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Aliases for HELQ Gene

Aliases for HELQ Gene

  • Helicase, POLQ Like 2 3 5
  • Mus308-Like Helicase 3 4
  • POLQ-Like Helicase 3 4
  • HEL308 3 4
  • DNA Helicase HEL308 3
  • Helicase POLQ-Like 3
  • EC 3.6.4.12 4
  • EC 3.6.1 58

External Ids for HELQ Gene

Previous GeneCards Identifiers for HELQ Gene

  • GC04M084548
  • GC04M084328
  • GC04M080071

Summaries for HELQ Gene

Entrez Gene Summary for HELQ Gene

  • HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]

GeneCards Summary for HELQ Gene

HELQ (Helicase, POLQ Like) is a Protein Coding gene. Among its related pathways are DNA Damage. GO annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is POLQ.

UniProtKB/Swiss-Prot for HELQ Gene

  • Single-stranded DNA-dependent ATPase and 5 to 3 DNA helicase (PubMed:11751861). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates in FANCD2-mediated repair. Forms a complex with POLN polymerase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links (PubMed:19995904).

Additional gene information for HELQ Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HELQ Gene

Genomics for HELQ Gene

Regulatory Elements for HELQ Gene

Enhancers for HELQ Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H083254 1.5 Ensembl ENCODE dbSUPER 23.8 +197.8 197797 6 PKNOX1 FOXA2 FEZF1 ZNF143 ATF7 FOS RUNX3 TSHZ1 REST PPARG HNRNPD HNRNPDL HELQ SEC31A ABRAXAS1 LOC391674 THAP9-AS1 PLAC8 PIR52005 GC04P083274
GH04H083033 1.2 ENCODE 25.8 +420.6 420596 2 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 HNRNPD HELQ THAP9-AS1 ABRAXAS1 HNRNPDL SEC31A COPS4 GC04P083035
GH04H083454 1.2 ENCODE 24.2 -0.3 -262 3 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 HELQ ABRAXAS1 MRPS18C SEC31A HPSE GPAT3 SLC25A14P1
GH04H082898 1.4 ENCODE dbSUPER 20.1 +555.5 555470 4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 THAP9-AS1 HNRNPD HELQ ABRAXAS1 THAP9 GC04P082899
GH04H083535 1.3 ENCODE dbSUPER 18.1 -80.6 -80561 2 PKNOX1 ATF1 SIN3A DMAP1 YY1 ZNF121 GLIS2 FOS ZNF548 ATF7 HELQ THAP9-AS1 MRPS18C SEC31A GPAT3 ENSG00000201633 GC04M083639
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HELQ on UCSC Golden Path with GeneCards custom track

Promoters for HELQ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000170109 183 2601 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for HELQ Gene

Chromosome:
4
Start:
83,407,343 bp from pter
End:
83,455,883 bp from pter
Size:
48,541 bases
Orientation:
Minus strand

Genomic View for HELQ Gene

Genes around HELQ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HELQ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HELQ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HELQ Gene

Proteins for HELQ Gene

  • Protein details for HELQ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDG4-HELQ_HUMAN
    Recommended name:
    Helicase POLQ-like
    Protein Accession:
    Q8TDG4
    Secondary Accessions:
    • Q05DF9
    • Q502W9
    • Q659B8
    • Q6ZQX4
    • Q6ZTS4
    • Q96EX7

    Protein attributes for HELQ Gene

    Size:
    1101 amino acids
    Molecular mass:
    124131 Da
    Quaternary structure:
    • Hexamer (PubMed:11751861). Interacts with POLN (PubMed:19995904).
    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.

    Alternative splice isoforms for HELQ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HELQ Gene

Selected DME Specific Peptides for HELQ Gene

Q8TDG4:
  • QMIGRAGR
  • NLPARRV

Post-translational modifications for HELQ Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for HELQ Gene

Gene Families for HELQ Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for HELQ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TDG4

UniProtKB/Swiss-Prot:

HELQ_HUMAN :
  • Belongs to the helicase family. SKI2 subfamily.
Family:
  • Belongs to the helicase family. SKI2 subfamily.
genes like me logo Genes that share domains with HELQ: view

Function for HELQ Gene

Molecular function for HELQ Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Single-stranded DNA-dependent ATPase and 5 to 3 DNA helicase (PubMed:11751861). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates in FANCD2-mediated repair. Forms a complex with POLN polymerase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links (PubMed:19995904).

