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HELQ Gene(Protein Coding)

Helicase, POLQ-Like

GCID:
GC04M083407
GIFtS:
48
Genes Participants
UDN Logo

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 61

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).

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

Products:

  1. Regulatory Element

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
GH04G083454 1.2 ENCODE 24.2 -0.3 -262 3.8 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 HELQ ABRAXAS1 MRPS18C HPSE GPAT3 SLC25A14P1
GH04G083535 1.3 ENCODE dbSUPER 18.1 -80.6 -80561 2.8 PKNOX1 CREB3L1 SIN3A DMAP1 YY1 ZNF548 FOS DEK ZNF263 SP3 HELQ MRPS18C GPAT3 GC04M083639 ENSG00000201633
GH04G083033 1.2 ENCODE 15.8 +420.6 420596 2.7 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 ZNF610 ABRAXAS1 HELQ THAP9-AS1 GC04P083035 COPS4
GH04G083484 1.1 ENCODE 14.1 -29.3 -29265 2.3 HDGF CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 HELQ MRPS18C GPAT3 ABRAXAS1 SLC25A14P1 RPL30P5
GH04G083211 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.4 +243.4 243382 2.6 TBP TBL1XR1 ARID3A ELK1 ZSCAN29 RELB ETV6 IKZF2 CHD2 SRF HELQ PLAC8 LIN54 GC04M083225
- 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 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC TBX21

Transcription factor binding sites by QIAGEN in the HELQ gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for HELQ Gene

Proteins for HELQ Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for HELQ Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for HELQ Gene

Q8TDG4:
  • QMIGRAGR
  • NLPARRV

Post-translational modifications for HELQ Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HELQ Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for HELQ Gene

Gene Families for HELQ Gene

HGNC:

Protein Domains for HELQ Gene

InterPro:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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

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

miRNA for HELQ Gene

miRTarBase miRNAs that target HELQ

Inhibitory RNA Products

Flow Cytometry 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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for HELQ Gene

Pathways & Interactions for HELQ Gene

SuperPathways for HELQ Gene

PathCards logo More details on SuperPathways for HELQ
SuperPathway Contained pathways
1 DNA Damage
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

Products:

  1. Drug

(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
Adenosine triphosphate Approved Nutra 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for HELQ Gene

(15) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(84) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HELQ Gene

Helicase, POLQ-like:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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

Products:

  1. Primer

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

mRNA expression in normal human tissues for HELQ Gene
mRNA expression by BioGPS for HELQ GenemRNA expression by GTEx 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 34 35
  • 99.36 (n)
dog
(Canis familiaris)
 Mammalia HELQ 34 35
  • 88.44 (n)
cow
(Bos Taurus)
 Mammalia HELQ 34
  • 86.27 (n)
-- 35
  • 72 (a)
 ManyToMany
mouse
(Mus musculus)
 Mammalia Helq 34 16 35
  • 79.29 (n)
rat
(Rattus norvegicus)
 Mammalia Helq 34
  • 78.98 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia HELQ 35
  • 74 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia HELQ 35
  • 72 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves HELQ 34 35
  • 69.72 (n)
lizard
(Anolis carolinensis)
 Reptilia HELQ 35
  • 62 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia helq 34
  • 66.77 (n)
zebrafish
(Danio rerio)
 Actinopterygii helq 34 35
  • 61.62 (n)
Dr.16890 34
fruit fly
(Drosophila melanogaster)
 Insecta mus301 34 35
  • 50.48 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP012297 34
  • 48.26 (n)
worm
(Caenorhabditis elegans)
 Secernentea helq-1 34 35
  • 49.91 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes BRR2 35
  • 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 R.D. (J. Biol. Chem. 2002) 2 3 4 64
  2. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (PMID: 22267201) Stolk L. … Lunetta K.L. (Nat. Genet. 2012) 3 46 64
  3. A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. (PMID: 21437268) McKay J.D. … Brennan P. (PLoS Genet. 2011) 3 46 64
  4. DNA polymerase POLN participates in cross-link repair and homologous recombination. (PMID: 19995904) Moldovan G.L. … D'Andrea A.D. (Mol. Cell. Biol. 2010) 3 4 64
  5. HELQ reverses the malignant phenotype of osteosarcoma cells via CHK1-RAD51 signaling pathway. (PMID: 28000895) Liu D.N. … Xia H. (Oncol. Rep. 2017) 3 64

Products for HELQ Gene

Sources for HELQ Gene

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