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    GLE1 GLE1 RNA export mediator [ Homo sapiens (human) ]

    Gene ID: 2733, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GLE1provided by HGNC
    Official Full Name
    GLE1 RNA export mediatorprovided by HGNC
    Primary source
    HGNC:HGNC:4315
    See related
    Ensembl:ENSG00000119392 MIM:603371; AllianceGenome:HGNC:4315
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LCCS; CAAHC; CAAHD; GLE1L; LCCS1; hGLE1
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 19.5), lymph node (RPKM 9.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GLE1 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128504692..128542288)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140711552..140749139)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131266971..131304567)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131234689-131235190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131235191-131235690 Neighboring gene uncharacterized LOC124902281 Neighboring gene outer dense fiber of sperm tails 2 Neighboring gene ODF2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131257065-131257565 Neighboring gene Sharpr-MPRA regulatory region 9551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29084 Neighboring gene uncharacterized LOC101929270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20345 Neighboring gene RNA, U7 small nuclear 171 pseudogene Neighboring gene Sharpr-MPRA regulatory region 290 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:131317315-131317814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29085 Neighboring gene spectrin alpha, non-erythrocytic 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131389301-131389946 Neighboring gene dynein 2 intermediate chain 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. Smith C, et al. Clin Genet, 2017 Mar. PMID 27684565
    2. Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis. Folkmann AW, et al. Adv Biol Regul, 2014 Jan. PMID 24275432, Free PMC Article
    3. Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. Cerino M, et al. Mol Genet Genomic Med, 2020 Aug. PMID 32537934, Free PMC Article
    4. Screening of GLE1 mutations in Chinese amyotrophic lateral sclerosis patients. Zhang K, et al. Neurobiol Aging, 2018 Jun. PMID 29398120
    5. An amyotrophic lateral sclerosis-linked mutation in GLE1 alters the cellular pool of human Gle1 functional isoforms. Aditi, et al. Adv Biol Regul, 2016 Sep. PMID 26776475, Free PMC Article

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phosphorylation impacts GLE1 nuclear localization and association with DDX1.
      Title: Phosphorylation impacts GLE1 nuclear localization and association with DDX1.
    2. Biallelic variants in GLE1 with survival beyond neonatal period.
      Title: Biallelic variants in GLE1 with survival beyond neonatal period.
    3. Nucleocytoplasmic shuttling of Gle1 impacts DDX1 at transcription termination sites.
      Title: Nucleocytoplasmic shuttling of Gle1 impacts DDX1 at transcription termination sites.
    4. Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.
      Title: Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.
    5. Functions of Gle1 are governed by two distinct modes of self-association.
      Title: Functions of Gle1 are governed by two distinct modes of self-association.
    6. This study supports models wherein SGs play a role in cell evasion of apoptosis and further reveal Gle1A and SG functions as targets for clinical approaches directed at chemoresistant/refractory cells.
      Title: Gle1 mediates stress granule-dependent survival during chemotoxic stress.
    7. Results found that Nup159 did not accelerate ADP release, while Gle1 actually slowed it independently of Mg(2+) which is not consistent with Nup159 acting as a nucleotide exchange factor to promote ADP release and Dbp5 ATPase cycling. Instead, in the presence of Nup159, the interaction between Gle1 and ADP-bound Dbp5 was found more reduced, suggesting that Nup159 alters the Dbp5-Gle1 to aid Gle1 release from Dbp5.
      Title: Nup159 Weakens Gle1 Binding to Dbp5 But Does Not Accelerate ADP Release.
    8. Mitogen-activated protein kinases and glycogen synthase kinase 3 phosphorylate Gle1A and thereby coordinate stress granule dynamics by altering DDX3 function.
      Title: MAPK- and glycogen synthase kinase 3-mediated phosphorylation regulates the DEAD-box protein modulator Gle1 for control of stress granule dynamics.
    9. preliminary data show an intriguing expression profile of Gle1, MART3 and FUS genes in Spinal muscular atrophy (SMA), and suggest a critical role of FUS protein in the SMA pathogenesis.
      Title: The expression of SMN1, MART3, GLE1 and FUS genes in spinal muscular atrophy.
    10. Pathogenic variants in the GLE1 gene are rare in Chinese ALS patients.
      Title: Screening of GLE1 mutations in Chinese amyotrophic lateral sclerosis patients.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Lethal arthrogryposis-anterior horn cell disease syndrome
    MedGen: C5193016 OMIM: 611890 GeneReviews: Not available
    		Compare labs
    Lethal congenital contracture syndrome 1
    MedGen: C1854664 OMIM: 253310 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables inositol hexakisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables translation initiation factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in mRNA export from nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in nucleocytoplasmic transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in poly(A)+ mRNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular space HDA PubMed 
    located_in membrane HDA PubMed 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    part_of nuclear pore NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of nuclear pore cytoplasmic filaments IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    mRNA export factor GLE1
    Names
    GLE1 RNA export mediator homolog
    GLE1-like protein
    GLE1-like, RNA export mediator
    nucleoporin GLE1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012073.1 RefSeqGene

