| Tbio | Nucleoporin GLE1 |
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).
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]
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]
Comments
Property Summary
| NCBI Gene PubMed Count | 24 |
| Grant Count | 45 |
| R01 Count | 28 |
| Funding | $5,192,429.6 |
| PubMed Score | 148.99 |
| PubTator Score | 42.54 |
| Disease | log2 FC | p |
|---|---|---|
| malignant mesothelioma | 1.700 | 0.000 |
| osteosarcoma | -1.856 | 0.000 |
| group 3 medulloblastoma | 1.600 | 0.000 |
| medulloblastoma, large-cell | 1.300 | 0.000 |
| intraductal papillary-mucinous neoplasm ... | 1.600 | 0.001 |
| PMID | Text |
|---|---|
| 26655997 | Restoration of miR-127-3p and miR-376a-3p counteracts the neoplastic phenotype of giant cell tumor of bone derived stromal cells by targeting COA1, GLE1 and PDIA6. |
| 25694449 | Role for Gle1A during stress granule formation and translation regulation during environmental stress responses is examined. |
| 25343993 | We report the identification of the first heterozygous mutations in GLE1 ever found to be associated with amyotrophic lateral sclerosis. |
| 24275432 | Lethal congenital contracture syndrome 1 and lethal arthrogryposis with anterior horn cell disease are associated with defective Gle1 function during the export of mRNA. [review] |
| 24243016 | Report documents a requirement for Gle1 self-association during mRNA export and uncover molecular defects underlying a lethal human disease lethal congenital contracture syndrome-1. |
| 22357925 | defective zebrafish GLE1 function in human LCCS1 results in both neurogenic and non-neurogenic defects linked to the apoptosis of proliferative organ precursors |
| 22064466 | Dbp5, Gle1-IP6 and Nup159: a working model for mRNP export. |
| 20379614 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 18204449 | Mutations in mRNA export mediator GLE1 result in fetal motoneuron disease. |
| 16000379 | The unique carboxyl-terminal 43 amino acid region of the hGle1B isoform mediates binding to the C-terminal non-phenylalanine- glycine region of the nucleoporin hCG1/NPL1. |
MPSEGRCWETLKALRSSDKGRLCYYRDWLLRREDVLEECMSLPKLSSYSGWVVEHVLPHMQENQPLSETS 1 - 70 PSSTSASALDQPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVLQSSRGIKVEGCVRMYELVHR 71 - 140 MKGTEGLRLWQEEQERKVQALSEMASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHR 141 - 210 HRAKILNLKLREAEQQRVKQAEQERLRKEEGQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQ 211 - 280 TRGNQLCSLISGIIRASSESSYPTAESQAEAERALREMRDLLMNLGQEITRACEDKRRQDEEEAQVKLQE 281 - 350 AQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDASMQCVLTFEGLTNSKDSQAKKIKM 351 - 420 DLQKAATIPVSQISTIAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTLNPQGLDFVQYKLAEKFVKQGEE 421 - 490 EVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKEGMALEDYQRMLGYQVKDSKV 491 - 560 EQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFDFLEVCG 561 - 630 NALMKQYQVQFWKMLILIKEDYFPRIEAITSSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS 631 - 698 //
| PMID | Year | Title |
|---|---|---|
| 26655997 | 2016 | Restoration of miR-127-3p and miR-376a-3p counteracts the neoplastic phenotype of giant cell tumor of bone derived stromal cells by targeting COA1, GLE1 and PDIA6. |
| 25694449 | 2015 | Cytoplasmic hGle1A regulates stress granules by modulation of translation. |
| 25343993 | 2015 | Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. |
| 24275432 | 2014 | Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis. |
| 24243016 | 2013 | Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease. |
| 24144296 | 2013 | Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. |
| 23186163 | 2013 | Toward a comprehensive characterization of a human cancer cell phosphoproteome. |
| 22664934 | 2012 | Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach. |
| 22357925 | 2012 | A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. |
| 22064466 | Dbp5, Gle1-IP6 and Nup159: a working model for mRNP export. | |
| More... |
