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HELLS Gene

protein-coding   GIFtS: 63
GCID: GC10P096305

Helicase, Lymphoid-Specific

  See HELLS-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, 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 encoding different isoforms have been identified. (provided by RefSeq, Jan 2014)

GeneCards Summary for HELLS Gene:
HELLS (helicase, lymphoid-specific) is a protein-coding gene. Diseases associated with HELLS include autosomal dominant progressive external ophthalmoplegia, and rothmund-thomson syndrome. GO annotations related to this gene include chromatin binding and helicase activity.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   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 Chromatin IP Primers for HELLS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HELLS_HUMAN, Q9NRZ9 (See protein sequence)
Recommended Name: Lymphoid-specific helicase  
Size: 838 amino acids; 97074 Da
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: 

  • Ubiquitination2 at Lys74, Lys80, Lys204, Lys731, Lys753
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HELLS (Q9NRZ9) (see all 9)
     TGTPLQN  DSDWNPQ  GLGKTVQ  RCHRIGQ 


    See HELLS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (10 alternative transcripts): 
    NP_001275996.1  NP_001275997.1  NP_001275998.1  NP_001275999.1  NP_001276000.1  NP_001276001.1  NP_001276002.1  NP_001276003.1  
    NP_001276004.1  NP_060533.2  

    ENSEMBL proteins: 
     ENSP00000409945   ENSP00000239027   ENSP00000360378   ENSP00000377609   ENSP00000360383  
     ENSP00000377608   ENSP00000377601   ENSP00000239026  

    HELLS Human Recombinant Protein Products:

    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

     
    Search eBioscience for Proteins for HELLS 

     
    antibodies-online proteins for HELLS (2 products) 

     
    antibodies-online peptides for HELLS

    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
    Novus Biologicals HELLS Antibodies
    Abcam antibodies for HELLS
    Cloud-Clone Corp. Antibodies for HELLS
    ThermoFisher Antibody for HELLS
    antibodies-online antibodies for HELLS (38 products) 

    HELLS Assay Products:

    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
    Search eBioscience for ELISAs for HELLS 
    antibodies-online kits for HELLS (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with HELLS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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--
         
    Find genes that share ontologies with HELLS           About GenesLikeMe


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

    Find genes that share phenotypes with HELLS           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for HELLS

    miRNA
    Products:
        
    miRTarBase miRNAs that target HELLS:
    hsa-let-7b-5p (MIRT032248), hsa-mir-615-3p (MIRT039720), hsa-mir-769-5p (MIRT039180), hsa-mir-877-3p (MIRT036852), hsa-mir-193b-3p (MIRT016323), hsa-mir-124-3p (MIRT022243), hsa-mir-7-5p (MIRT004361)

    Block miRNA regulation of human, mouse, rat HELLS using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate HELLS:
    hsa-miR-7 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidHELLS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HELLS
    Predesigned siRNA for gene silencing in human, mouse, rat HELLS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HELLS

    Clone
    Products:
         
    OriGene clones in human, mouse for HELLS (see all 6)
    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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HELLS
    Browse ESI BIO Cell Lines and PureStem Progenitors for HELLS 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HELLS


    (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
    HELLS_HUMAN, Q9NRZ9: Nucleus (By similarity). Note=Closely associated with pericentric heterochromatin (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with HELLS           About GenesLikeMe


    (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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    SuperPaths for HELLS About    
    See pathways by source

    SuperPathContained pathways About
    1AMPK Enzyme Complex Pathway
    Chromatin Remodeling0.00
    AMPK Enzyme Complex Pathway
    2PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    3Apoptosis (WikiPathways)
    Apoptosis0.38
    4Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation
    5BRCA1 Pathway
    BRCA1 Pathway


    Find genes that share SuperPaths with HELLS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe 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


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HELLS
    Interactions:

