InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GLE1

Summary

InnateDB Protein

IDBP-88248.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GLE1

Protein Name

GLE1 RNA export mediator homolog (yeast)

Synonyms

GLE1L; hGLE1; LCCS; LCCS1;

Species

Homo sapiens

Ensembl Protein

ENSP00000308622

InnateDB Gene

IDBG-88246 (GLE1)

Protein Structure

UniProt Annotation

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}.

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.

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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.