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

HELLS Gene

protein-coding   GIFtS: 63
GCID: GC10P096305

Helicase, Lymphoid-Specific

Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
Helicase, Lymphoid-Specific1 2     matrix-associated1
Proliferation-Associated SNF2-Like Protein1 2 3     Member 61
PASG2 3     Subfamily A1
SMARCA62 3     Lymphoid-Specific Helicase2
SWI/SNF2-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
Subfamily A Member 62 3
     SWI/SNF2-Related, Matrix-Associated, Actin-Dependent Regulator Of
Chromatin, Subfamily A, Member 62
LSH2 5     EC 3.6.4.-3
SWI/SNF2-related1     EC 3.6.18
Actin-Dependent Regulator Of Chromatin1     

External Ids:    HGNC: 48611   Entrez Gene: 30702   Ensembl: ENSG000001199697   OMIM: 6039465   UniProtKB: Q9NRZ93   

Export aliases for HELLS gene to outside databases

Previous GC identifers: GC10P095198 GC10P095539 GC10P096436 GC10P095970 GC10P096295 GC10P096261 GC10P089932


(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 HELLS Gene:
This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand
separation, including replication, repair, recombination, and transcription. This protein is thought to be
involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript
variants have been described, but their biological validity has not been determined. (provided by RefSeq, Jul
2008)

GeneCards Summary for HELLS Gene: 
HELLS (helicase, lymphoid-specific) is a protein-coding gene. Diseases associated with HELLS include alpha-thalassemia/mental retardation syndrome, and rothmund-thomson syndrome, and among its related super-pathways are PGC1Alpha Pathway and Apoptosis Modulation and Signaling. GO annotations related to this gene include chromatin binding and helicase activity. An important paralog of this gene is INO80.

UniProtKB/Swiss-Prot: HELLS_HUMAN, Q9NRZ9
Function: Plays an essential role in normal development and survival. Involved in regulation of the expansion or
survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the
imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin,
implying a functional role in the regulation of transcription and mitosis (By similarity)

Gene Wiki entry for HELLS Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HELLS gene promoter:
         HOXA9B   HOXA9   FOXF2   NF-YA   NF-YB   CBF-A   CBF-B   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHELLS promoter sequence
   Search SABiosciences Chromatin IP Primers for HELLS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HELLS


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

Entrez Gene cytogenetic band: 10q24.2   Ensembl cytogenetic band:  10q23.33   HGNC cytogenetic band: 10q24.2

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P096305:  view genomic region     (about GC identifiers)

Start:
96,305,547 bp from pter      End:
96,373,662 bp from pter
Size:
68,116 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HELLS_HUMAN, Q9NRZ9 (See protein sequence)
Recommended Name: Lymphoid-specific helicase  
Size: 838 amino acids; 97074 Da
Subcellular location: Nucleus (By similarity). Note=Closely associated with pericentric heterochromatin (By
similarity)
Sequence caution: Sequence=AAG01987.1; Type=Erroneous initiation; Sequence=AAH29381.1; Type=Erroneous initiation;
Sequence=AAH30963.1; Type=Erroneous initiation; Sequence=AAH31004.1; Type=Erroneous initiation;
Secondary accessions: B2RB41 Q3LID1 Q6I7N7 Q76H76 Q76H77 Q76H78 Q76H79 Q76H80 Q76H81 Q7Z397
Q7Z5X2 Q8N6P4 Q9H4P5
Alternative splicing: 9 isoforms:  Q9NRZ9-1   Q9NRZ9-2   Q9NRZ9-3   Q9NRZ9-4   Q9NRZ9-5   Q9NRZ9-6   Q9NRZ9-7   Q9NRZ9-8   
Q9NRZ9-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HELLS: NX_Q9NRZ9

Explore proteomics data for HELLS at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NRZ9

  • 4/9 DME Specific Peptides for HELLS (Q9NRZ9) (see all 9)
     TGTPLQN  DSDWNPQ  GLGKTVQ  RCHRIGQ 

