This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] See more...

Aliases for HELB Gene

Aliases for HELB Gene

  • DNA Helicase B 2 3 4 5
  • Helicase (DNA) B 2 3
  • HDHB 3 4
  • EC 3.6.4.12 4
  • HELB 5
  • DHB 3

External Ids for HELB Gene

Previous GeneCards Identifiers for HELB Gene

  • GC12P066087
  • GC00U907484
  • GC12P066413
  • GC12P064982
  • GC12P066696
  • GC12P063747

Summaries for HELB Gene

Entrez Gene Summary for HELB Gene

  • This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

GeneCards Summary for HELB Gene

HELB (DNA Helicase B) is a Protein Coding gene. Diseases associated with HELB include Liver Rhabdomyosarcoma and Xeroderma Pigmentosum, Complementation Group B. Gene Ontology (GO) annotations related to this gene include ATP-dependent DNA helicase activity. An important paralog of this gene is YTHDC2.

UniProtKB/Swiss-Prot Summary for HELB Gene

  • 5'-3' DNA helicase involved in DNA damage response by acting as an inhibitor of DNA end resection (PubMed:25617833, PubMed:26774285). Recruitment to single-stranded DNA (ssDNA) following DNA damage leads to inhibit the nucleases catalyzing resection, such as EXO1, BLM and DNA2, possibly via the 5'-3' ssDNA translocase activity of HELB (PubMed:26774285). As cells approach S phase, DNA end resection is promoted by the nuclear export of HELB following phosphorylation (PubMed:26774285). Acts independently of TP53BP1 (PubMed:26774285). Unwinds duplex DNA with 5'-3' polarity. Has single-strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP as substrates (PubMed:12181327). During S phase, may facilitate cellular recovery from replication stress (PubMed:22194613).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HELB Gene

Genomics for HELB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HELB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J066301 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 633.8 +0.9 908 4 CREB1 PRDM10 REST ZNF629 TFE3 IKZF1 ZNF692 POLR2A JUND FOXA1 HELB ENSG00000256072 HSALNG0092056 GRIP1
GH12J066186 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -112.9 -112896 5.2 CREB1 POLR2A BACH1 LARP7 RELA IKZF2 SP1 EZH2 ZNF600 YY1 IRAK3 lnc-TMBIM4-5 LLPH-DT HELB LLPH ENSG00000256072 TMBIM4 RF00017-1174
GH12J066267 Enhancer 0.8 FANTOM5 ENCODE 27.8 -33.7 -33673 0.4 RELA IKZF2 PKNOX1 EED DPF2 RELB GABPA ELF1 IKZF1 SPI1 MN309572 HELB IRAK3 TMBIM4 PDCL3P7
GH12J066234 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 -67.1 -67092 2 RNF2 CREB1 PRDM10 ZNF512 ZNF692 BACH1 LARP7 ZNF143 RFX1 PATZ1 RBMS1P1 IRAK3 TMBIM4 ENSG00000228144 HELB ENSG00000256072 LLPH LLPH-DT MIR6502
GH12J066279 Enhancer 0.7 Ensembl ENCODE 30.3 -22.5 -22492 2.8 CTCF REST SMC3 RAD21 ZNF654 POLR2A TRIM22 HELB ENSG00000256072 PDCL3P7 RN7SKP166 lnc-HELB-1 IRAK3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

Top Transcription factor binding sites by QIAGEN in the HELB gene promoter:
  • Arnt
  • FOXO1
  • FOXO1a
  • GATA-6
  • HFH-1
  • Ik-3
  • Lmo2
  • Max1
  • POU2F1
  • POU2F1a

Genomic Locations for HELB Gene

Genomic Locations for HELB Gene
chr12:66,302,493-66,343,643
(GRCh38/hg38)
Size:
41,151 bases
Orientation:
Plus strand
chr12:66,696,325-66,737,423
(GRCh37/hg19)
Size:
41,099 bases
Orientation:
Plus strand

Genomic View for HELB Gene

Genes around HELB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HELB Gene

Proteins for HELB Gene

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

    Protein Symbol:
    Q8NG08-HELB_HUMAN
    Recommended name:
    DNA helicase B
    Protein Accession:
    Q8NG08
    Secondary Accessions:
    • A8K4C9
    • Q4G0T2
    • Q9H7L5