Enzyme Numbers (IUBMB) for HELQ Gene

Phenotypes From GWAS Catalog for HELQ Gene

Gene Ontology (GO) - Molecular Function for HELQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0004004 ATP-dependent RNA helicase activity IBA --
GO:0004386 helicase activity IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with HELQ: view
genes like me logo Genes that share phenotypes with HELQ: view

Animal Model Products

CRISPR Products

miRNA for HELQ Gene

miRTarBase miRNAs that target HELQ

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HELQ Gene

Localization for HELQ Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HELQ gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HELQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IBA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with HELQ: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HELQ Gene

Pathways & Interactions for HELQ Gene

SuperPathway Contained pathways
1 DNA Damage
genes like me logo Genes that share pathways with HELQ: view

Pathways by source for HELQ Gene

1 Cell Signaling Technology pathway for HELQ Gene

Gene Ontology (GO) - Biological Process for HELQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IMP 19995904
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0010501 RNA secondary structure unwinding IBA --
genes like me logo Genes that share ontologies with HELQ: view

No data available for SIGNOR curated interactions for HELQ Gene

Drugs & Compounds for HELQ Gene

(3) Drugs for HELQ Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Nutra Agonist 0

(1) Additional Compounds for HELQ Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with HELQ: view

Transcripts for HELQ Gene

Unigene Clusters for HELQ Gene

Helicase, POLQ-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for HELQ Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^
SP1: - - - -
SP2:
SP3: - - - -
SP4: - -
SP5:

ExUns: 18 ^ 19
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for HELQ Gene

GeneLoc Exon Structure for
HELQ
ECgene alternative splicing isoforms for
HELQ

Expression for HELQ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HELQ Gene

Protein differential expression in normal tissues from HIPED for HELQ Gene

This gene is overexpressed in Lung (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HELQ Gene



Protein tissue co-expression partners for HELQ Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HELQ Gene:

HELQ

SOURCE GeneReport for Unigene cluster for HELQ Gene:

Hs.480101

Evidence on tissue expression from TISSUES for HELQ Gene

  • Lymph node(4.2)
  • Intestine(4.1)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with HELQ: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HELQ Gene

Orthologs for HELQ Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HELQ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HELQ 33 34
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia HELQ 33 34
  • 88.44 (n)
cow
(Bos Taurus)
Mammalia HELQ 33
  • 86.27 (n)
-- 34
  • 72 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Helq 33 16 34
  • 79.29 (n)
rat
(Rattus norvegicus)
Mammalia Helq 33
  • 78.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HELQ 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HELQ 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves HELQ 33 34
  • 69.72 (n)
lizard
(Anolis carolinensis)
Reptilia HELQ 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia helq 33
  • 66.77 (n)
zebrafish
(Danio rerio)
Actinopterygii helq 33 34
  • 61.62 (n)
Dr.16890 33
fruit fly
(Drosophila melanogaster)
Insecta mus301 33 34
  • 50.48 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012297 33
  • 48.26 (n)
worm
(Caenorhabditis elegans)
Secernentea helq-1 33 34
  • 49.91 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BRR2 34
  • 9 (a)
OneToMany
Species where no ortholog for HELQ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HELQ Gene

ENSEMBL:
Gene Tree for HELQ (if available)
TreeFam:
Gene Tree for HELQ (if available)

Paralogs for HELQ Gene

Paralogs for HELQ Gene

genes like me logo Genes that share paralogs with HELQ: view

Variants for HELQ Gene

Sequence variations from dbSNP and Humsavar for HELQ Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_042643 A breast cancer sample
rs1000076451 -- 83,451,260(+) TCCCT(C/T)TTTAT intron-variant
rs10001425 -- 83,420,343(+) ATCAA(A/G)AGAAT intron-variant
rs1000174070 -- 83,433,321(+) TAAAA(A/G)TCCTA intron-variant
rs1000205211 -- 83,433,008(+) TAAAT(C/T)GTGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HELQ Gene

Variant ID Type Subtype PubMed ID
esv2675432 CNV deletion 23128226
esv3601196 CNV loss 21293372
esv3601197 CNV loss 21293372
esv3893971 CNV gain 25118596
nsv509909 OTHER sequence alteration 20534489
nsv829992 CNV loss 17160897
nsv829994 CNV loss 17160897

Variation tolerance for HELQ Gene

Residual Variation Intolerance Score: 71.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.13; 80.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HELQ Gene

Human Gene Mutation Database (HGMD)
HELQ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HELQ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HELQ Gene

Disorders for HELQ Gene

Relevant External Links for HELQ

Genetic Association Database (GAD)
HELQ
Human Genome Epidemiology (HuGE) Navigator
HELQ
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HELQ

No disorders were found for HELQ Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HELQ Gene

Publications for HELQ Gene

  1. A human DNA helicase homologous to the DNA cross-link sensitivity protein Mus308. (PMID: 11751861) Marini F … Wood RD (The Journal of biological chemistry 2002) 2 3 4 60
  2. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (PMID: 22267201) Stolk L … Lunetta KL (Nature genetics 2012) 3 45 60
  3. A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. (PMID: 21437268) McKay JD … Brennan P (PLoS genetics 2011) 3 45 60
  4. DNA polymerase POLN participates in cross-link repair and homologous recombination. (PMID: 19995904) Moldovan GL … D'Andrea AD (Molecular and cellular biology 2010) 3 4 60
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 60

Products for HELQ Gene

Sources for HELQ Gene

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