    HELLS Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HELLS Protein Expression
    REFSEQ proteins: NP_060533.2  
    ENSEMBL proteins: 
     ENSP00000409945   ENSP00000239027   ENSP00000360378   ENSP00000377609   ENSP00000360383  
     ENSP00000377608   ENSP00000377601   ENSP00000239026  

    Human Recombinant Protein Products for HELLS: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for HELLS
    OriGene Protein Over-expression Lysate for HELLS
    OriGene MassSpec for HELLS 
    OriGene Custom Protein Services for HELLS
    GenScript Custom Purified and Recombinant Proteins Services for HELLS
    Novus Biologicals HELLS Protein
    Novus Biologicals HELLS Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HELLS 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000775chromosome, centromeric region ISS--
    GO:0005634nucleus IEA--
    GO:0005721centromeric heterochromatin ISS--

    HELLS for ontologies           About GeneDecksing



    HELLS Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of HELLS
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for HELLS 
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for HELLS
    GenScript Custom Superior Antibodies Services for HELLS
    Novus Biologicals HELLS Antibodies
    Abcam antibodies for HELLS
    Cloud-Clone Corp. Antibodies for HELLS 
    ThermoFisher Antibody for HELLS
    LSBio Antibodies in human, mouse, rat for HELLS 

    Assay Products for HELLS: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HELLS
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HELLS
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HELLS 
    Cloud-Clone Corp. CLIAs for HELLS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR000330 SNF2_N
     IPR027417 P-loop_NTPase
     IPR014001 Helicase_ATP-bd
     IPR001650 Helicase_C

    Graphical View of Domain Structure for InterPro Entry Q9NRZ9

    ProtoNet protein and cluster: Q9NRZ9

    1 Blocks protein domain: IPB000330 SNF2 related domain

    UniProtKB/Swiss-Prot: HELLS_HUMAN, Q9NRZ9
    Similarity: Belongs to the SNF2/RAD54 helicase family
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    HELLS 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HELLS_HUMAN, Q9NRZ9
    Function: Plays an essential role in normal development and survival. Involved in regulation of the expansion or
    survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the
    imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin,
    implying a functional role in the regulation of transcription and mitosis (By similarity)
    Induction: By concanavalin-A in peripheral blood leukocytes

         Genatlas biochemistry entry for HELLS:
    helicase lymphoid specific,expressed in early thymocytes and testis,SNF2/RAD54 family potentially involved in DNA
    repair,homologous to S cerivisiae YFK8

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.-1

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0004386helicase activity IEA--
    GO:0005515protein binding IPI--
         
    HELLS for ontologies           About GeneDecksing


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hells):
     adipose tissue  behavior/neurological  cellular  embryogenesis  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  limbs/digits/tail 
     mortality/aging  pigmentation  renal/urinary system  respiratory system  skeleton 

    HELLS for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HELLS: Hellstm1Kmu Hellstm1Rarc

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HELLS 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HELLS

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target HELLS:
    hsa-mir-7 (MIRT004361)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HELLS
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate HELLS:
    hsa-miR-7 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidHELLS 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HELLS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HELLS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HELLS
    Sirion Biotech Customized adenovirus for overexpression of HELLS

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for HELLS (see all 7)
    OriGene ORF clones in mouse, rat for HELLS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HELLS (NM_018063)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HELLS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HELLS
    Sirion Biotech Customized lentivirus for stable overexpression of HELLS 
                         Customized lentivirus expression plasmids for stable overexpression of HELLS 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HELLS
    Search LifeMap BioReagents cell lines for HELLS
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HELLS


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HELLS About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    2Apoptosis Modulation and Signaling
    Apoptosis0.38
    3Development Ligand-dependent activation of the ESR1/AP-1 pathway
    Chromatin Remodeling0.30
    4BRCA1 Pathway
    BRCA1 Pathway
    5AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HELLS
        AMPK Enzyme Complex Pathway
    BRCA1 Pathway
    Glucocorticoid Receptor Signaling
    Chromatin Remodeling

