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

Gene ID: 2733, updated on 2-Nov-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
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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 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)

Genotypes

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
    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

  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

    Related
    ENST00000684210.1

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

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

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

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

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

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

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

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

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