ID:GLE1_HUMAN DESCRIPTION: RecName: Full=Nucleoporin GLE1; Short=hGLE1; AltName: Full=GLE1-like protein; 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). SUBUNIT: 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. SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm. Shuttling is essential for its mRNA export function. SUBCELLULAR LOCATION: 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. DISEASE: Defects in GLE1 are the cause of lethal congenital contracture syndrome type 1 (LCCS1) [MIM:253310]; also known as multiple contracture syndrome type Finnish. LCCS is an autosomal recessive disorder characterized by early fetal hydrops and akinesia, micrognatia, pulmonary hypoplasia, pterygia, multiple joint contractures, specific neuropathology with degeneration of anterior horn neurons and extreme skeletal muscle atrophy. LCCS1 leads to prenatal death. DISEASE: Defects in GLE1 are the cause of lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890]. LAAHD is characterized by fetal akinesia, arthrogryposis and motor neuron loss. LAADH fetus often survive delivery, but die early as a result of respiratory failure. Neuropathological findings resemble those of LCCS1, but are less severe. SIMILARITY: Belongs to the GLE1 family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q53GS7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006406 mRNA export from nucleus GO:0006446 regulation of translational initiation GO:0006449 regulation of translational termination GO:0015031 protein transport GO:0016973 poly(A)+ mRNA export from nucleus GO:0051028 mRNA transport
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
