GLE1L

Nucleoporin GLE1 is a protein that in humans is encoded by the GLE1 gene on chromosome 9.^[5][6][7]

GLE1
Identifiers
Aliases	GLE1, GLE1L, LCCS, LCCS1, hRNA export mediator, GLE1 RNA export mediator, CAAHC, CAAHD
External IDs	OMIM: 603371; MGI: 1921662; HomoloGene: 20379; GeneCards: GLE1; OMA:GLE1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q34.11 Start 128,504,655 bp[1] End 128,543,874 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 B Start 29,825,438 bp[2] End 29,850,383 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell tendon of biceps brachii right testis left testis granulocyte gastrocnemius muscle sperm monocyte ventricular zone islet of Langerhans Top expressed in secondary oocyte primary oocyte zygote yolk sac Rostral migratory stream ureter ascending aorta renal corpuscle neural layer of retina aortic valve More reference expression data BioGPS More reference expression data
Gene ontology Molecular function identical protein binding protein binding inositol hexakisphosphate binding phospholipid binding translation initiation factor binding Cellular component membrane nucleus nuclear pore cytoplasmic filaments nuclear pore extracellular space nucleolus cytoplasm cytosol nuclear membrane Biological process protein transport poly(A)+ mRNA export from nucleus mRNA transport mRNA export from nucleus regulation of translational termination regulation of translational initiation transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2733 74412 Ensembl ENSG00000119392 ENSMUSG00000019715 UniProt Q53GS7 Q8R322 RefSeq (mRNA) NM_001003722 NM_001499 NM_028923 RefSeq (protein) NP_001003722 NP_001490 NP_083199 Location (UCSC) Chr 9: 128.5 – 128.54 Mb Chr 2: 29.83 – 29.85 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[7]

Clinical significance

A genome-wide screening and linkage analysis assigned the disease locus of lethal congenital contracture syndrome, one of 40 Finnish heritage diseases, to a defined region of 9q34, where the GLE1 gene is located.^[8] Mutations in GLEI have been identified in families with foetal motoneuron disease.^[9]

Interactions

GLE1L has been shown to interact with NUP155.^[10]