    Protein attributes for HELB Gene

    Size:
    1087 amino acids
    Molecular mass:
    123252 Da
    Quaternary structure:
    • Binds to RPA1; this interaction promotes HELB recruitment to chromatin following DNA damage (PubMed:12181327, PubMed:22194613, PubMed:26774285). Interacts with at least two subunits of the DNA polymerase alpha complex (PubMed:12181327): Interacts with CDC45 (PubMed:25933514). Interacts with TOPB1 (PubMed:25933514).
    SequenceCaution:
    • Sequence=BAB15754.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for HELB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HELB Gene

Post-translational modifications for HELB Gene

  • Phosphorylated at Ser-967 by CDK2 during the G1/S transition, resulting in its nuclear export into the cytoplasm (PubMed:15146062, PubMed:26774285). As S phase progresses, its exclusion from the nucleus promotes the activation of long-range resection (PubMed:26774285).
  • Ubiquitination at Lys254
  • Modification sites at PhosphoSitePlus

Other Protein References for HELB Gene

No data available for DME Specific Peptides for HELB Gene

Domains & Families for HELB Gene

Gene Families for HELB Gene

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

Protein Domains for HELB Gene

Suggested Antigen Peptide Sequences for HELB Gene

GenScript: Design optimal peptide antigens:
  • DNA helicase B (HELB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NG08

UniProtKB/Swiss-Prot:

HELB_HUMAN :
  • Belongs to the RecD family. HELB subfamily.
Family:
  • Belongs to the RecD family. HELB subfamily.
genes like me logo Genes that share domains with HELB: view

Function for HELB Gene

Molecular function for HELB Gene

UniProtKB/Swiss-Prot Function:
5'-3' DNA helicase involved in DNA damage response by acting as an inhibitor of DNA end resection (PubMed:25617833, PubMed:26774285). Recruitment to single-stranded DNA (ssDNA) following DNA damage leads to inhibit the nucleases catalyzing resection, such as EXO1, BLM and DNA2, possibly via the 5'-3' ssDNA translocase activity of HELB (PubMed:26774285). As cells approach S phase, DNA end resection is promoted by the nuclear export of HELB following phosphorylation (PubMed:26774285). Acts independently of TP53BP1 (PubMed:26774285). Unwinds duplex DNA with 5'-3' polarity. Has single-strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP as substrates (PubMed:12181327). During S phase, may facilitate cellular recovery from replication stress (PubMed:22194613).
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; Evidence={ECO:0000269|PubMed:12181327, ECO:0000305|PubMed:25617833};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by salt concentration greater than 100 mM. Uses either magnesium or manganese ions to support helicase activity. Binds strongly to single-stranded DNA in the absence of ATP but dissociates readily in the presence of 1 mM ATP.

Enzyme Numbers (IUBMB) for HELB Gene

Phenotypes From GWAS Catalog for HELB Gene

Gene Ontology (GO) - Molecular Function for HELB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003678 DNA helicase activity IEA --
GO:0003723 RNA binding IBA 21873635
GO:0004386 helicase activity IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with HELB: view
genes like me logo Genes that share phenotypes with HELB: view

Animal Models for HELB Gene

MGI Knock Outs for HELB:
  • Helb Helb<tm1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HELB Gene

Localization for HELB Gene

Subcellular locations from UniProtKB/Swiss-Prot for HELB Gene

Nucleus. Cytoplasm. Chromosome. Note=Predominantly nuclear (PubMed:15146062). Phosphorylation at Ser-967 by CDK2 during the G1/S transition results in its nuclear export into the cytoplasm as cells approach and progress through S phase (PubMed:15146062). Following DNA damage, recruited to sites of double-strand breaks by the RPA complex (PubMed:26774285). Recruited to chromatin following DNA damage induced by UV irradiation, or camptothecin or hydroxyurea treatment (PubMed:22194613). {ECO:0000269 PubMed:15146062, ECO:0000269 PubMed:22194613, ECO:0000269 PubMed:26774285}.

