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Aliases for HELB Gene

Aliases for HELB Gene

  • 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 (Helicase (DNA) B) is a Protein Coding gene. Diseases associated with HELB include atypical lipomatous tumor. GO annotations related to this gene include poly(A) RNA binding and ATP-dependent DNA helicase activity.

UniProtKB/Swiss-Prot for HELB Gene

  • Unwinds duplex DNA with 5-3 polarity. Has single-strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP as substrates. During S phase, may facilitate cellular recovery from replication stress.

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

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. Interacts with at least two subunits of pol-prim.
    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

Proteomics data for HELB Gene at MOPED

Post-translational modifications for HELB Gene

  • Ubiquitination at Lys 254
  • Modification sites at PhosphoSitePlus

Other Protein References for HELB Gene

Antibody Products

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

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

No data available for Gene Families and UniProtKB/Swiss-Prot 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:
Unwinds duplex DNA with 5-3 polarity. Has single-strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP as substrates. During S phase, may facilitate cellular recovery from replication stress.

Enzyme Numbers (IUBMB) for HELB Gene

Gene Ontology (GO) - Molecular Function for HELB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044822 poly(A) RNA binding IBA --
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

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

Note=Preferentially during S phase, recruited to chromatin following DNA damage induced by UV irradiation, or camptothecin or hydroxyurea treatment.

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

No data available for Gene Ontology (GO) - Cellular Components for HELB Gene

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:0006396 RNA processing IBA --
GO:0032508 DNA duplex unwinding IEA --
GO:2000042 negative regulation of double-strand break repair via homologous recombination IMP 26774285
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

(3) Drugs for HELB Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Manganese Pharma 32
Magnesium Nutra 0

(3) 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
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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, MOPED, and MaxQB for HELB Gene



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

Protein tissue co-expression partners for HELB Gene

- Elite partner

Primer Products

In Situ Assay 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 35
  • 82.62 (n)
  • 76.26 (a)
HELB 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HELB 35
  • 78.39 (n)
  • 71.87 (a)
HELB 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Helb 35
  • 73.06 (n)
  • 68.46 (a)
Helb 16
Helb 36
  • 65 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HELB 35
  • 99.48 (n)
  • 99.45 (a)
HELB 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Helb 35
  • 73.05 (n)
  • 67.14 (a)
oppossum
(Monodelphis domestica)
Mammalia HELB 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 70 (a)
OneToMany
-- 36
  • 52 (a)
OneToMany
chicken
(Gallus gallus)
Aves HELB 35
  • 59.08 (n)
  • 49.65 (a)
HELB 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HELB 36
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia helb 35
  • 53.87 (n)
  • 44.79 (a)
zebrafish
(Danio rerio)
Actinopterygii helb 35
  • 48.79 (n)
  • 41.06 (a)
helb 36
  • 34 (a)
OneToOne
Species with no ortholog for HELB:
  • 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
nsv899216 CNV Gain 21882294

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

HapMap Linkage Disequilibrium report
HELB
Human Gene Mutation Database (HGMD)
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
atypical lipomatous tumor
  • pleomorphic lipoma
- 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. 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. 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
  5. Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2. (PMID: 17148452) Cannavo E. … Jiricny J. (J. Biol. Chem. 2007) 3

Products for HELB Gene

Sources for HELB Gene

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