      Range
      5001..42610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_484

    mRNA and Protein(s)

    1. NM_001003722.2 → NP_001003722.1  mRNA export factor GLE1 isoform 1

      See identical proteins and their annotated locations for NP_001003722.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AA806769, AF058922, AL117584, BM786801
      Consensus CDS
      CCDS35154.1
      UniProtKB/Swiss-Prot
      O75458, Q53GS7, Q53GT9, Q5VVU1, Q8NCP6, Q9UFL6
      UniProtKB/TrEMBL
      A0A804HJB3
      Related
      ENSP00000308622.5, ENST00000309971.9
      Conserved Domains (1) summary
      pfam07817
      Location:410 → 647
      GLE1; GLE1-like protein

    2. NM_001411013.1 → NP_001397942.1  mRNA export factor GLE1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AL356481, AL445287
      Consensus CDS
      CCDS94499.1
      UniProtKB/TrEMBL
      A0A804HJ70, A0A804HJB3
      Related
      ENSP00000507377.1, ENST00000683748.1

    3. NM_001499.2 → NP_001490.1  mRNA export factor GLE1 isoform 2

      See identical proteins and their annotated locations for NP_001490.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 3' sequence, as compared to variant 1. The encoded isoform 2 has a shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AF058922, AK001767, AK074801, BC030012, BM786801
      Consensus CDS
      CCDS6904.1
      UniProtKB/TrEMBL
      A0A804HJB3
      Related
      ENSP00000361856.4, ENST00000372770.4
      Conserved Domains (1) summary
      pfam07817
      Location:410 → 647
      GLE1; GLE1-like protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      128504692..128542288
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717060.4 → XP_006717123.1  mRNA export factor GLE1 isoform X2

      UniProtKB/TrEMBL
      A0A804HJB3
      Conserved Domains (2) summary
      pfam07817
      Location:413 → 650
      GLE1; GLE1-like protein
      cl25732
      Location:150 → 357
      SMC_N; RecF/RecN/SMC N terminal domain

    2. XM_024447519.2 → XP_024303287.1  mRNA export factor GLE1 isoform X2

      UniProtKB/TrEMBL
      A0A804HJB3
      Conserved Domains (2) summary
      pfam07817
      Location:413 → 650
      GLE1; GLE1-like protein
      cl25732
      Location:150 → 357
      SMC_N; RecF/RecN/SMC N terminal domain

    3. XM_047423234.1 → XP_047279190.1  mRNA export factor GLE1 isoform X2

      UniProtKB/TrEMBL
      A0A804HJB3

    4. XM_011518549.2 → XP_011516851.1  mRNA export factor GLE1 isoform X1

      See identical proteins and their annotated locations for XP_011516851.1

      UniProtKB/TrEMBL
      A0A804HJB3
      Conserved Domains (1) summary
      pfam07817
      Location:413 → 659
      GLE1; GLE1-like protein

    5. XM_011518550.2 → XP_011516852.1  mRNA export factor GLE1 isoform X1

      See identical proteins and their annotated locations for XP_011516852.1

      UniProtKB/TrEMBL
      A0A804HJB3
      Conserved Domains (1) summary
      pfam07817
      Location:413 → 659
      GLE1; GLE1-like protein

    6. XM_047423236.1 → XP_047279192.1  mRNA export factor GLE1 isoform X4

      UniProtKB/TrEMBL
      B3KMG0
      Related
      ENST00000684210.1

    7. XM_047423235.1 → XP_047279191.1  mRNA export factor GLE1 isoform X3

      UniProtKB/TrEMBL
      B3KMG0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      140711552..140749139
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362748.1 → XP_054218723.1  mRNA export factor GLE1 isoform X2

      UniProtKB/TrEMBL
      A0A804HJB3

    2. XM_054362747.1 → XP_054218722.1  mRNA export factor GLE1 isoform X2

      UniProtKB/TrEMBL
      A0A804HJB3

    3. XM_054362745.1 → XP_054218720.1  mRNA export factor GLE1 isoform X1

      UniProtKB/TrEMBL
      A0A804HJB3

    4. XM_054362746.1 → XP_054218721.1  mRNA export factor GLE1 isoform X1

      UniProtKB/TrEMBL
      A0A804HJB3

    5. XM_054362750.1 → XP_054218725.1  mRNA export factor GLE1 isoform X4

      UniProtKB/TrEMBL
      B3KMG0

    6. XM_054362749.1 → XP_054218724.1  mRNA export factor GLE1 isoform X3

      UniProtKB/TrEMBL
      B3KMG0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53GS7.2 GenPept UniProtKB/Swiss-Prot:Q53GS7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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