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Aliases for GLE1 Gene

Aliases for GLE1 Gene

  • GLE1, RNA Export Mediator 2 3 5
  • GLE1-Like Protein 3 4
  • GLE1L 3 4
  • HGLE1 3 4
  • GLE1 (Yeast Homolog)-Like, RNA Export Mediator 2
  • Lethal Congenital Contracture Syndrome 1 2
  • GLE1 RNA Export Mediator Homolog (Yeast) 2
  • GLE1 RNA Export Mediator-Like (Yeast) 2
  • GLE1 RNA Export Mediator (Yeast) 2
  • GLE1 RNA Export Mediator Homolog 3
  • GLE1-Like, RNA Export Mediator 3
  • LCCS1 3
  • LCCS 3

External Ids for GLE1 Gene

Previous HGNC Symbols for GLE1 Gene

  • GLE1L
  • LCCS1

Previous GeneCards Identifiers for GLE1 Gene

  • GC09P130308
  • GC09P131266
  • GC09P100879

Summaries for GLE1 Gene

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 arthrogryposis, lethal, with anterior horn cell disease. GO annotations related to this gene include identical protein binding.

UniProtKB/Swiss-Prot for GLE1 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLE1 Gene

Genomics for GLE1 Gene

Regulatory Elements for GLE1 Gene

Enhancers for GLE1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GLE1 on UCSC Golden Path with GeneCards custom track

Promoters for GLE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GLE1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GLE1 Gene

Chromosome:
9
Start:
128,504,692 bp from pter
End:
128,542,301 bp from pter
Size:
37,610 bases
Orientation:
Plus strand

Genomic View for GLE1 Gene

Genes around GLE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLE1 Gene

Proteins for GLE1 Gene

  • Protein details for GLE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53GS7-GLE1_HUMAN
    Recommended name:
    Nucleoporin GLE1
    Protein Accession:
    Q53GS7
    Secondary Accessions:
    • O75458
    • Q53GT9
    • Q5VVU1
    • Q8NCP6
    • Q9UFL6

    Protein attributes for GLE1 Gene

    Size:
    698 amino acids
    Molecular mass:
    79836 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for GLE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLE1 Gene

Proteomics data for GLE1 Gene at MOPED

Post-translational modifications for GLE1 Gene

  • Ubiquitination at Lys 170, Lys 424, Lys 479, Lys 539, and Lys 688
  • Modification sites at PhosphoSitePlus

Other Protein References for GLE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GLE1 Gene

Domains & Families for GLE1 Gene

Gene Families for GLE1 Gene

Protein Domains for GLE1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GLE1 Gene

Graphical View of Domain Structure for InterPro Entry

Q53GS7

UniProtKB/Swiss-Prot:

GLE1_HUMAN :
  • Belongs to the GLE1 family.
Family:
  • Belongs to the GLE1 family.
genes like me logo Genes that share domains with GLE1: view

Function for GLE1 Gene

Molecular function for GLE1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for GLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18724935
GO:0042802 identical protein binding IPI 24243016
genes like me logo Genes that share ontologies with GLE1: view
genes like me logo Genes that share phenotypes with GLE1: view

Human Phenotype Ontology for GLE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GLE1 Gene

MGI Knock Outs for GLE1:
  • Gle1 tm1a(EUCOMM)Wtsi

Animal Model Products

miRNA for GLE1 Gene

miRTarBase miRNAs that target GLE1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GLE1 Gene

Localization for GLE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLE1 Gene

Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm (PubMed:12668658). Shuttling is essential for its mRNA export function (PubMed:12668658). {ECO:0000269 PubMed:12668658}.
Isoform 1: Cytoplasm. Nucleus, nuclear pore complex. Note=Shuttles between the nucleus and the cytoplasm (PubMed:12668658). In the nucleus, isoform 1 localizes to the nuclear pore complex and nuclear envelope (PubMed:12668658). Shuttling is essential for its mRNA export function (PubMed:12668658). {ECO:0000269 PubMed:12668658}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GLE1 Gene COMPARTMENTS Subcellular localization image for GLE1 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5
cytosol 3
endoplasmic reticulum 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for GLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044614 nuclear pore cytoplasmic filaments IBA --
genes like me logo Genes that share ontologies with GLE1: view

Pathways & Interactions for GLE1 Gene

SuperPathways for GLE1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006406 mRNA export from nucleus TAS 9618489
genes like me logo Genes that share ontologies with GLE1: view

No data available for Pathways by source and SIGNOR curated interactions for GLE1 Gene

