Human Gene GLE1 (uc004bvj.3) Description and Page Index
Description: Homo sapiens GLE1 RNA export mediator homolog (yeast) (GLE1), transcript variant 1, mRNA. RefSeq Summary (NM_001003722): 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]. Transcript (Including UTRs) Position: hg19 chr9:131,266,971-131,304,580 Size: 37,610 Total Exon Count: 16 Strand: + Coding Region Position: hg19 chr9:131,267,085-131,303,449 Size: 36,365 Coding Exon Count: 16
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.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): GLE1 CDC HuGE Published Literature: GLE1
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.