    1 Cell Signaling Technology (CST) Pathway for HELLS
        Chromatin Regulation / Acetylation

    1 BioSystems Pathway for HELLS
        Apoptosis



    HELLS for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/803 Interacting proteins for HELLS (Q9NRZ92, 3 ENSP000002390274) via UniProtKB, MINT, STRING, and/or I2D (see all 803)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC1Q135472, 3, ENSP000003626494MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000362649
    HDAC2Q927692, 3, ENSP000003813314MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000381331
    ENSG00000206454Q018603I2D: score=2 
    ENSG00000229094Q018603I2D: score=2 
    ENSG00000230336Q018603I2D: score=2 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001655urogenital system development IEA--
    GO:0006306DNA methylation ----
    GO:0006342chromatin silencing ----
    GO:0006346methylation-dependent chromatin silencing ISS--
    GO:0006351transcription, DNA-dependent IEA--

    HELLS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HELLS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HELLS

    10/56 Novoseek inferred chemical compound relationships for HELLS gene (see all 56)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 72.9 114 8413273 (3), 19839642 (3), 11551790 (2), 19203580 (2) (see all 88)
    8-hydroxyadenine 49.5 1 12060667 (1)
    benzo(c)phenanthrene 40.3 4 12881525 (2), 16380375 (1)
    amp-pnp 39.7 1 18022636 (1)
    methylmethanesulfonate 38.9 5 12638184 (1), 11861900 (1), 15590327 (1), 19620285 (1)
    ribavirin 37.8 2 15230850 (1)
    hydroxyurea 36.5 3 15702347 (1), 10743562 (1)
    oligonucleotide 33.6 12 10213622 (2), 12718544 (2), 16474403 (1), 15635154 (1) (see all 8)
    adp 29.5 4 1702201 (1), 18022636 (1), 15585580 (1), 20028084 (1)
    8-hydroxyguanine 29.4 1 12531019 (1)

    Search CenterWatch for drugs/clinical trials and news about HELLS

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HELLS gene: 
    NM_018063.3  

    Unigene Cluster for HELLS:

    Helicase, lymphoid-specific
    Hs.655830  [show with all ESTs]
    Unigene Representative Sequence: NM_018063
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000419900 ENST00000348459(uc001kjs.3 uc001kjt.3 uc009xul.3 uc009xum.3 uc009xun.3 uc009xuo.3 uc001kju.3 uc009xup.3 uc009xuq.3 uc009xur.3)
    ENST00000462057 ENST00000466552 ENST00000371327 ENST00000464030 ENST00000475263
    ENST00000394045 ENST00000371332 ENST00000394044 ENST00000394036 ENST00000239026

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HELLS
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate HELLS:
    hsa-miR-7 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidHELLS 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HELLS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HELLS
    Clone
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    OriGene clones in human, mouse for HELLS (see all 7)
    OriGene ORF clones in mouse, rat for HELLS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HELLS (NM_018063)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HELLS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HELLS
    Sirion Biotech Customized lentivirus for stable overexpression of HELLS 
                         Customized lentivirus expression plasmids for stable overexpression of HELLS 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for HELLS
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HELLS
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HELLS
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HELLS

    Additional mRNA sequence: 

    AB074174.1 AB102716.1 AB102717.1 AB102718.1 AB102719.1 AB102720.1 AB102721.1 AB102722.1 
    AB102723.1 AB113248.1 AB113249.1 AF155827.1 AK001201.1 AK022928.1 AK308331.1 AK314485.1 
    AY007108.1 BC015477.1 BC029381.1 BC030963.1 BC031004.1 BC068440.1 BC105606.1 BC111789.1 
    BX538033.1 

    19 DOTS entries:

    DT.209729  DT.97773184  DT.212909  DT.102842721  DT.97816950  DT.102842717  DT.121223801  DT.121223898 
    DT.102842722  DT.102842718  DT.102842719  DT.97835331  DT.121223777  DT.121223806  DT.95342751  DT.100017734 
    DT.102842720  DT.40122514  DT.95147875 

    24/194 AceView cDNA sequences (see all 194):

