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Aliases for HELB Gene

Aliases for HELB Gene

  • DNA Helicase B 2 3
  • Helicase (DNA) B 2 3 5
  • HDHB 3 4
  • EC 3.6.4.12 4
  • 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 Supraglottis Cancer. GO annotations related to this gene include poly(A) RNA binding and ATP-dependent DNA helicase activity.

UniProtKB/Swiss-Prot 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HELB Gene

Genomics for HELB Gene

Regulatory Elements for HELB Gene

Enhancers for HELB 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around HELB on UCSC Golden Path with GeneCards custom track

Promoters for HELB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HELB on UCSC Golden Path with GeneCards custom track

Genomic Location for HELB Gene

Chromosome:
12
Start:
66,302,545 bp from pter
End:
66,347,645 bp from pter
Size:
45,101 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=Translation N-terminally shortened.; 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 Lys 254
  • 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

Protein Domains for HELB Gene

Suggested Antigen Peptide Sequences for HELB Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for HELB Gene

Function for HELB Gene

Molecular function for HELB Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
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.
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).

Enzyme Numbers (IUBMB) for HELB Gene

Gene Ontology (GO) - Molecular Function for HELB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004003 ATP-dependent DNA helicase activity IEA --
GO:0004004 ATP-dependent RNA helicase activity IBA --
GO:0005524 ATP binding IEA --
GO:0017116 single-stranded DNA-dependent ATP-dependent DNA helicase activity IDA 12181327
GO:0043141 ATP-dependent 5-3 DNA helicase activity IDA 12181327
genes like me logo Genes that share ontologies with HELB: view

Phenotypes for HELB Gene

GenomeRNAi human phenotypes for HELB:
genes like me logo Genes that share phenotypes with HELB: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , 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
Jensen Localization Image for HELB Gene COMPARTMENTS Subcellular localization image for HELB gene
Compartment Confidence
nucleus 4
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HELB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15146062
GO:0005658 colocalizes_with alpha DNA polymerase:primase complex IDA 12181327
GO:0005662 colocalizes_with DNA replication factor A complex IDA 26774285
GO:0005681 spliceosomal complex IBA --
GO:0005737 cytoplasm IDA 15146062
genes like me logo Genes that share ontologies with HELB: view

Pathways & Interactions for HELB Gene

SuperPathways for HELB Gene

No Data Available

Gene Ontology (GO) - Biological Process for HELB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IBA --
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
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Manganese Approved Nutra 33
Magnesium Nutra 0

(1) Additional Compounds for HELB 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 HELB: view

Transcripts for HELB Gene

mRNA/cDNA for HELB Gene

Unigene Clusters for HELB Gene

Helicase (DNA) B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for HELB Gene

GeneLoc Exon Structure for
HELB
ECgene alternative splicing isoforms for
HELB

Expression for HELB Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for HELB Gene



Protein tissue co-expression partners for HELB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HELB Gene:

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.
genes like me logo Genes that share expression patterns with HELB: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
cow
(Bos Taurus)
Mammalia HELB 34
  • 82.62 (n)
  • 76.26 (a)
HELB 35
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HELB 34
  • 78.39 (n)
  • 71.87 (a)
HELB 35
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Helb 34
  • 73.06 (n)
  • 68.46 (a)
Helb 16
Helb 35
  • 65 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HELB 34
  • 99.48 (n)
  • 99.45 (a)
HELB 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Helb 34
  • 73.05 (n)
  • 67.14 (a)
oppossum
(Monodelphis domestica)
Mammalia HELB 35
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 70 (a)
OneToMany
-- 35
  • 52 (a)
OneToMany
chicken
(Gallus gallus)
Aves HELB 34
  • 59.08 (n)
  • 49.65 (a)
HELB 35
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HELB 35
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia helb 34
  • 53.87 (n)
  • 44.79 (a)
zebrafish
(Danio rerio)
Actinopterygii helb 34
  • 48.79 (n)
  • 41.06 (a)
helb 35
  • 34 (a)
OneToOne
Species where no ortholog for HELB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • worm (Caenorhabditis elegans)

Evolution for HELB Gene

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

Paralogs for HELB Gene

No data available for Paralogs for HELB Gene

Variants for HELB Gene

Sequence variations from dbSNP and Humsavar for HELB Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs35605829 - 66,305,057(+) ACAAG(A/G)AAACT nc-transcript-variant, reference, missense
rs4430553 - 66,305,115(+) GTTCC(C/T)AGACA nc-transcript-variant, reference, missense
rs35138454 - 66,309,727(+) GGAAA(C/T)TCCTG nc-transcript-variant, reference, missense
rs1185244 - 66,331,380(-) GGGAC(A/G)GAAAA reference, missense
rs1168312 - 66,331,422(-) ACGGT(A/G)TGCTG reference, missense

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)

Relevant External Links for HELB Gene

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

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

Disorders for HELB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
supraglottis cancer
  • ca larynx - supraglottis
- elite association - COSMIC cancer census association via MalaCards
Search HELB in MalaCards View complete list of genes associated with diseases

Relevant External Links for HELB

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HELB
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. (J. Biol. Chem. 2002) 2 3 4 65
  2. HELB Is a Feedback Inhibitor of DNA End Resection. (PMID: 26774285) TkA!A8 J. … Durocher D. (Mol. Cell 2016) 3 4 65
  3. 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 65
  4. Human DNA helicase B interacts with the replication initiation protein Cdc45 and facilitates Cdc45 binding onto chromatin. (PMID: 25933514) Gerhardt J. … Fanning E. (Exp. Cell Res. 2015) 3 4 65
  5. Human DNA helicase B (HDHB) binds to replication protein A and facilitates cellular recovery from replication stress. (PMID: 22194613) Guler G.D. … Fanning E. (J. Biol. Chem. 2012) 3 4 65

Products for HELB Gene

Sources for HELB Gene

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