Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



RTEL1 Gene

protein-coding   GIFtS: 54
GCID: GC20P062289

Regulator Of Telomere Elongation Helicase 1

(Previous name: chromosome 20 open reading frame 41)
(Previous symbol: C20orf41)
  See RTEL1-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

TryGeneCards Plus

Aliases
Regulator Of Telomere Elongation Helicase 11 2     Chromosome 20 Open Reading Frame 411
C20orf411 2 3 5     RTEL2
NHL2 3 5     Regulator Of Telomere Length2
DKCA42 5     EC 3.6.4.123
DKCB52 5     Novel Helicase-Like3
KIAA10883 5     EC 3.6.18

External Ids:    HGNC: 158881   Entrez Gene: 517502   Ensembl: ENSG000002583667   OMIM: 6088335   UniProtKB: Q9NZ713   

Export aliases for RTEL1 gene to outside databases

Previous GC identifers: GC20P061760 GC20P059019


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

TryGeneCards Plus

Entrez Gene summary for RTEL1 Gene:
This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and
interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in
this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through
transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor
superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript
variants encoding different isoforms. (provided by RefSeq, Sep 2013)

GeneCards Summary for RTEL1 Gene:
RTEL1 (regulator of telomere elongation helicase 1) is a protein-coding gene. Diseases associated with RTEL1 include dyskeratosis congenita, autosomal dominant 4, and dyskeratosis congenita, autosomal recessive 5. GO annotations related to this gene include ATP-dependent DNA helicase activity and 4 iron, 4 sulfur cluster binding. An important paralog of this gene is DDX11.

UniProtKB/Swiss-Prot: RTEL1_HUMAN, Q9NZ71
Function: ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of
genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during
meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion
events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as
disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by
counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere




(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)
About This Section

TryGeneCards Plus
Regulatory elements:
   Regulatory transcription factor binding sites in the RTEL1 gene promoter:
         AP-1   NRSF form 1   ARP-1   NF-kappaB1   NRSF form 2   Ik-1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): RTEL1 promoter sequence
   Search Chromatin IP Primers for RTEL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RTEL1


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

Entrez Gene cytogenetic band: 20q13.3   Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.3

RTEL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RTEL1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P062289:  view genomic region     (about GC identifiers)

Start:
62,289,163 bp from pter      End:
62,328,416 bp from pter
Size:
39,254 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for RTEL1

(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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: RTEL1_HUMAN, Q9NZ71 (See protein sequence)
Recommended Name: Regulator of telomere elongation helicase 1  
Size: 1219 amino acids; 133683 Da
Subunit: Interacts with TERF1. Interacts (via PIP-box) with PCNA; the interaction is direct and essential for
suppressing telomere fragility. Interacts with MMS19; the interaction mediates the association of RTEL1 with the
cytosolic iron-sulfur protein assembly (CIA) complex
Miscellaneous: Amplified in gastric tumors
Secondary accessions: A2A397 A2A398 B4DRM5 B4DYM3 B4E3N6 E1P5J4 E1P5J5 Q5JTV3 Q5JTV4 Q9BW37
Q9H402 Q9H4X6 Q9NX25 Q9NZ73 Q9UPR4 Q9Y4R6
Alternative splicing: 8 isoforms:  Q9NZ71-1   Q9NZ71-2   Q9NZ71-4   Q9NZ71-5   Q9NZ71-6   Q9NZ71-7   Q9NZ71-8   Q9NZ71-9   
(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RTEL1: NX_Q9NZ71

Explore proteomics data for RTEL1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys543, Lys626
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RTEL1 (Q9NZ71) (see all 19)
     SRTHSQL  PYNYLLD  LCIHPEV  ILDIEDL 


    See RTEL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001269938.1  NP_001269939.1  NP_057518.1  NP_116575.3  

    ENSEMBL proteins: 
     ENSP00000359035   ENSP00000424307   ENSP00000353332   ENSP00000349265   ENSP00000388063  
     ENSP00000425576   ENSP00000359020   ENSP00000322287  
    Reactome Protein details: Q9NZ71

