GLE1 (GLE1 RNA export mediator)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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2733 |
Gene nameGene Name - the full gene name approved by the HGNC.
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GLE1 RNA export mediator |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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GLE1 |
SynonymsGene synonyms aliases
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CAAHC, CAAHD, GLE1L, LCCS, LCCS1, hGLE1 |
ChromosomeChromosome number
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9 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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9q34.11 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 o |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs146800850 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Missense variant, coding sequence variant |
rs386833693 |
A>C,G,T |
Pathogenic |
Intron variant |
rs1589040836 |
TCTCT>- |
Pathogenic |
Intron variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q53GS7 |
Protein name |
mRNA export factor GLE1 (hGLE1) (GLE1 RNA export mediator) (GLE1-like protein) (Nucleoporin GLE1) |
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). {ECO:0000269|PubMed:12668658, ECO:0000269|PubMed:16 |
PDB |
6B4F
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6B4I
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6B4J
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF07817 |
GLE1 |
397 → 649 |
GLE1-like protein |
Family |
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Sequence |
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Sequence length |
698 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Amyotrophic lateral sclerosis |
Amyotrophic Lateral Sclerosis |
rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087 |
25343993 |
Arthrogryposis multiplex congenita |
Arthrogryposis |
rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627 |
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Cryptorchidism |
Cryptorchidism |
rs121912555, rs104894697, rs104894698, rs398122886 |
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Lethal arthrogryposis with anterior horn cell disease |
Lethal Arthrogryposis With Anterior Horn Cell Disease |
rs386833693, rs121434407, rs121434408, rs121434409, rs1336481358, rs1589040836, rs765269946 |
18204449, 23421748, 16892327 |
Lethal congenital contracture syndrome |
LETHAL CONGENITAL CONTRACTURE SYNDROME 1, Lethal congenital contracture syndrome type 1 |
rs121908315, rs386833693, rs121434407, rs1565859132, rs786204798, rs786204799, rs786204800, rs749355583, rs793888524, rs793888525, rs751050956, rs1555642784, rs746361190, rs886041056, rs764239923, rs779432560, rs539703340, rs886041057, rs368085516, rs750803388, rs775011495, rs144659252, rs1595795343, rs1595795307, rs755420151 |
18204449, 23421748, 16892327 |
Multiple congenital anomalies |
Multiple congenital anomalies |
rs1057517732 |
25343993, 24961629, 18204449, 27684565, 23421748, 3993672, 28884921 |
Myopia |
Myopia |
rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023 |
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Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Amniotic bands |
Amniotic Bands |
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Anterior horn cell disease |
Anterior Horn Cell Disease |
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Anxiety disorder |
Anxiety |
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Arthrogryposis-anterior horn cell disease syndrome |
Arthrogryposis-anterior horn cell disease syndrome |
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Congenital clubfoot |
Congenital clubfoot |
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Pulmonary hypoplasia |
Congenital hypoplasia of lung |
rs1569032634 |
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Dwarfism |
Dwarfism |
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Dysarthria |
Dysarthria |
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Dysmorphic features |
Dysmorphic features |
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25343993, 3993672, 28884921, 18204449, 23421748, 27684565, 24961629 |
High palate |
Byzanthine arch palate |
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Laryngospasm |
Laryngospasm |
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Mental depression |
Depressive disorder |
rs587778876, rs587778877 |
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Micrognathism |
Micrognathism |
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Mood swings |
Mood swings |
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Motor delay |
Clumsiness - motor delay |
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Neck webbing |
Neck webbing |
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Pena shokeir syndrome |
Pena-Shokeir syndrome type I |
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Peripheral axonal neuropathy |
Peripheral axonal neuropathy |
rs202219507, rs529035174, rs758974790, rs70983380, rs761291489, rs1579721449, rs1572614757, rs777077185 |
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Ptosis |
Blepharoptosis, Ptosis |
rs139920573 |
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Respiratory failure |
Respiratory Failure |
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Vertical talus |
Vertical Talus |
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