        Search GeneGlobe Interaction Network for HELLS

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

    Selected Interacting proteins for HELLS (Q9NRZ91, 2, 3 ENSP000002390274) via UniProtKB, MINT, STRING, and/or I2D (see all 847)
    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
    ENSG00000206454Q018603, ENSP000003730164I2D: score=2 STRING: ENSP00000373016
    ENSG00000229094Q018603, ENSP000003888424I2D: score=2 STRING: ENSP00000388842
    ENSG00000230336Q018603, ENSP000004000474I2D: score=2 STRING: ENSP00000400047
    About this table

    Gene Ontology (GO): Selected biological process terms (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-templated IEA--

    Find genes that share ontologies with HELLS           About GenesLikeMe



    (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 HELLS

    Selected 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)



    Find genes that share compounds with HELLS           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HELLS gene (10 alternative transcripts): 
    NM_001289067.1  NM_001289068.1  NM_001289069.1  NM_001289070.1  NM_001289071.1  NM_001289072.1  NM_001289073.1  NM_001289074.1  
    NM_001289075.1  NM_018063.4  

    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

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HELLS using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate HELLS:
    hsa-miR-7 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidHELLS 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HELLS
    Predesigned siRNA for gene silencing in human, mouse, rat HELLS
    Clone
    Products:
         
    OriGene clones in human, mouse for HELLS (see all 6)
    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
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HELLS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HELLS
      QuantiTect SYBR Green Assays in human, mouse, rat HELLS
      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 

    Selected AceView cDNA sequences (see all 194):

    AB113249 BC029381 CB215519 AB102723 AB102719 AA815186 BC015477 AB102720 
    BQ214184 AW960458 BQ422987 AI240837 AY007108 N93682 AI240803 AF155827 
    AA280047 AB113248 BU193985 AB102721 AB102716 AB102718 AA455231 AA281095 

    GeneLoc Exon Structure

    Selected 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™, 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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    HELLS expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 6) fully expand
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Gonad (Reproductive System)
             Primordial Germ Cells Primitive Gonad
    HELLS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HELLS Protein Expression

    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HELLS gene from Selected species (see all 16)    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 HELLS6
    helicase, lymphoid-specific
    82(a)
    1 ↔ 1
    6(16040532-16060443)
    lizard
    (Anolis carolinensis)
    Reptilia HELLS6
    helicase, lymphoid-specific
    72(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
    IRC51
    Putative ATPase containing the DEAD/H helicase-related more4
    IRC51
    53.68(n)1
    47.96(a)1
      6(229380-231941)4
    8505991, 4  NP_116696.21, 4 
    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)
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    Paralogs for HELLS gene
    Selected 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

    Find genes that share paralogs with HELLS           About GenesLikeMe



    (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 HELLS (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
    ----------
    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--------
    rs1811472441,2
    --96304281(+) GCAGTC/GAGCAG 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HELLS
    DNA2.0 Custom Variant and Variant Library Synthesis for HELLS

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

    2 diseases for HELLS:    
    About MalaCards
    autosomal dominant progressive external ophthalmoplegia    rothmund-thomson syndrome


    Find genes that share disorders with HELLS           About GenesLikeMe

    Selected 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)
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    PubMed articles for HELLS gene, integrated from 10 sources (see all 603):
    (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. (Cancer Res. 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. (Genomics 1998)
    3. Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. (PubMed id 19064572)1, 4 Palmieri R.T.... . (amp 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. (Int. J. Cancer 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. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 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. (Cancer Lett. 2003)
    9. Senescence delay and repression of p16INK4a by Lsh via recruitment of histone deacetylases in human diploid fibroblasts. (PubMed id 19561196)1, 9 Zhou R....Tong T. (Nucleic Acids Res. 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. (Epigenetics 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 3070 HGNC: 4861 AceView: HELLS Ensembl:ENSG00000119969 euGenes: HUgn3070
    ECgene: HELLS H-InvDB: HELLS

    (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 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

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    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



    (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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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