    RTEL1 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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for RTEL1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for RTEL1
    GenScript Custom Purified and Recombinant Proteins Services for RTEL1
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RTEL1

     
    Search eBioscience for Proteins for RTEL1 

     
    Search antibodies-online for proteins for RTEL1 

     
    Search antibodies-online for peptides for RTEL1

    RTEL1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for RTEL1
    OriGene Custom Antibody Services for RTEL1
    Novus Biologicals RTEL1 Antibodies
    Abcam antibodies for RTEL1
    Cloud-Clone Corp. Antibodies for RTEL1
    Search ThermoFisher Antibodies for RTEL1
    antibodies-online antibodies for RTEL1 (8 products) 

    RTEL1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RTEL1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RTEL1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RTEL1
    Cloud-Clone Corp. CLIAs for RTEL1
    Search eBioscience for ELISAs for RTEL1 
    antibodies-online kits for RTEL1 (8 products) 


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

    TryGeneCards Plus
    Selected InterPro protein domains (see all 6):
     IPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3
     IPR027417 P-loop_NTPase
     IPR006554 Helicase-like_DEXD_c2
     IPR006555 ATP-dep_Helicase_C
     IPR010614 DEAD_2

    Graphical View of Domain Structure for InterPro Entry Q9NZ71

    ProtoNet protein and cluster: Q9NZ71

    4 Blocks protein domains:
    IPB002464 ATP-dependent helicase
    IPB006554 DEXDc2
    IPB006555 Helicase c2
    IPB010614 DEAD_2


    UniProtKB/Swiss-Prot: RTEL1_HUMAN, Q9NZ71
    Domain: The PIP-box (PCNA interacting peptide) motif mediates the interaction with PCNA and localization to
    replication foci (By similarity)
    Similarity: Belongs to the helicase family. RAD3/XPD subfamily
    Similarity: Contains 1 helicase ATP-binding domain


    Find genes that share domains with RTEL1           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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RTEL1_HUMAN, Q9NZ71
    Function: ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of
    genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during
    meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion
    events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as
    disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by
    counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0004003ATP-dependent DNA helicase activity IMP18957201
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IMP18957201
         
    Find genes that share ontologies with RTEL1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for RTEL1:
     Decreased melanin production  Synthetic lethal with Ras 

         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Rtel1):
     cardiovascular system  cellular  embryogenesis  growth/size/body  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  normal 

    Find genes that share phenotypes with RTEL1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rtel1tm1.1Hdin for RTEL1

       genOway: Develop your customized and physiologically relevant rodent model for RTEL1

    miRNA
    Products:
        
    miRTarBase miRNAs that target RTEL1:
    hsa-mir-615-3p (MIRT040125)

    Block miRNA regulation of human, mouse, rat RTEL1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate RTEL1:
    hsa-miR-2115 hsa-miR-516a-3p hsa-miR-516b*
    SwitchGear 3'UTR luciferase reporter plasmidRTEL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RTEL1
    Predesigned siRNA for gene silencing in human, mouse, rat RTEL1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RTEL1

    Clone
    Products:
         
    OriGene clones in human, mouse for RTEL1 (see all 16)
    OriGene ORF clones in mouse, rat for RTEL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RTEL1 (NM_016434)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RTEL1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RTEL1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RTEL1
    Browse ESI BIO Cell Lines and PureStem Progenitors for RTEL1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RTEL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    RTEL1_HUMAN, Q9NZ71: Nucleus (By similarity). Note=Colocalizes with PCNA within the replication foci in S-phase
    cells (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--

    Find genes that share ontologies with RTEL1           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).
    About This Section

    TryGeneCards Plus

    SuperPaths for RTEL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    2Cytosolic Iron-sulfur Cluster Assembly
    Cytosolic Iron-sulfur Cluster Assembly


    Find genes that share SuperPaths with RTEL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for RTEL1
        Cytosolic iron-sulfur cluster assembly


        Pathway & Disease-focused RT2 Profiler PCR Array including RTEL1: 
              Telomeres & Telomerase in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RTEL1

