InnateDB Protein
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IDBP-88248.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GLE1
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Protein Name
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GLE1 RNA export mediator homolog (yeast)
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Synonyms
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GLE1L; hGLE1; LCCS; LCCS1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000308622
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InnateDB Gene
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IDBG-88246 (GLE1)
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Protein Structure
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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:0000269PubMed:12668658, ECO:0000269PubMed:16000379, ECO:0000269PubMed:9618489}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:12668658}. Cytoplasm {ECO:0000269PubMed:12668658}. Note=Shuttles between the nucleus and the cytoplasm. Shuttling is essential for its mRNA export function.Isoform 1: Cytoplasm. Nucleus, nuclear pore complex. Note=Shuttles between the nucleus and the cytoplasm. In the nucleus, isoform 1 localizes to the nuclear pore complex and nuclear envelope. Shuttling is essential for its mRNA export function.
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Disease Associations |
Lethal congenital contracture syndrome 1 (LCCS1) [MIM:253310]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS1 patients manifest early fetal hydrops and akinesia, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures. It leads to prenatal death. {ECO:0000269PubMed:18204449}. Note=The disease is caused by mutations affecting the gene represented in this entry.Lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890]: A disorder characterized by fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture syndrome type 1, but are less severe. {ECO:0000269PubMed:18204449}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
10
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR012476
GLE1-like
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PFAM |
PF07817
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q53GS7
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PhosphoSite |
PhosphoSite-Q53GS7
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TrEMBL |
B3KMG0
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UniProt Splice Variant |
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Entrez Gene |
2733
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UniGene |
Hs.605284
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RefSeq |
NP_001003722
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HUGO |
HGNC:4315
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OMIM |
603371
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CCDS |
CCDS35154
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HPRD |
04536
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IMGT |
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EMBL |
AF058922
AK001767
AK222842
AK222854
AL117584
AL356481
AL445287
BC030012
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GenPept |
AAC25561
AAH30012
BAD96562
BAD96574
BAG50972
CAB56006
CAH71064
CAH71065
CAH71402
CAH71403
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