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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HELB Gene

protein-coding   GIFtS: 45
GCID: GC12P066696

helicase (DNA) B

 Explore 2 diseases affiliated with
HELB via our new
 Human Malady Compendium 
Biological research products
for HELB
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Helicase (DNA) B1 2
HDHB1
DNA Helicase B2
Helicase B2
EC 3.6.4.123

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HELB:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HELB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NG08

  • HELB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Uscn Proteins for HELB

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    HELB for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HELB for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR027044 Helb

    Graphical View of Domain Structure for InterPro Entry Q8NG08

    ProtoNet protein and cluster: Q8NG08


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

    miRNA
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HELB (see all 4)
    OriGene shRNA RFP: HELB
    OriGene siRNA: HELB
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HELB

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HELB

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for HELB (Q8NG083 ENSP000002478154) via UniProtKB, MINT, STRING, and/or I2D
    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
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    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


    HELB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--
    Search CenterWatch for drugs/clinical trials and news about HELB 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HELB
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate HELB
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HELB (see all 4)
    OriGene shRNA RFP: HELB
    OriGene siRNA: HELB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HELB
    Clone
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    Additional cDNA sequence: 

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

    4 DOTS entries:

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

    18 AceView cDNA sequences:

    AI224503 AA256278 AA256818 NM_033647 BU195661 AL602198 BI596828 BX510230 
    BX096922 BX641439 AW003565 BX510066 BE778166 BC037946 AA070301 BF380938 
    AA070216 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HELB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAATTTTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See HELB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HELB

    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

        SABiosciences Custom PCR Arrays for HELB
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    In Situ
    Assay Products:
     

     
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    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for HELB gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Helb1 , 5 helicase (DNA) B1, 5 73.04(n)1
    68.37(a)1
      10 (67.94 cM)5
    1175991  NM_080446.21  NP_536694.21 
     1200836085 
    chicken
    (Gallus gallus)
    Aves HELB1 helicase (DNA) B 59.05(n)
    49.65(a)
      417836  XM_416077.3  XP_416077.3 
    lizard
    (Anolis carolinensis)
    Reptilia HELB6
    --
    46(a)
    1 ↔ 1
    GL343256.1(338422-363574)
    zebrafish
    (Danio rerio)
    Actinopterygii helb1 helicase (DNA) B 50.12(n)
    43.45(a)
      797342  XM_001336741.3  XP_001336777.2 


    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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/825 NCBI SNPs in HELB are shown (see all 825    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs802437281,2
    --63750323(+) CAGTTT/AAAAAA 1 -- int11Minor allele frequency- A:0.50NA 2
    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--66694498(+) AAAAAAAA/-GGGAG 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs1420454101,2
    --66694560(+) CACATA/CTGTAA 1 -- us2k10--------
    rs1446642781,2
    --66694595(+) CAGGAA/GGATCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HELB (66696325 - 66737423 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HELB: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HELB
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    HELB for disorders           About GeneDecksing

    OMIM gene information: 614539    OMIM disorders: --

    2 diseases for HELB:    About MalaCards
    xeroderma pigmentosum    liposarcoma

    1 disease from the University of Copenhagen DISEASES database for HELB:
    Atypical lipomatous tumor

    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)
    About This Section

    PubMed articles for HELB gene, integrated from 9 sources (see all 12):
    (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. (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. (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. (2011)
    4. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    5. 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. (2009)
    6. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)2 Matsuoka S.... Elledge S.J. (2007)
    7. Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2. (PubMed id 17148452)1 Cannavo E....Jiricny J. (2007)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    9. 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. (2002)
    10. Molecular cloning of a cDNA encoding mouse DNA helicase B, which has homology to Escherichia coli RecD protein, and identification of a mutation in the DNA helicase B from tsFT848 temperature-sensitive DNA replication mutant cells. (PubMed id 11557815)1 Tada S....Enomoto T. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 92797 HGNC: 17196 AceView: HELB Ensembl:ENSG00000127311 euGenes: HUgn92797
    ECgene: HELB H-InvDB: HELB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    Patent Information for HELB gene:
    Search GeneIP for patents involving HELB

    GeneCards and IP:
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     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for HELB  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HELB   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HELB  
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     OriGene siRNA for HELB   OriGene 3'-UTR Clone for HELB  
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     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HELB
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     Regulatory tfbs in HELB promoter
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     HELB Proteins, Antibodies, CLIAs, and ELISAs
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     Browse SwitchGear 3'UTR luciferase reporter plasmids for HELB
     SwitchGear Promoter luciferase reporter plasmids for HELB
     Search ThermoFisher Antibodies for HELB
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HELB
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
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    von Willebrand factor
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