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

    Selected Interacting proteins for RTEL1 (Q9NZ713 ENSP000003533324) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VPS51Q9UID33, ENSP000002792814I2D: score=5 STRING: ENSP00000279281
    CLN3Q132863I2D: score=1 
    FASLGENSP000003566944STRING: ENSP00000356694
    TNFSF14ENSP000002459124STRING: ENSP00000245912
    TNFSF15ENSP000003631574STRING: ENSP00000363157
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723telomere maintenance ISS--
    GO:0006139nucleobase-containing compound metabolic process ----
    GO:0006281DNA repair IEA--
    GO:0010569regulation of double-strand break repair via homologous recombination IMP18957201
    GO:0032508DNA duplex unwinding IMP18957201

    Find genes that share ontologies with RTEL1           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)
    About This Section

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

    Browse Tocris compounds for RTEL1



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for RTEL1 gene (4 alternative transcripts): 
    NM_001283009.1  NM_001283010.1  NM_016434.3  NM_032957.4  

    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370018(uc011abc.2 uc002yfu.2 uc011abd.2) ENST00000508582
    ENST00000469728 ENST00000360203(uc011abe.1 uc021wge.1) ENST00000356810(uc002yfv.2)
    ENST00000488316 ENST00000463361 ENST00000425905 ENST00000496816 ENST00000370003
    ENST00000318100(uc002yfw.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RTEL1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate RTEL1:
    hsa-miR-2115 hsa-miR-516a-3p hsa-miR-516b*
    SwitchGear 3'UTR luciferase reporter plasmidRTEL1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RTEL1
    Predesigned siRNA for gene silencing in human, mouse, rat RTEL1
    Clone
    Products:
         
    OriGene clones in human, mouse for RTEL1 (see all 16)
    OriGene ORF clones in mouse, rat for RTEL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RTEL1 (NM_016434)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RTEL1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RTEL1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for RTEL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RTEL1
      QuantiTect SYBR Green Assays in human, mouse, rat RTEL1
      QuantiFast Probe-based Assays in human, mouse, rat RTEL1

    Selected AceView cDNA sequences (see all 190):

    AY124378 AI380034 BF001490 BE467871 AI304479 NM_003823 BF987793 AW955349 
    AF217795 NM_032957 AY358279 BM742134 AW135723 AU099288 BM784181 BU623385 
    NM_016434 BM756086 BQ019285 BE877829 BM784338 AF104419 AA326540 BM857412 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    RTEL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTGGTCCCT
    RTEL1 Expression
    About this image

    RTEL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RTEL1 Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Array including RTEL1: 
              Telomeres & Telomerase in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for RTEL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RTEL1
    QuantiTect SYBR Green Assays in human, mouse, rat RTEL1
    QuantiFast Probe-based Assays in human, mouse, rat RTEL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RTEL1

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RTEL1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rtel11 , 5 regulator of telomere elongation helicase 11, 5 78.38(n)1
    76.46(a)1
      2 (103.63 cM)5
    2694001  NM_001001882.31  NP_001001882.31 
     1813197395 
    chicken
    (Gallus gallus)
    Aves RTEL11 regulator of telomere elongation helicase 1 61.9(n)
    59.91(a)
      419262  XM_004947130.1  XP_004947187.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    56(a)
    1 → many
    GL343401.1(740231-824763)
    zebrafish
    (Danio rerio)
    Actinopterygii rtel11 regulator of telomere elongation helicase 1 58.28(n)
    54.61(a)
      503732  NM_001013310.2  NP_001013328.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG40781 CG4078 51.09(n)
    41.2(a)
      31497  NM_132026.2  NP_572254.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rtel-11 rtel-1 44.91(n)
    37.97(a)
      172946  NM_060368.4  NP_492769.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CHL16
    Probable DNA helicase involved in sister-chromatid...
    21(a)
    1 → many
    XVI(539385-541970) YPL008W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G799501 AT1G79950 47.14(n)
    39.03(a)
      844335  NM_106644.3  NP_178113.3 
    rice
    (Oryza sativa)
    Liliopsida Os.330162 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.66(n)    NM_192595.1 