    AI240837 AA491250 AW613654 NM_018063 W81279 AA455231 AA281095 BC029381 
    AA280047 AB102719 AB102716 BQ214184 N93682 AI377912 AA815186 AB102720 
    AB102723 AB102717 BX538033 AB102721 BQ422987 AB102722 AB113249 AB113248 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for HELLS (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a ·
    SP1:                                                                                                                                -                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                  -     -     -     -           -                           
    SP4:                                                                                                                                -                           
    SP5:                                                                                                                                                            

    ExUns: 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for HELLS

    (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

    HELLS expression in normal human tissues (normalized intensities)      HELLS embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGAGAGATT
    HELLS Expression
    About this image


    HELLS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             bone marrow   
     
     Lymph (Hematopoietic System)    fully expand to see all 3 entries
             lymph node ; non-germinal center cells   
             LYMPH NODE   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   
     
     Epithelium (Uncategorized)    fully expand to see all 3 entries
             vagina ; squamous epithelial cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   

    See HELLS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HELLS

    SOURCE GeneReport for Unigene cluster: Hs.655830

    UniProtKB/Swiss-Prot: HELLS_HUMAN, Q9NRZ9
    Tissue specificity: Highly expressed in proliferative tissues such as adult thymus and testis, and expressed at
    lower levels in uterus, small intestine, colon, and peripheral blood mononuclear cells. Also expressed in
    neoplastic cell lines including those derived from myeloid and lymphoid leukemias

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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 eukaryotes.

    Orthologs for HELLS gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hells1 , 5 helicase, lymphoid specific1, 5 89.36(n)1
    91.35(a)1
      19 (33.57 cM)5
    152011  NM_008234.31  NP_032260.21 
     389309155 
    chicken
    (Gallus gallus)
    Aves HELLS1 helicase, lymphoid-specific 76.22(n)
    82.53(a)
      423750  XM_421626.3  XP_421626.2 
    lizard
    (Anolis carolinensis)
    Reptilia HELLS6
    Uncharacterized protein
    74(a)
    1 ↔ 1
    GL343297.1(1581331-1613207)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA790941.12   -- 77.15(n)    CA790941.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb652 sbcb65 73.98(n)   321071  AL728479.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IRC5(YFR038W)4 Putative ATPase containing the DEAD/H helicase-related more   --   6(229380-231941) 850599  NP_116696.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CHR11 chromatin remodeling 1 52.69(n)
    46.15(a)
      836808  NM_126073.2  NP_201476.1 
    barley
    (Hordeum vulgare)
    Liliopsida Hv.26672 Transcribed sequence with weak similarity to protein more 73.14(n)    AV916274.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HELLS gene
    INO802  
    18/24 SIMAP similar genes for HELLS using alignment to 6 protein entries:     HELLS_HUMAN (see all proteins) (see all similar genes):
    SMARCAD1    SMARCA5    ERCC6    CHD5    DKFZp434K213    RAD26L
    SMARCA1    DKFZp434P202    ERCC6L    INO80    CHD1L    CHD2
    CHD3    CHD4    CHD9    DKFZp434J1672    SRCAP    CHD6

    HELLS for paralogs           About GeneDecksing



    (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) 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

    10/1215 SNPs in HELLS are shown (see all 1215)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0647204
    ----see VAR_0647202 H R mis40--------
    rs1846347611,2
    --96303731(+) TACTTG/TTCAGG 1 -- us2k10--------
    rs768798981,2
    C--96303787(+) CCTTTA/TTTCCC 1 -- us2k10--------
    rs766148391,2
    C--96303796(+) CCATGG/TTTTTT 1 -- us2k10--------
    rs30549291,2
    C--96303820(+) ttttt-/TT/TT 
     TTTTTTT
    ttttt
    2 -- us2k1 cds11NA 2
    rs1170003661,2
    F--96303844(+) GTAGCT/CTTATC 1 -- us2k11Minor allele frequency- C:0.01EA 120
    rs1894736771,2
    --96304021(+) GCCTGC/TACTCT 1 -- us2k10--------
    rs1808798391,2
    --96304130(+) AAACAC/GACAAA 1 -- us2k10--------
    rs1857670021,2
    --96304142(+) ACCCCA/CAACCA 1 -- us2k10--------
    rs1910612741,2
    --96304259(+) CTGAGC/TCCAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HELLS (96305547 - 96373662 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HELLS:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv517681CNV Gain19592680

