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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]

 Comments

Property Summary

NCBI Gene PubMed Count 24
PubMed Score 148.99
PubTator Score 42.54

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
osteosarcoma 7933 8.08081153245629E-7
malignant mesothelioma 3163 8.94754939311075E-7
medulloblastoma, large-cell 6234 1.77918258684383E-5
group 3 medulloblastoma 2254 1.70449149248234E-4
intraductal papillary-mucinous neoplasm (IPMN) 3289 6.61723686117588E-4

Expression

  Differential Expression (5)

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

Synonym

Accession Q53GS7 O75458 Q53GT9 Q5VVU1 Q8NCP6 Q9UFL6 hGLE1
Symbols LCCS
GLE1L
LCCS1
hGLE1

Gene

GLE1

PANTHER Protein Class (1)

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Platypus OMA EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG

 GO Function (4)

 GO Component (6)

 GO Process (5)

 Compartment GO Term (40)

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 IMPC Term (1)

 OMIM Term (2)

 MGI Term (1)

 HCA RNA Cell Line (56)

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Pathway (1)

 UniProt Keyword (14)

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Gene RIF (10)

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.

AA Sequence 

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
//

Text Mined References (28)

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.
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