Drugs & Compounds for GLE1 Gene

No Compound Related Data Available

Transcripts for GLE1 Gene

Unigene Clusters for GLE1 Gene

GLE1 RNA export mediator homolog (yeast):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GLE1 Gene

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:
SP6: - - - - - - - - - -
SP7: - - -
SP8: - -
SP9: - - - - -
SP10: -
SP11:

ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for GLE1 Gene

GeneLoc Exon Structure for
GLE1
ECgene alternative splicing isoforms for
GLE1

Expression for GLE1 Gene

mRNA expression in normal human tissues for GLE1 Gene

Protein differential expression in normal tissues from HIPED for GLE1 Gene

This gene is overexpressed in Liver (42.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GLE1 Gene



SOURCE GeneReport for Unigene cluster for GLE1 Gene Hs.522418

genes like me logo Genes that share expression patterns with GLE1: view

Protein tissue co-expression partners for GLE1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GLE1 Gene

Orthologs for GLE1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GLE1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GLE1 35
  • 87.97 (n)
  • 86.96 (a)
GLE1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLE1 35
  • 88.01 (n)
  • 87.11 (a)
GLE1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gle1 35
  • 84.08 (n)
  • 83.88 (a)
Gle1 16
Gle1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GLE1 35
  • 99.33 (n)
  • 99.14 (a)
GLE1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gle1 35
  • 84.25 (n)
  • 84.73 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 68 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia GLE1 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLE1 35
  • 66.27 (n)
  • 62.06 (a)
GLE1 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLE1 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gle1 35
  • 58.26 (n)
  • 51.76 (a)
Str.760 35
zebrafish
(Danio rerio)
Actinopterygii gle1 35
  • 58.88 (n)
  • 52.23 (a)
gle1 36
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14749 36
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLE1 36
  • 21 (a)
OneToOne
GLE1 38
Species with no ortholog for GLE1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GLE1 Gene

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

Paralogs for GLE1 Gene

No data available for Paralogs for GLE1 Gene

Variants for GLE1 Gene

Sequence variations from dbSNP and Humsavar for GLE1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs17852725 - 128,515,596(+) GGAAG(A/C/G)CTGCG reference, missense, utr-variant-5-prime
rs2275260 - 128,523,676(+) GCCAG(A/G)TCCGC reference, missense, utr-variant-5-prime
VAR_024058 -
VAR_043875 Lethal congenital contracture syndrome 1 (LCCS1)
VAR_043876 Lethal arthrogryposis with anterior horn cell disease (LAAHD)

Structural Variations from Database of Genomic Variants (DGV) for GLE1 Gene

Variant ID Type Subtype PubMed ID
dgv8294n71 CNV Loss 21882294
esv2618000 CNV Deletion 19546169

Variation tolerance for GLE1 Gene

Residual Variation Intolerance Score: 11.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.10; 75.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLE1 Gene

HapMap Linkage Disequilibrium report
GLE1
Human Gene Mutation Database (HGMD)
GLE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLE1 Gene

Disorders for GLE1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for GLE1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lethal congenital contracture syndrome 1
  • lethal autosomal recessive syndrome of multiple congenital contractures
arthrogryposis, lethal, with anterior horn cell disease
  • lethal arthrogryposis with anterior horn cell disease
anterior horn cell disease
lethal congenital contracture syndrome
  • lethal congenital contracture syndrome 1
splenic flexure cancer
  • ca splenic flexure - colon
- elite association - COSMIC cancer census association via MalaCards
Search GLE1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLE1_HUMAN
  • 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. {ECO:0000269 PubMed:18204449}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:18204449}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GLE1

Genetic Association Database (GAD)
GLE1
Human Genome Epidemiology (HuGE) Navigator
GLE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLE1
genes like me logo Genes that share disorders with GLE1: view

No data available for Genatlas for GLE1 Gene

Publications for GLE1 Gene

  1. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. (PMID: 18204449) Nousiainen H.O. … Peltonen L. (Nat. Genet. 2008) 2 3 4 67
  2. The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155. (PMID: 14645504) Rayala H.J. … Wente S.R. (Mol. Cell. Proteomics 2004) 3 23
  3. An essential role for hGle1 nucleocytoplasmic shuttling in mRNA export. (PMID: 12668658) Kendirgi F. … Wente S.R. (J. Cell Biol. 2003) 3 23
  4. The human homologue of Saccharomyces cerevisiae Gle1p is required for poly(A)+ RNA export. (PMID: 9618489) Watkins J.L. … Wente S.R. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3
  5. Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. (PMID: 25343993) Kaneb H.M. … Dion P.A. (Hum. Mol. Genet. 2015) 3

Products for GLE1 Gene

Sources for GLE1 Gene

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