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GLE1 Gene

protein-coding   GIFtS: 56
GCID: GC09P131266

GLE1 RNA Export Mediator

(Previous names: GLE1 (yeast homolog)-like, RNA export mediator, GLE1 RNA...)
(Previous symbols: GLE1L, LCCS1)
  See GLE1-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
GLE1 RNA Export Mediator1 2     GLE1 RNA Export Mediator (Yeast)1
GLE1L1 2 3 5     GLE1 RNA Export Mediator Homolog (Yeast)1
LCCS11 2 5     GLE1 RNA Export Mediator-Like (Yeast)1
GLE1-Like Protein2 3     Lethal Congenital Contracture Syndrome 11
hGLE12 3     GLE1 RNA Export Mediator Homolog2
LCCS2 5     GLE1-Like, RNA Export Mediator2
GLE1 (Yeast Homolog)-Like, RNA Export Mediator1     Nucleoporin GLE12

External Ids:    HGNC: 43151   Entrez Gene: 27332   Ensembl: ENSG000001193927   OMIM: 6033715   UniProtKB: Q53GS73   

Export aliases for GLE1 gene to outside databases

Previous GC identifers: GC09P130308 GC09P100879


(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 GLE1 Gene:
This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which
is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of
human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA
export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization
suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two
alternatively spliced transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Jul 2008)

GeneCards Summary for GLE1 Gene:
GLE1 (GLE1 RNA export mediator) is a protein-coding gene. Diseases associated with GLE1 include lethal congenital contracture syndrome 1, and lethal arthrogryposis with anterior horn cell disease.

UniProtKB/Swiss-Prot: GLE1_HUMAN, Q53GS7
Function: Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be
involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC)

Gene Wiki entry for GLE1 (GLE1L) 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_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GLE1 gene promoter:
         Max1   ISGF-3   HSF1 (long)   AP-4   LCR-F1   GATA-2   STAT3   HSF1short   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGLE1 promoter sequence
   Search Chromatin IP Primers for GLE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GLE1


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

Entrez Gene cytogenetic band: 9q34.11   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.13

GLE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLE1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P131266:  view genomic region     (about GC identifiers)

Start:
131,266,971 bp from pter      End:
131,304,580 bp from pter
Size:
37,610 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GLE1_HUMAN, Q53GS7 (See protein sequence)
Recommended Name: Nucleoporin GLE1  
Size: 698 amino acids; 79836 Da
Subunit: Associated with the NPC, it however may not be a stable component of the NPC complex since it shuttles
between the nucleus and the cytoplasm. Interacts with nuclear pore complex proteins NUP155 and NUPL2. Isoform 2
does not interact with NUPL2. Able to form a heterotrimer with NUP155 and NUPL2 in vitro
Secondary accessions: O75458 Q53GT9 Q5VVU1 Q8NCP6 Q9UFL6
Alternative splicing: 2 isoforms:  Q53GS7-1   Q53GS7-2   (Major isoform)

Explore the universe of human proteins at neXtProt for GLE1: NX_Q53GS7

Explore proteomics data for GLE1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys170, Lys424, Lys479, Lys539, Lys688
  • Modification sites at PhosphoSitePlus

  • See GLE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001003722.1  NP_001490.1  

    ENSEMBL proteins: 
     ENSP00000308622   ENSP00000361856   ENSP00000438670  

    GLE1 Human Recombinant Protein Products:

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    Novus Biologicals GLE1 Proteins
    Novus Biologicals GLE1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for GLE1 

    GLE1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GLE1
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    LSBio Antibodies in human, mouse, rat for GLE1

    GLE1 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for GLE1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR012476 GLE1

    Graphical View of Domain Structure for InterPro Entry Q53GS7

    ProtoNet protein and cluster: Q53GS7

    1 Blocks protein domain: IPB012476 GLE1-like

    UniProtKB/Swiss-Prot: GLE1_HUMAN, Q53GS7
    Similarity: Belongs to the GLE1 family


    Find genes that share domains with GLE1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, 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: GLE1_HUMAN, Q53GS7
    Function: Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be
    involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18724935
    GO:0042802identical protein binding IPI--
         
    Find genes that share ontologies with GLE1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for GLE1:
     Decreased viability of wild-ty  Nuclear 60S biogenesis defects  Nucleolar pre-40S maturation d  Wnt reporter downregulated 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Gle1):
     mortality/aging 

    Find genes that share phenotypes with GLE1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GLE1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GLE1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GLE1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GLE1

    miRNA
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    miRTarBase miRNAs that target GLE1:
    hsa-mir-33a-5p (MIRT028211), hsa-mir-130b-3p (MIRT020250)

    Block miRNA regulation of human, mouse, rat GLE1 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate GLE1:
    hsa-miR-513b hsa-miR-1271 hsa-miR-876-5p hsa-miR-96 hsa-miR-626 hsa-miR-3167 hsa-miR-150
    SwitchGear 3'UTR luciferase reporter plasmidGLE1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for GLE1
    Predesigned siRNA for gene silencing in human, mouse, rat GLE1

