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

Aliases for HELQ Gene

Aliases for HELQ Gene

  • Helicase, POLQ Like 2 3 5
  • Mus308-Like Helicase 3 4
  • Helicase POLQ-Like 3 4
  • POLQ-Like Helicase 3 4
  • HEL308 3 4
  • DNA Helicase HEL308 3
  • EC 3.6.4.12 4
  • EC 3.6.1 51
  • Hel308 2
  • HELQ 5

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. Diseases associated with HELQ include Fanconi Anemia, Complementation Group A. Among its related pathways are DNA Damage. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is POLQ.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for HELQ Gene

Genomics for HELQ Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HELQ Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HELQ on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HELQ

Top Transcription factor binding sites by QIAGEN in the HELQ gene promoter:
  • AhR
  • AML1a
  • Arnt
  • FOXF2
  • GATA-1
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • p53
  • Pax-6

Genomic Locations for HELQ Gene

Genomic Locations for HELQ Gene
chr4:83,407,343-83,455,883
(GRCh38/hg38)
Size:
48,541 bases
Orientation:
Minus strand
chr4:84,328,496-84,377,025
(GRCh37/hg19)
Size:
48,530 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

  • Glycosylation at Asn208
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for HELQ Gene

Domains & Families for HELQ Gene

Gene Families for HELQ Gene

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

Protein Domains for HELQ Gene

Suggested Antigen Peptide Sequences for HELQ Gene

GenScript: Design optimal peptide antigens:
  • POLQ-like helicase (HELQ_HUMAN)

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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;.

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:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003678 DNA helicase activity IEA --
GO:0004386 helicase activity 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HELQ

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 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 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:0005634 nucleus IBA 21873635
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

PathCards logo

SuperPathways 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:0006364 rRNA processing IBA 21873635
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0030490 maturation of SSU-rRNA 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 Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with HELQ: view

Transcripts for HELQ Gene

mRNA/cDNA for HELQ Gene

6 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HELQ

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

Expression for HELQ Gene

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



Protein tissue co-expression partners for HELQ Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HELQ

SOURCE GeneReport for Unigene cluster for HELQ Gene:

Hs.480101

Evidence on tissue expression from TISSUES for HELQ Gene

  • Intestine(4.3)
  • Lymph node(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with HELQ: view

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 30 31
  • 99.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HELQ 30 31
  • 88.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HELQ 30
  • 86.27 (n)
-- 31
  • 72 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Helq 30 17 31
  • 79.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Helq 30
  • 78.98 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia HELQ 31
  • 74 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HELQ 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HELQ 30 31
  • 69.72 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HELQ 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia helq 30
  • 66.77 (n)
Zebrafish
(Danio rerio)
Actinopterygii helq 30 31
  • 61.62 (n)
OneToOne
Dr.16890 30
Fruit Fly
(Drosophila melanogaster)
Insecta mus301 30 31
  • 50.48 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012297 30
  • 48.26 (n)
Worm
(Caenorhabditis elegans)
Secernentea helq-1 30 31
  • 49.91 (n)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BRR2 31
  • 9 (a)
OneToMany
Species where no ortholog for HELQ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for HELQ: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HELQ Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
780111 Benign: not provided 83,455,588(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
782246 Benign: not provided 83,455,641(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
VAR_042643 A breast cancer sample p.Asp565Asn
rs17006794 - p.Val1094Met
rs17006837 - p.Leu235Pro

Additional dbSNP identifiers (rs#s) for HELQ Gene

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)

Additional Variant Information for HELQ Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HELQ Gene

MalaCards: The human disease database

(1) MalaCards diseases for HELQ Gene - From: DISEASES

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards
Search HELQ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HELQ

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HELQ: view

No data available for 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
  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 41
  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 41
  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
  5. PELI1 Selectively Targets Kinase-Active RIP3 for Ubiquitylation-Dependent Proteasomal Degradation. (PMID: 29883609) Choi SW … Kim YS (Molecular cell 2018) 3

Products for HELQ Gene

Sources for HELQ Gene