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HELB Gene

protein-coding   GIFtS: 47
GCID: GC12P066696

Helicase (DNA) B

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Helicase (DNA) B1 2
hDHB2 3
DNA Helicase B2
EC 3.6.4.123
HDHB5

External Ids:    HGNC: 171961   Entrez Gene: 927972   Ensembl: ENSG000001273117   OMIM: 6145395   UniProtKB: Q8NG083   

Export aliases for HELB gene to outside databases

Previous GC identifers: GC12P066087 GC00U907484 GC12P066413 GC12P064982 GC12P063747


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. (provided by RefSeq, Mar 2012)

GeneCards Summary for HELB Gene:
HELB (helicase (DNA) B) is a protein-coding gene. Diseases associated with HELB include atypical lipomatous tumor, and xeroderma pigmentosum. GO annotations related to this gene include ATP-dependent 5'-3' DNA helicase activity and single-stranded DNA-dependent ATP-dependent DNA helicase activity.

UniProtKB/Swiss-Prot: HELB_HUMAN, Q8NG08
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HELB gene promoter:
         Max1   Lmo2   Ik-3   Arnt   GATA-6   POU2F1   HFH-1   POU2F1a   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHELB promoter sequence
   Search Chromatin IP Primers for HELB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HELB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q14.3|12q   Ensembl cytogenetic band:  12q14.3   HGNC cytogenetic band: 12q14.2

HELB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HELB gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P066696:  view genomic region     (about GC identifiers)

Start:
66,696,325 bp from pter      End:
66,737,423 bp from pter
Size:
41,099 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HELB_HUMAN, Q8NG08 (See protein sequence)
Recommended Name: DNA helicase B  
Size: 1087 amino acids; 123252 Da
Subunit: Binds to RPA1; this interaction promotes HELB recruitment to chromatin following DNA damage. Interacts
with at least two subunits of pol-prim
Sequence caution: Sequence=BAB15754.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8K4C9 Q4G0T2 Q9H7L5
Alternative splicing: 2 isoforms:  Q8NG08-1   Q8NG08-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HELB: NX_Q8NG08

Explore proteomics data for HELB at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys254
  • Modification sites at PhosphoSitePlus

  • See HELB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_387467.2  
    ENSEMBL proteins: 
     ENSP00000247815   ENSP00000396955   ENSP00000439617   ENSP00000443287  

    HELB Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for HELB

    HELB Assay Products:

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    Cloud-Clone Corp. ELISAs for HELB
    Cloud-Clone Corp. CLIAs for HELB


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR027044 Helb
     IPR027417 P-loop_NTPase
     IPR027785 UvrD_like_helicase_C

    Graphical View of Domain Structure for InterPro Entry Q8NG08

    ProtoNet protein and cluster: Q8NG08


    HELB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HELB_HUMAN, Q8NG08
    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
    Catalytic activity: ATP + H(2)O = ADP + phosphate
    Enzyme regulation: 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 Number (IUBMB): EC 3.6.4.121

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004003ATP-dependent DNA helicase activity ----
    GO:0005524ATP binding IEA--
    GO:0017116single-stranded DNA-dependent ATP-dependent DNA helicase activity IDA12181327
    GO:0043141ATP-dependent 5'-3' DNA helicase activity IDA12181327
         
    HELB for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HELB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HELB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HELB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HELB

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    Predesigned siRNA for gene silencing in human, mouse, rat HELB

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HELB_HUMAN, Q8NG08: Note=Preferentially during S phase, recruited to chromatin following DNA damage induced by
    UV irradiation, or camptothecin or hydroxyurea treatment
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus2
    cytosol1
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005658colocalizes with alpha DNA polymerase:primase complex IDA12181327

    HELB for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HELB
    Interactions:

        Search GeneGlobe Interaction Network for HELB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HELB (Q8NG083 ENSP000002478154) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POLA2Q141813, ENSP000002654654I2D: score=2 STRING: ENSP00000265465
    PMS1P542773, ENSP000004064904I2D: score=1 STRING: ENSP00000406490
    POLA1P098843, ENSP000003683494I2D: score=2 STRING: ENSP00000368349
    RPA1P276943, ENSP000002547194I2D: score=1 STRING: ENSP00000254719
    PCNAENSP000003684384STRING: ENSP00000368438
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006260DNA replication IMP12181327
    GO:0006261DNA-dependent DNA replication ----
    GO:0006269DNA replication, synthesis of RNA primer IDA12181327
    GO:0032508DNA duplex unwinding IDA12181327

    HELB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HELB

    2 HMDB Compounds for HELB    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HELB gene: 
    NM_033647.3  

    Unigene Cluster for HELB:

    Helicase (DNA) B
    Hs.505941  [show with all ESTs]
    Unigene Representative Sequence: NM_033647
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000247815 ENST00000440906 ENST00000542394(uc010ssz.1) ENST00000545134(uc001sti.2 uc009zqt.1)
    ENST00000545455 ENST00000536862
    miRNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HELB
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      QuantiFast Probe-based Assays in human, mouse, rat HELB

    Additional mRNA sequence: 

    AF319995.1 AK290894.1 BC143409.1 BC143411.1 

    4 DOTS entries:

    DT.100017201  DT.100657040  DT.40308642  DT.75135008 

    18 AceView cDNA sequences:

    AA256818 AA256278 AI224503 NM_033647 BX096922 BI596828 BC037946 BX510066 
    BX641439 BU195661 AW003565 AL602198 BX510230 BE778166 BF380938 AA070216 
    AA070301 AK024464 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HELB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAATTTTCT
    HELB Expression
    About this image

    HELB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HELB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.505941

    UniProtKB/Swiss-Prot: HELB_HUMAN, Q8NG08
    Tissue specificity: Highly expressed in testis and thymus and weakly in liver, spleen, kidney and brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HELB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HELB gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Helb1 , 5 helicase (DNA) B1, 5 73.06(n)1
    68.46(a)1
      10 (67.94 cM)5
    1175991  NM_080446.21  NP_536694.21 
     1200836085 
    chicken
    (Gallus gallus)
    Aves HELB1 helicase (DNA) B 59.08(n)
    49.65(a)
      417836  XM_416077.4  XP_416077.3 
    lizard
    (Anolis carolinensis)
    Reptilia HELB6
    helicase (DNA) B
    43(a)
    1 ↔ 1
    GL343256.1(337627-378157)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia helb1 helicase (DNA) B 53.87(n)
    44.79(a)
      100485733  XM_002937539.2  XP_002937585.2 
    zebrafish
    (Danio rerio)
    Actinopterygii helb1 helicase (DNA) B 48.79(n)
    41.06(a)
      797342  XM_001336741.4  XP_001336777.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HELB (see all 974)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1462552751,2
    --66694346(+) ACCCTA/GTTTCT 1 -- us2k10--------
    rs121467071,2
    C,F,A,H--66694435(+) GATCAC/TTTGAG 1 -- us2k1 tfbs315Minor allele frequency- T:0.19NS EA NA WA CSA 782
    rs1400559571,2
    --66694465(+) CTCAGC/TGAGCT 1 -- us2k10--------
    rs121467571,2
    C,F,A--66694475(+) TGAGAC/TGGTGC 1 -- us2k113Minor allele frequency- T:0.49NA WA CSA EA 376
    rs1928493931,2
    --66694480(+) TGGTGA/CCACTA 1 -- us2k10--------
    rs1836555791,2
    --66694488(+) CTATAA/GACCTG 1 -- us2k10--------
    rs348596301,2
    C--66694517(+) AAAAAAAA/-GGGAG 1 -- cds11Minor allele frequency- -:0.00NA 2
    rs1420454101,2
    --66694560(+) CACATA/CTGTAA 1 -- us2k10--------
    rs1446642781,2
    --66694595(+) CAGGAA/GGATCA 1 -- us2k10--------
    rs346090191,2
    C--66694664(+) CCCCC-/AAAAAA 1 -- us2k12Minor allele frequency- A:0.25NA CSA 4

    HapMap Linkage Disequilibrium report for HELB (66696325 - 66737423 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HELB:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv899216CNV Gain21882294

    Human Gene Mutation Database (HGMD): HELB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HELB
    DNA2.0 Custom Variant and Variant Library Synthesis for HELB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614539    OMIM disorders: --

    3 diseases for HELB:    
    About MalaCards
    atypical lipomatous tumor    xeroderma pigmentosum    liposarcoma


    HELB for disorders           About GeneDecksing


    Export disorders for HELB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HELB gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with HELB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A dominant-negative mutant of human DNA helicase B blocks the onset of chromosomal DNA replication. (PubMed id 12181327)1, 2, 3 Taneja P.... Fanning E. (J. Biol. Chem. 2002)
    2. Human DNA helicase B (HDHB) binds to replication protein A and facilitates cellular recovery from replication stress. (PubMed id 22194613)1, 2 Guler G.D.... Fanning E. (J. Biol. Chem. 2012)
    3. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    5. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    6. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    7. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)2 Matsuoka S.... Elledge S.J. (Science 2007)
    8. Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2. (PubMed id 17148452)1 Cannavo E....Jiricny J. (J. Biol. Chem. 2007)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 92797 HGNC: 17196 AceView: HELB Ensembl:ENSG00000127311 euGenes: HUgn92797
    ECgene: HELB H-InvDB: HELB

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HELB Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HELB gene:
    Search GeneIP for patents involving HELB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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