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 HELB gene
Compartment Confidence
nucleus 5
plasma membrane 2
mitochondrion 2
cytosol 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HELB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA 21873635
GO:0005634 nucleus IEA,IDA 15146062
GO:0005662 colocalizes_with DNA replication factor A complex IDA 26774285
GO:0005694 chromosome IEA --
GO:0005730 nucleolus IBA 21873635
genes like me logo Genes that share ontologies with HELB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HELB Gene

Pathways & Interactions for HELB Gene

PathCards logo

SuperPathways for HELB Gene

No Data Available

Gene Ontology (GO) - Biological Process for HELB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA 21873635
GO:0006260 DNA replication IMP 12181327
GO:0006261 DNA-dependent DNA replication IEA --
GO:0006269 DNA replication, synthesis of RNA primer IDA 12181327
GO:0006281 DNA repair IEA --
genes like me logo Genes that share ontologies with HELB: view

No data available for Pathways by source and SIGNOR curated interactions for HELB Gene

Drugs & Compounds for HELB Gene

(5) Drugs for HELB Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Manganese Approved Nutra 56
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for HELB 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 HELB: view

Transcripts for HELB Gene

mRNA/cDNA for HELB Gene

2 REFSEQ mRNAs :
7 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 HELB

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

No ASD Table

Relevant External Links for HELB Gene

GeneLoc Exon Structure for
HELB

Expression for HELB Gene

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

mRNA differential expression in normal tissues according to GTEx for HELB Gene

This gene is overexpressed in Whole Blood (x4.9).

Protein differential expression in normal tissues from HIPED for HELB Gene

This gene is overexpressed in Adipocyte (40.9), CD8 Tcells (19.0), and CD4 Tcells (9.1).

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



Protein tissue co-expression partners for HELB Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for HELB Gene:

Hs.505941

mRNA Expression by UniProt/SwissProt for HELB Gene:

Q8NG08-HELB_HUMAN
Tissue specificity: Highly expressed in testis and thymus and weakly in liver, spleen, kidney and brain.

Evidence on tissue expression from TISSUES for HELB Gene

  • Spleen(4.4)
  • Nervous system(2.3)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with HELB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for HELB Gene

Orthologs for HELB Gene

This gene was present in the common ancestor of chordates.

Orthologs for HELB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HELB 30 31
  • 99.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HELB 30 31
  • 82.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HELB 30 31
  • 78.39 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Helb 30 17 31
  • 73.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Helb 30
  • 73.05 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 70 (a)
OneToMany
-- 31
  • 52 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia HELB 31
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HELB 30 31
  • 59.08 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HELB 31
  • 43 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia helb 30
  • 53.87 (n)
Zebrafish
(Danio rerio)
Actinopterygii helb 30 31
  • 48.79 (n)
OneToOne
Species where no ortholog for HELB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for HELB Gene

ENSEMBL:
Gene Tree for HELB (if available)
TreeFam:
Gene Tree for HELB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HELB: view image

Paralogs for HELB Gene

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

Variants for HELB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HELB Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
768566 Benign: not provided 66,331,486(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
775311 Benign: not provided 66,310,388(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
782563 Benign: not provided 66,315,325(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
785417 Benign: not provided 66,309,727(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
790665 Benign: not provided 66,331,521(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for HELB Gene

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

Variant ID Type Subtype PubMed ID
esv3629801 CNV gain 21293372
esv3892212 CNV loss 25118596

Variation tolerance for HELB Gene

Residual Variation Intolerance Score: 90.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.11; 95.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HELB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HELB Gene

MalaCards: The human disease database

(2) MalaCards diseases for HELB Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
liver rhabdomyosarcoma
  • rhabdomyosarcoma of liver
xeroderma pigmentosum, complementation group b
  • xpb
- elite association - COSMIC cancer census association via MalaCards
Search HELB in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with HELB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HELB Gene

Publications for HELB Gene

  1. A dominant-negative mutant of human DNA helicase B blocks the onset of chromosomal DNA replication. (PMID: 12181327) Taneja P … Fanning E (The Journal of biological chemistry 2002) 2 3 4
  2. HELB Is a Feedback Inhibitor of DNA End Resection. (PMID: 26774285) Tkáč J … Durocher D (Molecular cell 2016) 3 4
  3. Human DNA helicase B interacts with the replication initiation protein Cdc45 and facilitates Cdc45 binding onto chromatin. (PMID: 25933514) Gerhardt J … Fanning E (Experimental cell research 2015) 3 4
  4. Human DNA helicase B functions in cellular homologous recombination and stimulates Rad51-mediated 5'-3' heteroduplex extension in vitro. (PMID: 25617833) Liu H … Fanning E (PloS one 2015) 3 4
  5. Human DNA helicase B (HDHB) binds to replication protein A and facilitates cellular recovery from replication stress. (PMID: 22194613) Guler GD … Fanning E (The Journal of biological chemistry 2012) 3 4

Products for HELB Gene

Sources for HELB Gene