPR001650 - Helicase_C

Pfam Domains:
PF00270 - DEAD/DEAH box helicase
PF00271 - Helicase conserved C-terminal domain

SCOP Domains:
47794 - Rad51 N-terminal domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q8TDG4
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 orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  Protein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0004004 ATP-dependent RNA helicase activity
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016787 hydrolase activity

Biological Process:
GO:0000724 double-strand break repair via homologous recombination
GO:0006281 DNA repair
GO:0006974 cellular response to DNA damage stimulus
GO:0010501 RNA secondary structure unwinding

Cellular Component:
GO:0005730 nucleolus
GO:0005737 cytoplasm

-  Descriptions from all associated GenBank mRNAs
  BC111502 - Homo sapiens DNA helicase HEL308, mRNA (cDNA clone IMAGE:5531568).
AF436845 - Homo sapiens DNA helicase HEL308 (HEL308) mRNA, complete cds.
AK308395 - Homo sapiens cDNA, FLJ98343.
AL512702 - Homo sapiens mRNA; cDNA DKFZp667D226 (from clone DKFZp667D226).
JD165162 - Sequence 146186 from Patent EP1572962.
AK312725 - Homo sapiens cDNA, FLJ93131.
BC141524 - Synthetic construct Homo sapiens clone IMAGE:100014498, MGC:175293 helicase, POLQ-like (HELQ) mRNA, encodes complete protein.
KM576717 - Homo sapiens clone FAM175A-HELQ_F8-H3 mRNA sequence.
BC015428 - Homo sapiens helicase, POLQ-like, mRNA (cDNA clone IMAGE:4399431), complete cds.
AK126255 - Homo sapiens cDNA FLJ44267 fis, clone TLIVE2003970.
AK128665 - Homo sapiens cDNA FLJ46825 fis, clone UTERU2000300.
BC011863 - Homo sapiens DNA helicase HEL308, mRNA (cDNA clone IMAGE:4328700), containing frame-shift errors.
BC095473 - Homo sapiens helicase, POLQ-like, mRNA (cDNA clone IMAGE:30554745), complete cds.
BC065814 - Homo sapiens DNA helicase HEL308, mRNA (cDNA clone IMAGE:6503527), containing frame-shift errors.
KJ903630 - Synthetic construct Homo sapiens clone ccsbBroadEn_13024 HELQ gene, encodes complete protein.
KU178845 - Homo sapiens helicase POLQ-like isoform 1 (HELQ) mRNA, partial cds.
KU178846 - Homo sapiens helicase POLQ-like isoform 2 (HELQ) mRNA, complete cds, alternatively spliced.

-  Other Names for This Gene
  Alternate Gene Symbols: HEL308, HELQ_HUMAN, NM_133636, NP_598375, Q05DF9, Q502W9, Q659B8, Q6ZQX4, Q6ZTS4, Q8TDG4, Q96EX7
UCSC ID: uc003hom.3
RefSeq Accession: NM_133636
Protein: Q8TDG4 (aka HELQ_HUMAN)
CCDS: CCDS3603.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_133636.2
exon count: 18CDS single in 3' UTR: no RNA size: 3596
ORF size: 3306CDS single in intron: no Alignment % ID: 99.97
txCdsPredict score: 6710.00frame shift in genome: no % Coverage: 99.89
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
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.