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    GenScript: all cDNA clones in your preferred vector (see all 2): GLE1 (NM_001499)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GLE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLE1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLE1


    (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
    GLE1_HUMAN, Q53GS7: Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm. Shuttling is
    essential for its mRNA export function
    GLE1_HUMAN, Q53GS7: Isoform 1: Cytoplasm. Nucleus, nuclear pore complex. Note=Shuttles between the nucleus and
    the cytoplasm. In the nucleus, isoform 1 localizes to the nuclear pore complex and nuclear envelope. Shuttling is
    essential for its mRNA export function
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    plasma membrane3
    endoplasmic reticulum2
    golgi apparatus2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005643nuclear pore IEA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--

    Find genes that share ontologies with GLE1           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GLE1
    Interactions:

        GeneGlobe Interaction Network for GLE1

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

    Selected Interacting proteins for GLE1 (Q53GS73 ENSP000003086224) via UniProtKB, MINT, STRING, and/or I2D (see all 78)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF3FO003033, ENSP000003100404I2D: score=2 STRING: ENSP00000310040
    KRT10P136453, ENSP000002695764I2D: score=1 STRING: ENSP00000269576
    NUP155O756943, ENSP000002314984I2D: score=3 STRING: ENSP00000231498
    NUPL2O155043, ENSP000002587424I2D: score=2 STRING: ENSP00000258742
    UXTQ9UBK93, ENSP000003373934I2D: score=1 STRING: ENSP00000337393
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006406mRNA export from nucleus TAS9618489
    GO:0015031protein transport IEA--
    GO:0016973poly(A)+ mRNA export from nucleus IEA--

    Find genes that share ontologies with GLE1           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 GLE1



    (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 GLE1 gene (2 alternative transcripts): 
    NM_001003722.1  NM_001499.2  

    Unigene Cluster for GLE1:

    GLE1 RNA export mediator homolog (yeast)
    Hs.522418  [show with all ESTs]
    Unigene Representative Sequence: NM_001003722
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000309971(uc004bvj.3 uc010myd.3) ENST00000372770(uc004bvi.3)
    ENST00000494417 ENST00000539582
    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate GLE1:
    hsa-miR-513b hsa-miR-1271 hsa-miR-876-5p hsa-miR-96 hsa-miR-626 hsa-miR-3167 hsa-miR-150
    SwitchGear 3'UTR luciferase reporter plasmidGLE1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GLE1
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GLE1 (NM_001499)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GLE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLE1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for GLE1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GLE1
      QuantiTect SYBR Green Assays in human, mouse, rat GLE1
      QuantiFast Probe-based Assays in human, mouse, rat GLE1

    Additional mRNA sequence: 

    AF058922.1 AK001767.1 AK074801.1 AK222842.1 AK222854.1 AK290533.1 AL117584.1 BC030012.1 

    11 DOTS entries:

    DT.441217  DT.100780742  DT.100780735  DT.91837071  DT.97804572  DT.75155380  DT.95376090  DT.102828136 
    DT.91766347  DT.91896451  DT.121202734 

    Selected AceView cDNA sequences (see all 189):

    AL560155 NM_001499 AI018398 F10322 BF447328 BQ421949 AI638714 AA806769 
    BM713447 AW304413 BX119420 BF917861 BQ937741 AA496986 BX095093 BX415955 
    AW771241 AL117584 BI059723 AW575488 AA936076 CA438351 AA347156 BQ051213 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GLE1 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15 ^
    SP1:                          -     -     -     -     -                             -     -     -                                                           -   
    SP2:                          -     -     -     -     -                             -     -     -                                                           -   
    SP3:                          -     -     -     -                                   -     -     -                                                               
    SP4:                                                                                -     -     -     -     -                                                   
    SP5:                                                                                                                                                            

    ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22
    SP1:                                -               
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for GLE1

    (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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    GLE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATCTGTTCC
    GLE1 Expression
    About this image


    GLE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Eye (Sensory Organs)
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    GLE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GLE1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522418
        Custom PCR Arrays for GLE1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLE1

    (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 animals and fungi.