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603946    OMIM disorders: --

    20/52 diseases for HELLS (see all 52):    About MalaCards
    alpha-thalassemia/mental retardation syndrome    rothmund-thomson syndrome    hepatitis e    ruptured abdominal aortic aneurysm
    autosomal dominant progressive external ophthalmoplegia    progeria    bloom syndrome    alpha thalassemia
    pasteurellosis    werner syndrome    japanese encephalitis    compartment syndrome
    ophthalmoplegia    abdominal aortic aneurysm    thalassemia    west nile virus
    yellow fever    dermatomyositis    aortic aneurysm    hepatitis c


    HELLS for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/43 Novoseek inferred disease relationships for HELLS gene (see all 43)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    werner syndrome 94.7 46 8976161 (2), 15084309 (2), 16503984 (2), 9012406 (1) (see all 40)
    bloom syndrome 92.4 21 8976161 (1), 10924124 (1), 12351580 (1), 11283371 (1) (see all 21)
    rothmund-thomson syndrome 90 9 18430459 (1), 18598796 (1), 18719387 (1), 11795503 (1) (see all 8)
    cockayne syndrome 81.5 12 1339317 (1), 8976161 (1), 16167068 (1), 10660593 (1) (see all 11)
    trichothiodystrophy 80.4 4 8976161 (1), 11062469 (1), 10660593 (1), 16973432 (1)
    atr-x syndrome 79.1 3 9192813 (1), 9043863 (1), 16125058 (1)
    xeroderma pigmentosum 77.2 17 8687116 (1), 8976161 (1), 16167068 (1), 18029358 (1) (see all 17)
    group b cockayne syndrome 74 4 12531019 (2), 11867210 (1), 19580815 (1)
    fanconis anemia 59.8 2 16973432 (2)
    progressive external ophthalmoplegia 58.8 1 18971204 (1)

    Genetic Association Database (GAD): HELLS
    Human Genome Epidemiology (HuGE) Navigator: HELLS (1 document)

    Export disorders for HELLS 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 HELLS gene, integrated from 9 sources (see all 602):
    (articles sorted by number of sources associating them with HELLS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Proliferation-associated SNF2-like gene (PASG): a SNF2 family member altered in leukemia. (PubMed id 10910076)1, 2, 3, 9 Lee D.W.... Arceci R.J. (2000)
    2. Characterization of gene expression, genomic structure, and chromosomal localization of Hells (Lsh). (PubMed id 9878251)1, 3, 9 Geiman T.M....Muegge K. (1998)
    3. Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. (PubMed id 19064572)1, 4 Palmieri R.T.... . (2008)
    4. Tumor-specific exon creation of the HELLS/SMARCA6 gene in non-small cell lung cancer. (PubMed id 15305370)1, 2 Yano M....Shimizu K. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    8. Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma. (PubMed id 12880961)1, 2 Ohira M.... Nakagawara A. (2003)
    9. Senescence delay and repression of p16INK4a by Lsh vi a recruitment of histone deacetylases in human diploid fibroblasts. (PubMed id 19561196)1, 9 Zhou R....Tong T. (2009)
    10. Stable knockdown of PASG enhances DNA demethylation but does not accelerate cellular senescence in TIG-7 human fibroblasts. (PubMed id 18948754)1, 9 Suzuki T....Arceci R.J. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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: 3070 HGNC: 4861 AceView: HELLS Ensembl:ENSG00000119969 euGenes: HUgn3070
    ECgene: HELLS H-InvDB: HELLS

    (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 HELLS Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HELLS Genetics and Cytogenetics in Oncology and Haematology

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

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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