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 G... See more...

Aliases for GLE1 Gene

Aliases for GLE1 Gene

  • GLE1 RNA Export Mediator 2 3 5
  • HGLE1 2 3 4
  • GLE1-Like Protein 3 4
  • Nucleoporin GLE1 3 4
  • GLE1L 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
  • GLE1 RNA Export Mediator-Like 3
  • GLE1, RNA Export Mediator 2
  • CAAHC 3
  • CAAHD 3
  • LCCS1 3
  • LCCS 3
  • GLE1 5

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 Congenital Arthrogryposis With Anterior Horn Cell Disease. Gene Ontology (GO) annotations related to this gene include identical protein binding.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLE1 Gene

Genomics for GLE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GLE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLE1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLE1

Top Transcription factor binding sites by QIAGEN in the GLE1 gene promoter:
  • AP-4
  • GATA-2
  • HSF1 (long)
  • HSF1short
  • IRF-7A
  • ISGF-3
  • LCR-F1
  • Max1
  • STAT3

Genomic Locations for GLE1 Gene

Genomic Locations for GLE1 Gene
chr9:128,504,692-128,542,292
(GRCh38/hg38)
Size:
37,601 bases
Orientation:
Plus strand
chr9:131,266,971-131,304,580
(GRCh37/hg19)
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 NUP42. Isoform 2 does not interact with NUP42. Able to form a heterotrimer with NUP155 and NUP42 in vitro.
    Miscellaneous:
    • [Isoform 1]: Major isoform.

    Three dimensional structures from OCA and Proteopedia for GLE1 Gene

    Alternative splice isoforms for GLE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLE1 Gene

Post-translational modifications for GLE1 Gene

  • Ubiquitination at Lys170, Lys424, Lys479, Lys539, and Lys688
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for GLE1
  • Boster Bio Antibodies for GLE1
  • Santa Cruz Biotechnology (SCBT) Antibodies for GLE1

No data available for DME Specific Peptides for GLE1 Gene

Domains & Families for GLE1 Gene

Gene Families for GLE1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for GLE1 Gene

InterPro:
Blocks:
  • GLE1-like
ProtoNet:

Suggested Antigen Peptide Sequences for GLE1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ10905 fis, clone OVARC1000014, highly similar to Nucleoporin GLE1 (B3KMG0_HUMAN)
  • GLE1-like protein (GLE1_HUMAN)

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).

Phenotypes From GWAS Catalog for GLE1 Gene

Gene Ontology (GO) - Molecular Function for GLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000822 inositol hexakisphosphate binding IBA 21873635
GO:0005515 protein binding IPI 18724935
GO:0005543 phospholipid binding IBA 21873635
GO:0031369 translation initiation factor binding IBA 21873635
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 Gle1<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for GLE1 Gene

miRTarBase miRNAs that target GLE1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLE1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
cytoskeleton 4
plasma membrane 3
endoplasmic reticulum 2
golgi apparatus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IDA 28035044
GO:0005643 nuclear pore TAS 9618489
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with GLE1: view

Pathways & Interactions for GLE1 Gene

PathCards logo

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,IBA 21873635
GO:0006446 regulation of translational initiation IBA 21873635
GO:0006449 regulation of translational termination IBA 21873635
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 and SIGNOR curated interactions for GLE1 Gene

Drugs & Compounds for GLE1 Gene

No Compound Related Data Available

Transcripts for GLE1 Gene

mRNA/cDNA for GLE1 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GLE1

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

Expression for GLE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for GLE1 Gene



Protein tissue co-expression partners for GLE1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLE1

SOURCE GeneReport for Unigene cluster for GLE1 Gene:

Hs.522418

Evidence on tissue expression from TISSUES for GLE1 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Muscle(2.7)
  • Skin(2.6)
  • Heart(2.6)
  • Intestine(2.1)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GLE1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GLE1: view

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
Chimpanzee
(Pan troglodytes)
Mammalia GLE1 30 31
  • 99.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GLE1 30 31
  • 88.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GLE1 30 31
  • 87.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gle1 30
  • 84.25 (n)
Mouse
(Mus musculus)
Mammalia Gle1 30 17 31
  • 84.08 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GLE1 31
  • 72 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 69 (a)
OneToMany
-- 31
  • 69 (a)
OneToMany
-- 31
  • 69 (a)
OneToMany
-- 31
  • 69 (a)
OneToMany
-- 31
  • 68 (a)
OneToMany
Chicken
(Gallus gallus)
Aves GLE1 30 31
  • 66.27 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GLE1 31
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gle1 30
  • 58.26 (n)
Str.760 30
Zebrafish
(Danio rerio)
Actinopterygii gle1 30 31
  • 58.88 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG14749 31
  • 23 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLE1 31 33
  • 21 (a)
OneToOne
Species where no ortholog for GLE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for GLE1: view image

Paralogs for GLE1 Gene

No data available for Paralogs for GLE1 Gene

Variants for GLE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLE1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
619142 Pathogenic: Lethal arthrogryposis with anterior horn cell disease 128,508,867(+) TTTCTC/T INTRON_VARIANT
702330 Likely Benign: Lethal congenital contracture syndrome 1; Lethal arthrogryposis with anterior horn cell disease; not provided 128,508,892(+) G/A MISSENSE_VARIANT
704315 Benign: not provided 128,522,679(+) G/A SYNONYMOUS_VARIANT
704456 Likely Benign: not provided 128,533,877(+) A/G SYNONYMOUS_VARIANT
704549 Likely Benign: not provided 128,539,705(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GLE1 Gene

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

Variant ID Type Subtype PubMed ID
esv2618000 CNV deletion 19546169
nsv1044853 CNV gain 25217958
nsv1051081 CNV gain 25217958
nsv1118369 CNV deletion 24896259

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)

Additional Variant Information for GLE1 Gene

Human Gene Mutation Database (HGMD)
GLE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLE1

SNP Genotyping and Copy Number Assay Products

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

Disorders for GLE1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for GLE1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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 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.
  • Congenital arthrogryposis with anterior horn cell disease (CAAHD) [MIM:611890]: An autosomal recessive 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.

Additional Disease Information for GLE1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 HO … Peltonen L (Nature genetics 2008) 2 3 4
  2. The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155. (PMID: 14645504) Rayala HJ … Wente SR (Molecular & cellular proteomics : MCP 2004) 3 4 23
  3. An essential role for hGle1 nucleocytoplasmic shuttling in mRNA export. (PMID: 12668658) Kendirgi F … Wente SR (The Journal of cell biology 2003) 3 4 23
  4. The human homologue of Saccharomyces cerevisiae Gle1p is required for poly(A)+ RNA export. (PMID: 9618489) Watkins JL … Wente SR (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for GLE1 Gene

Sources for GLE1 Gene