    ENSEMBL Gene Tree for RTEL1 (if available)
    TreeFam Gene Tree for RTEL1 (if available)

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

    TryGeneCards Plus
    Paralogs for RTEL1 gene
    DDX112  BRIP12  RTEL1-TNFRSF6B2  
    5 SIMAP similar genes for RTEL1 using alignment to 3 protein entries:     RTEL1_HUMAN (see all proteins):
    RTEL1-TNFRSF6B    FLJ00362    BRIP1    CHLR1    DDX11

    Find genes that share paralogs with RTEL1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for RTEL1
    PGOHUM00000246032


    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for RTEL1 (see all 19)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0697274
    Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)4--see VAR_0697272 R W mis40--------
    VAR_0697154
    Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)4--see VAR_0697152 M I mis40--------
    VAR_0697254
    Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)4--see VAR_0697252 K E mis40--------
    VAR_0697224
    Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)4--see VAR_0697222 V M mis40--------
    VAR_0697204
    Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)4--see VAR_0697202 L R mis40--------
    VAR_0697144
    Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)4--see VAR_0697142 E K mis40--------
    VAR_0697174
    Dyskeratosis congenita, autosomal dominant, 4 (DKCA4)4--see VAR_0697172 A T mis40--------
    VAR_0697164
    Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)4--see VAR_0697162 E D mis40--------
    VAR_0697284
    Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)4--see VAR_0697282 F L mis40--------
    VAR_0697194
    Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)4--see VAR_0697192 I M mis40--------

    HapMap Linkage Disequilibrium report for RTEL1 (62289163 - 62328416 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RTEL1 (see all 33):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2722955CNV Deletion23290073
    esv2722956CNV Deletion23290073
    nsv820558CNV Deletion20802225
    esv2722958CNV Deletion23290073
    esv2006909CNV Deletion18987734
    esv2722953CNV Deletion23290073
    esv5108CNV Deletion18987735
    esv2722952CNV Deletion23290073
    esv2722954CNV Deletion23290073
    esv2722957CNV Deletion23290073

    Human Gene Mutation Database (HGMD): RTEL1
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing RTEL1
    DNA2.0 Custom Variant and Variant Library Synthesis for RTEL1

    (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

    TryGeneCards Plus
    OMIM gene information: 608833   
    OMIM disorders: 615190  
    UniProtKB/Swiss-Prot: RTEL1_HUMAN, Q9NZ71
  • Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]: A form of dyskeratosis congenita, a
    rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone
    marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal
    leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets,
    osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone
    marrow failure, infections, fatal pulmonary complications, or malignancy. DKCB5 is characterized by onset of bone
    marrow failure and immunodeficiency in early childhood. Most patients also have growth and developmental delay
    and cerebellar hypoplasia, consistent with a clinical diagnosis of Hoyeraal-Hreidarsson syndrome. Note=The
    disease is caused by mutations affecting the gene represented in this entry. RTEL1 mutations have also been found
    in patients with a dyskeratosis congenita-like phenotype consisting of one feature of dyskeratosis congenita and
    short telomeres, in the absence of the typical DKC diagnostic triad (PubMed:23329068)
  • Dyskeratosis congenita, autosomal dominant, 4 (DKCA4) [MIM:615190]: A rare multisystem disorder caused by
    defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of
    reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include
    premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among
    others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications,
    or malignancy. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for RTEL1:    
    About MalaCards
    dyskeratosis congenita, autosomal dominant 4    dyskeratosis congenita, autosomal recessive 5    dyskeratosis congenita x-linked    dyskeratosis congenita
    dental caries    dyskeratosis congenita, autosomal recessive 4

    2 diseases from the University of Copenhagen DISEASES database for RTEL1:
    Malignant glioma     Dyskeratosis congenita

    Find genes that share disorders with RTEL1           About GenesLikeMe

    Genetic Association Database (GAD): RTEL1
    Human Genome Epidemiology (HuGE) Navigator: RTEL1 (9 documents)