    Orthologs for GLE1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gle11 , 5 GLE1 RNA export mediator (yeast)1, 5 84.08(n)1
    83.88(a)1
      2 (20.88 cM)5
    744121  NM_028923.31  NP_083199.11 
     299354265 
    chicken
    (Gallus gallus)
    Aves GLE11 GLE1 RNA export mediator 66.27(n)
    62.06(a)
      417212  XM_004945834.1  XP_004945891.1 
    lizard
    (Anolis carolinensis)
    Reptilia GLE16
    GLE1 RNA export mediator
    58(a)
    1 ↔ 1
    GL344038.1(52434-78241)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.7602 Transcribed sequence with weak similarity to protein more 76.64(n)    CF150538.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gle11 GLE1 RNA export mediator homolog (yeast) 58.88(n)
    52.23(a)
      445408  NM_001003885.1  NP_001003885.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG147496
    --
    23(a)
    1 ↔ 1
    2R(4515382-4517691)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GLE1(YDL207W)4 Cytoplasmic nucleoporin required for polyadenylated more   --   4(88248-89864) 851320  NP_010074.1 


    ENSEMBL Gene Tree for GLE1 (if available)
    TreeFam Gene Tree for GLE1 (if available)

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GLE1 (see all 886)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0438764
    Lethal arthrogryposis with anterior horn cell disease (LAAHD)4--see VAR_0438762 V M mis40--------
    VAR_0438754
    Lethal congenital contracture syndrome 1 (LCCS1)4--see VAR_0438752 R H mis40--------
    VAR_0438774
    Lethal arthrogryposis with anterior horn cell disease (LAAHD)4--see VAR_0438772 I T mis40--------
    rs1214344071,2
    C,Fpathogenic1131311343(+) AAAACG/ACATGT 4 /H /R mis11Minor allele frequency- A:0.00NA 4550
    rs1880531831,2
    --131264980(+) CGAGGC/TGGGTG 2 -- us2k10--------
    rs1819412761,2
    C--131265046(+) CTCTAC/GTAAAA 2 -- us2k10--------
    rs1861986871,2
    --131265066(+) TTAGCC/TGGGAG 2 -- us2k10--------
    rs1474868991,2
    --131265077(+) TGGTGA/GTGGAC 2 -- us2k10--------
    rs1917022831,2
    --131265217(+) AAAGAC/TAAAGT 2 -- us2k10--------
    rs724294941,2
    C--131265560(+) GATTA-/ACAGG 
    CGTGAGCC
    CGGCA
    2 -- us2k10--------

    HapMap Linkage Disequilibrium report for GLE1 (131266971 - 131304580 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GLE1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2618000CNV Deletion19546169
    dgv8294n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): GLE1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GLE1
    DNA2.0 Custom Variant and Variant Library Synthesis for GLE1

    (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.)
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    OMIM gene information: 603371   
    OMIM disorders: 253310  611890  
    UniProtKB/Swiss-Prot: GLE1_HUMAN, Q53GS7
  • Lethal congenital contracture syndrome 1 (LCCS1) [MIM:253310]: A form of lethal congenital contracture
    syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme
    skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can
    involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension
    limitations evident at birth. LCCS1 patients manifest early fetal hydrops and akinesia, micrognathia, pulmonary
    hypoplasia, pterygia, and multiple joint contractures. It leads to prenatal death. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890]: A disorder characterized by
    fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a
    result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture
    syndrome type 1, but are less severe. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 4 diseases for GLE1:    
    About MalaCards
    lethal congenital contracture syndrome 1    lethal arthrogryposis with anterior horn cell disease    anterior horn cell disease    congenital contractures

    1 disease from the University of Copenhagen DISEASES database for GLE1:
    Lymphangioleiomyomatosis

    Find genes that share disorders with GLE1           About GenesLikeMe

    Genetic Association Database (GAD): GLE1
    Human Genome Epidemiology (HuGE) Navigator: GLE1 (1 document)

    Export disorders for GLE1 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 GLE1 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with GLE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. (PubMed id 18204449)1, 2, 3 Nousiainen H.O.... Peltonen L. (Nat. Genet. 2008)
    2. The human homologue of Saccharomyces cerevisiae Gle1p is required for poly(A)+ RNA export. (PubMed id 9618489)1, 2, 3 Watkins J.L.... Wente S.R. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    3. An essential role for hGle1 nucleocytoplasmic shuttling in mRNA export. (PubMed id 12668658)1, 2, 9 Kendirgi F.... Wente S.R. (J. Cell Biol. 2003)
    4. The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155. (PubMed id 14645504)1, 2, 9 Rayala H.J.... Wente S.R. (Mol. Cell. Proteomics 2004)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Interaction between the shuttling mRNA export factor Gle1 and the nucleoporin hCG1: a conserved mechanism in the export of Hsp70 mRNA. (PubMed id 16000379)1, 2 Kendirgi F.... Wente S.R. (Mol. Biol. Cell 2005)
    7. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    8. 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)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. (PubMed id 24144296)1 Cheng C.Y....Baird P.N. (Am. J. Hum. Genet. 2013)

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

      Query String
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    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: 2733 HGNC: 4315 AceView: GLE1L Ensembl:ENSG00000119392 euGenes: HUgn2733
    ECgene: GLE1 H-InvDB: GLE1

    (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 GLE1 Pharmacogenomics, SNPs, Pathways

    (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 GLE1 gene:
    Search GeneIP for patents involving GLE1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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