GLE1

GLE1 RNA export mediator

Summary

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]

Known Variants547 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs148715387	9:131,266,812	A/G	—	likely benign
rs77700509	9:131,266,847	G/A	—	likely benign
rs545478697	9:131,266,977	C/A	—	uncertain significance
rs886063488	9:131,267,001	A/C	—	uncertain significance
rs56214514	9:131,267,004	C/T	—	uncertain significance
rs527886091	9:131,267,034	G/A	—	uncertain significance
rs372008961	9:131,267,040	T/C	—	conflicting classifications of pathogenicity
rs746646699	9:131,267,051	G/A	—	uncertain significance
rs150246404	9:131,267,089	C/G	—	conflicting classifications of pathogenicity
rs1846592832	9:131,267,090	G/A	—	likely benign
rs1589036751	9:131,267,102	C/G	—	likely benign
rs763948685	9:131,267,115	T/C	—	likely benign
rs549769200	9:131,267,138	C/G	—	conflicting classifications of pathogenicity
rs1564545743	9:131,267,147	C/G	—	likely benign
rs998518976	9:131,267,160	C/G	—	uncertain significance
rs2540547879	9:131,267,171	G/A	—	likely benign
rs1427139632	9:131,267,181	G/T	—	pathogenic
rs766640782	9:131,267,190	G/T	—	likely benign
rs1460204794	9:131,267,193	G/A	—	likely benign
rs779507743	9:131,267,196	C/T	—	likely benign
rs920579323	9:131,267,197	C/G	—	likely benign
rs751141702	9:131,267,198	C/G	—	likely benign
rs56164320	9:131,267,212	C/G	—	benign
rs79699209	9:131,267,266	C/G	—	benign
rs2540556830	9:131,271,137	C/A	—	likely benign
rs1289398991	9:131,271,139	C/T	—	likely benign
rs1490783611	9:131,271,145	T/G	—	likely benign
rs2132404784	9:131,271,147	T/C	—	likely benign
rs2540556906	9:131,271,155	G/A	—	uncertain significance
rs1332115012	9:131,271,157	T/C	—	likely benign
rs2540556951	9:131,271,166	A/G	—	likely benign
rs2540556962	9:131,271,167	G/T	—	pathogenic
rs138871311	9:131,271,171	G/A	—	likely benign
rs749876906	9:131,271,182	C/T	—	uncertain significance
rs1429200746	9:131,271,190	A/G	—	likely benign
rs550698804	9:131,271,205	A/T	—	likely benign
rs2540557166	9:131,271,207	G/A	—	pathogenic
rs2132405090	9:131,271,208	G/A	—	pathogenic
rs2540557217	9:131,271,217	G/A	—	likely benign
rs768406713	9:131,271,220	C/T	—	likely benign
rs201830047	9:131,271,221	G/A	—	conflicting classifications of pathogenicity
rs2132405192	9:131,271,224	C/T	—	likely benign
rs772263557	9:131,271,229	C/G	—	likely benign
rs1846720686	9:131,271,232	T/C	—	likely benign
rs886043020	9:131,271,233	A/G	—	uncertain significance
rs771305251	9:131,271,247	A/G	—	likely benign
rs375373350	9:131,271,250	T/G	—	likely benign
rs2132405444	9:131,271,262	T/G	—	likely benign
rs765678276	9:131,271,265	G/T	—	likely benign
rs1346136999	9:131,271,271	C/G	—	likely benign
rs533223796	9:131,271,277	G/A	—	benign
rs2540557629	9:131,271,280	A/C	—	likely benign
rs2132405632	9:131,271,289	C/A	—	likely benign
rs754826368	9:131,271,292	A/G	—	likely benign
rs772765696	9:131,271,296	C/T	—	pathogenic
rs1846726380	9:131,271,310	T/C	—	likely benign
rs2540557904	9:131,271,316	A/G	—	likely benign
rs777044751	9:131,271,325	C/T	—	likely benign
rs374779242	9:131,271,331	C/T	—	likely benign
rs2540558020	9:131,271,337	C/T	—	likely benign
rs2540558062	9:131,271,349	C/G	—	likely benign
rs2540558100	9:131,271,358	A/C	—	likely benign
rs760226671	9:131,271,364	A/G	—	likely benign
rs2540558147	9:131,271,371	A/G	—	uncertain significance
rs1690677282	9:131,271,378	T/G	—	likely pathogenic
rs2132406087	9:131,271,384	T/A	—	likely benign
rs752458769	9:131,271,389	T/G	—	uncertain significance
rs1207786849	9:131,271,392	G/C	—	likely benign
rs994955066	9:131,271,393	C/T	—	likely benign
rs139470984	9:131,273,511	A/G	intron variant	—
rs11999181	9:131,277,610	T/G	—	likely benign
rs2540573888	9:131,277,788	T/C	—	likely benign
rs2540573908	9:131,277,791	A/C	—	likely benign
rs1228661395	9:131,277,799	C/A	—	likely benign
rs1275877071	9:131,277,800	T/A	—	likely benign
rs763162057	9:131,277,801	C/T	—	likely benign
rs2132430005	9:131,277,803	T/C	—	likely benign
rs147114045	9:131,277,807	G/A	—	likely pathogenic
rs137939042	9:131,277,813	A/G	—	likely benign
rs1467727552	9:131,277,822	C/G	—	likely benign
rs1271736202	9:131,277,837	T/A	—	likely benign
rs750559006	9:131,277,847	C/G	—	uncertain significance
rs1846960027	9:131,277,852	C/T	—	likely benign
rs2540574249	9:131,277,855	A/C	—	likely benign
rs1228402785	9:131,277,856	C/A	—	likely benign
rs369524210	9:131,277,866	A/C	—	uncertain significance
rs768968019	9:131,277,870	G/A	—	likely benign
rs370361962	9:131,277,879	C/T	—	likely benign
rs530867627	9:131,277,880	G/A	—	conflicting classifications of pathogenicity
rs374673335	9:131,277,883	C/T	—	pathogenic
rs377567854	9:131,277,891	C/T	—	likely benign
rs2540574463	9:131,277,894	A/G	—	likely benign
rs767599399	9:131,277,897	G/T	—	likely benign
rs1335460402	9:131,277,912	A/G	—	likely benign
rs2132430658	9:131,277,920	T/C	—	likely pathogenic
rs1266806972	9:131,277,928	C/G	—	likely benign
rs1331786868	9:131,277,929	C/A	—	likely benign
rs73669914	9:131,278,023	C/T	—	likely benign
rs78065139	9:131,278,128	G/A	—	likely benign
rs1048039054	9:131,284,927	A/C	—	likely benign

Showing 100 of 547 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.