    Export disorders for RTEL1 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

    TryGeneCards Plus

    PubMed articles for RTEL1 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with RTEL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Overexpression of M68/DcR3 in human gastrointestinal tract tumors independent of gene amplification and its location in a four-gene cluster. (PubMed id 10655513)1, 2, 3, 9 Bai C.... Caskey C.T. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    2. Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. (PubMed id 23959892)1, 2 Deng Z....Tzfati Y. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    3. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. (PubMed id 23329068)1, 2 Ballew B.J....Savage S.A. (Hum. Genet. 2013)
    4. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. (PubMed id 23591994)1, 2 Le Guen T....Revy P. (Hum. Mol. Genet. 2013)
    5. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. (PubMed id 23453664)1, 2 Walne A.J....Dokal I. (Am. J. Hum. Genet. 2013)
    6. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. (PubMed id 24009516)1, 2 Ballew B.J.... Petrini J.H. (PLoS Genet. 2013)
    7. Chromosome 7p11.2 (EGFR) variation influences glioma risk. (PubMed id 21531791)1, 4 Sanson M....Simon M. (Hum. Mol. Genet. 2011)
    8. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1, 4 Anderson C.A....Rioux J.D. (Nat. Genet. 2011)
    9. Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk. (PubMed id 20610542)1, 4 Liu Y....Bondy M.L. (Carcinogenesis 2010)
    10. Interaction between 5 genetic variants and allergy in glioma risk. (PubMed id 20462933)1, 4 Schoemaker M.J....Swerdlow A.J. (Am. J. Epidemiol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 51750 HGNC: 15888 AceView: TNFRSF6B Ensembl:ENSG00000258366 euGenes: HUgn51750
    ECgene: RTEL1 H-InvDB: RTEL1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1088

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for RTEL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RTEL1 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

    TryGeneCards Plus
    Patent Information for RTEL1 gene:
    Search GeneIP for patents involving RTEL1

    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)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for RTEL1   OriGene RNAi products in human, mouse, rat for RTEL1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for RTEL1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for RTEL1  
     OriGene qSTAR qPCR primer pairs in human, mouse for RTEL1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for RTEL1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for RTEL1   OriGene Custom Protein Services for RTEL1  

     
     
     Block miRNA regulation of human, mouse, rat RTEL1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing RTEL1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RTEL1 Predesigned siRNA for gene silencing in human, mouse, rat RTEL1
     QuantiFast Probe-based Assays in human, mouse, rat RTEL1 QuantiTect SYBR Green Assays in human, mouse, rat RTEL1
     PCR Arrays including human, mouse, rat RTEL1 Search Chromatin IP Primers for RTEL1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RTEL1  GeneGlobe Interaction Network for RTEL1
     Regulatory tfbs in RTEL1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for RTEL1 GenScript cDNA clones with any tag delivered in your preferred vector for RTEL1
     GenScript Custom Assay Services for RTEL1 GenScript Custom overexpressing Cell Line Services for RTEL1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for RTEL1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     RTEL1 antibodies
     Antibodies for RTEL1
     See all of Abcam's Antibodies, Kits and Proteins for RTEL1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for RTEL1
     Antibodies for RTEL1
     ELISAs for RTEL1
     CLIAs for RTEL1



     Browse ESI BIO Cell Lines and PureStem Progenitors for RTEL1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RTEL1
     SwitchGear 3'UTR luciferase reporter plasmids for RTEL1
     SwitchGear Promoter luciferase reporter plasmids for RTEL1
     Search ThermoFisher Antibodies for RTEL1
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RTEL1
     Browse compounds at ApexBio
     Search Addgene for plasmids for RTEL1
      Search eBioscience for proteins for RTEL1
      Search eBioscience for elisas for RTEL1
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for RTEL1
     antibodies-online antibodies for RTEL1 (8 products)
     antibodies-online kits for RTEL1 (8 products)
      Search antibodies-online for peptides for RTEL1
      Search antibodies-online for proteins for RTEL1
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      RTEL1 gene at Home site.
    Version: 3.12.250 16 Nov 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4