| 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
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| LETHAL CONGENITAL CONTRACTURE SYNDROME 1 | 1 | 0.0 | 0.0 |
| Lethal Arthrogryposis With Anterior Horn Cell Disease | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7950 | 8.1e-07 |
| malignant mesothelioma | 3232 | 8.9e-07 |
| medulloblastoma, large-cell | 6241 | 1.8e-05 |
| group 3 medulloblastoma | 4104 | 1.7e-04 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 6.6e-04 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Lethal congenital contracture syndrome | 8 | 7.031 | 3.5 |
| Descending colon cancer | 1 | 3.802 | 1.9 |
| Lymphangioleiomyomatosis | 16 | 3.532 | 1.8 |
| lung cancer | 4740 | 3.311 | 1.7 |
| Carcinoma | 11493 | 3.196 | 1.6 |
| Syndromic X-linked intellectual disability Cabezas type | 7 | 3.141 | 1.6 |
| Spongiotic dermatitis | 2 | 3.117 | 1.6 |
| Bruck syndrome | 10 | 3.092 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| group 3 medulloblastoma | 1.600 | 1.7e-04 |
| intraductal papillary-mucinous neoplasm ... | 1.600 | 6.6e-04 |
| malignant mesothelioma | 1.700 | 8.9e-07 |
| medulloblastoma, large-cell | 1.300 | 1.8e-05 |
| osteosarcoma | -1.856 | 8.1e-07 |
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 //
