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Aliases for GLE1 Gene

Aliases for GLE1 Gene

  • GLE1 RNA Export Mediator 2 3
  • GLE1L 3 4 6
  • GLE1-Like Protein 3 4
  • LCCS1 3 6
  • HGLE1 3 4
  • LCCS 3 6
  • 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
  • Nucleoporin GLE1 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.

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

Genomic Location for GLE1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys170, Lys424, Lys479, Lys539, and Lys688
  • Modification sites at PhosphoSitePlus

Other Protein References for GLE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GLE1 Gene

Domains 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 :
  • Q53GS7
Family:
  • Belongs to the GLE1 family.
genes like me logo Genes that share domains with GLE1: view

No data available for Gene Families for GLE1 Gene

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

Animal Model Products

CRISPR Products

miRNA for GLE1 Gene

miRTarBase miRNAs that target GLE1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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. Shuttling is essential for its mRNA export function.
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
Jensen Localization Image for GLE1 Gene COMPARTMENTS Subcellular localization image for GLE1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 3
endoplasmic reticulum 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for GLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005643 nuclear pore IEA --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with GLE1: view

Pathways 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
GO:0015031 protein transport IEA --
GO:0016973 poly(A)+ mRNA export from nucleus IEA --
genes like me logo Genes that share ontologies with GLE1: view

No data available for Pathways by source for GLE1 Gene

Transcripts for GLE1 Gene

Unigene Clusters for GLE1 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GLE1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for GLE1

Flow Cytometry Products

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with GLE1: view

In Situ Assay Products

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia GLE1 35
  • 99.33 (n)
  • 99.14 (a)
GLE1 36
  • 99 (a)
OneToOne
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
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
rat
(Rattus norvegicus)
Mammalia Gle1 35
  • 84.25 (n)
  • 84.73 (a)
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 MAF
rs869455 -- 128,527,321(+) ATTTT(G/T)TGGAC intron-variant
rs2275260 - 128,523,676(+) GCCAG(A/G)TCCGC reference, missense, utr-variant-5-prime
rs4388551 -- 128,506,956(+) ATCTC(C/T)GAACT intron-variant, upstream-variant-2KB
rs4614100 -- 128,508,201(+) aaaga(C/T)cagcc intron-variant, upstream-variant-2KB
rs6478834 -- 128,507,134(+) gatct(G/T)gtact intron-variant, upstream-variant-2KB

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

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

(2) OMIM Diseases for GLE1 Gene (603371)

UniProtKB/Swiss-Prot

GLE1_HUMAN
  • 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.
  • 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.

(1) University of Copenhagen DISEASES for GLE1 Gene

Relevant External Links for GLE1

Genetic Association Database (GAD)
GLE1
Human Genome Epidemiology (HuGE) Navigator
GLE1
genes like me logo Genes that share disorders with GLE1: view

Publications for GLE1 Gene

  1. An essential role for hGle1 nucleocytoplasmic shuttling in mRNA export. (PMID: 12668658) Kendirgi F. … Wente S.R. (J. Cell Biol. 2003) 3 4 23
  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 4 23
  3. 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 4
  4. 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
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4

Products for GLE1 Gene

Sources for GLE1 Gene

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