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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
  • GLE1 RNA Export Mediator-Like 3
  • Nucleoporin GLE1 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G128503 1.1 ENCODE 22.6 +0.0 33 2.5 HDGF MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 GLE1 COQ4 ODF2-AS1 WDR34 SPTAN1 LOC101929270 RNU7-171P
GH09G128909 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.6 +407.5 407544 5.5 PKNOX1 FOXA2 ARID4B ZBTB7B YY1 TCF12 GLIS2 GATA2 FOS SP5 LRRC8A KYAT1 PHYHD1 DOLK NUP188 SPOUT1 LOC100506100 ZDHHC12 PKN3 GLE1
GH09G128381 1.3 FANTOM5 ENCODE dbSUPER 7.9 -121.5 -121527 2.5 HLF CEBPB CBX2 CHD7 ZIC2 POLR2A SMARCA4 ZNF341 POU5F1 CTBP2 URM1 FAM102A GLE1 SLC25A25 DNM1 KYAT1 SPTAN1 ENSG00000272593
GH09G128889 1.5 Ensembl ENCODE dbSUPER 6.6 +387.2 387239 4.3 FOXA2 MLX SIN3A ARID4B DMAP1 ZBTB7B YY1 GLIS2 FOS DEK PKN3 SPOUT1 LOC101929270 ENSG00000272696 LOC101929314 PHYHD1 NUP188 DOLK ENSG00000272593 ZDHHC12
GH09G129380 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.8 +878.1 878074 4.6 PKNOX1 PTBP1 RAD21 ZBTB7B GLIS2 RCOR1 FOS CEBPB ZHX2 GATAD2B NTMT1 C9orf50 ENDOG GLE1 USP20 C9orf106 C9orf78 MIGA2 TOR1B ASB6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000241881 208 1401 HDGF MLX AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF143

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

Post-translational modifications for GLE1 Gene

  • Ubiquitination at isoforms=2170, Lys424, isoforms=2479, isoforms=2539, and Lys688
  • Modification sites at PhosphoSitePlus

Other Protein References for GLE1 Gene

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:0000822 inositol hexakisphosphate binding IBA --
GO:0005515 protein binding IPI 18724935
GO:0005543 phospholipid binding IBA --
GO:0031369 translation initiation factor binding IBA --
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

CRISPR Products

miRNA for GLE1 Gene

miRTarBase miRNAs that target GLE1

Inhibitory RNA Products

Clone Products

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
extracellular 5
nucleus 5
cytosol 5
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:0005634 nucleus IEA --
GO:0005643 nuclear pore TAS 9618489
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IBA,IEA --
genes like me logo Genes that share ontologies with GLE1: view

Pathways & Interactions 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:0006446 regulation of translational initiation IBA --
GO:0006449 regulation of translational termination IBA --
GO:0006810 transport IEA --
GO:0015031 protein transport 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

Unigene Clusters for GLE1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for GLE1 Gene



Protein tissue co-expression partners for GLE1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GLE1 Gene:

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(4.2)
  • Muscle(2.3)
  • Heart(2.2)
  • Lung(2.1)

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
Organs:
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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia GLE1 34 35
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia GLE1 34 35
  • 88.01 (n)
cow
(Bos Taurus)
Mammalia GLE1 34 35
  • 87.97 (n)
rat
(Rattus norvegicus)
Mammalia Gle1 34
  • 84.25 (n)
mouse
(Mus musculus)
Mammalia Gle1 34 16 35
  • 84.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GLE1 35
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 69 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves GLE1 34 35
  • 66.27 (n)
lizard
(Anolis carolinensis)
Reptilia GLE1 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gle1 34
  • 58.26 (n)
Str.760 34
zebrafish
(Danio rerio)
Actinopterygii gle1 34 35
  • 58.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14749 35
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLE1 35 37
  • 21 (a)
OneToOne
Species where no ortholog for GLE1 was found in the sources mined by GeneCards:
  • 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
rs121434407 Pathogenic, Lethal congenital contracture syndrome 1 (LCCS1) [MIM:253310] 128,536,414(+) AAAAC(A/G)CATGT intron-variant, reference, missense
rs121434408 Pathogenic, Lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890] 128,538,058(+) CAGAT(A/G)TGACA intron-variant, reference, missense
rs121434409 Pathogenic, Lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890] 128,541,124(+) GGACA(C/T)TCCTG intron-variant, upstream-variant-2KB, reference, missense
rs386833693 Pathogenic 128,522,658(+) AAAAA(A/G/T)CCTTT intron-variant
rs10513496 Likely benign 128,541,351(+) GGTCC(A/C)TTAGT intron-variant, upstream-variant-2KB, utr-variant-3-prime

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)

Relevant External Links for GLE1 Gene

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

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

Disorders for GLE1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
lethal congenital contracture syndrome 1
  • lccs1
arthrogryposis, lethal, with anterior horn cell disease
  • lethal arthrogryposis with anterior horn cell disease
lethal congenital contracture syndrome
  • lethal congenital contracture syndrome 1
anterior horn cell disease
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 64
  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 22 64
  3. An essential role for hGle1 nucleocytoplasmic shuttling in mRNA export. (PMID: 12668658) Kendirgi F. … Wente S.R. (J. Cell Biol. 2003) 3 4 22 64
  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 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for GLE1 Gene

Sources for GLE1 Gene

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