ID  Q53GS7;
PN  mRNA export factor GLE1;
GN  GLE1;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0185;
SL  Comments: Nucleus {ECO:0000269|PubMed:12668658}. Cytoplasm {ECO:0000269|PubMed:12668658}. Note=Shuttles between the nucleus and the cytoplasm (PubMed:12668658). Shuttling is essential for its mRNA export function (PubMed:12668658). {ECO:0000269|PubMed:12668658}. [Isoform 1]: Cytoplasm {ECO:0000269|PubMed:12668658}. Nucleus, nuclear pore complex {ECO:0000269|PubMed:12668658}. Note=Shuttles between the nucleus and the cytoplasm (PubMed:12668658). In the nucleus, isoform 1 localizes to the nuclear pore complex and nuclear envelope (PubMed:12668658). Shuttling is essential for its mRNA export function (PubMed:12668658). {ECO:0000269|PubMed:12668658}.
DR  UNIPROT: Q53GS7;
DR  UNIPROT: O75458;
DR  UNIPROT: Q53GT9;
DR  UNIPROT: Q5VVU1;
DR  UNIPROT: Q8NCP6;
DR  UNIPROT: Q9UFL6;
DR  PDB: 6B4F;
DR  PDB: 6B4I;
DR  PDB: 6B4J;
DR  Pfam: PF07817;
DR  OMIM: 253310;
DR  OMIM: 603371;
DR  OMIM: 611890;
DR  DisGeNET: 2733;
DE  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:16000379, ECO:0000269|PubMed:9618489}.
DE  Disease: 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:0000269|PubMed:18204449}. Note=The disease is caused by variants affecting the gene represented in this entry. Congenital arthrogryposis with anterior horn cell disease (CAAHD) [MIM:611890]: An autosomal recessive 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:0000269|PubMed:18204449}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: O75694; IntAct: EBI-8873568; Score: 0.37
DE  Interaction: P49790; IntAct: EBI-11076796; Score: 0.35
DE  Interaction: P57740; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q14974; IntAct: EBI-11115566; Score: 0.35
DE  Interaction: P06103; IntAct: EBI-1955784; Score: 0.40
DE  Interaction: O00303; IntAct: EBI-1955532; Score: 0.57
DE  Interaction: Q53GS7; IntAct: EBI-8873329; Score: 0.58
DE  Interaction: Q86UP2; IntAct: EBI-8873563; Score: 0.37
DE  Interaction: Q6PFD9; IntAct: EBI-10994876; Score: 0.35
DE  Interaction: Q8BH74; IntAct: EBI-10997196; Score: 0.35
DE  Interaction: Q9ERU9; IntAct: EBI-10999306; Score: 0.35
DE  Interaction: P63280; IntAct: EBI-11044140; Score: 0.35
DE  Interaction: Q96EE3; IntAct: EBI-11086798; Score: 0.35
DE  Interaction: P03427; IntAct: EBI-14404759; Score: 0.35
DE  Interaction: Q9GZY0; IntAct: EBI-21528397; Score: 0.35
DE  Interaction: P10412; IntAct: EBI-21665473; Score: 0.35
DE  Interaction: Q9BTL4; IntAct: EBI-21675209; Score: 0.35
DE  Interaction: Q15050; IntAct: EBI-21678544; Score: 0.35
DE  Interaction: Q9UBU9; IntAct: EBI-21728803; Score: 0.35
DE  Interaction: Q8N4J0; IntAct: EBI-21736494; Score: 0.35
DE  Interaction: Q02539; IntAct: EBI-21742951; Score: 0.35
DE  Interaction: P58499; IntAct: EBI-25859236; Score: 0.56
DE  Interaction: Q9UBF1; IntAct: EBI-25859228; Score: 0.56
DE  Interaction: Q9Y575; IntAct: EBI-25859218; Score: 0.56
DE  Interaction: Q9Y2M5; IntAct: EBI-25859210; Score: 0.56
DE  Interaction: Q00994; IntAct: EBI-25859202; Score: 0.56
DE  Interaction: Q9UGC6; IntAct: EBI-25859194; Score: 0.56
DE  Interaction: O75409; IntAct: EBI-25859186; Score: 0.56
DE  Interaction: Q9Y2L8; IntAct: EBI-25859178; Score: 0.56
DE  Interaction: Q29RF7; IntAct: EBI-25859170; Score: 0.56
DE  Interaction: Q9Y483; IntAct: EBI-25859162; Score: 0.56
DE  Interaction: Q9NS23; IntAct: EBI-25859154; Score: 0.56
DE  Interaction: Q16520; IntAct: EBI-25859146; Score: 0.56
DE  Interaction: O76041; IntAct: EBI-25859138; Score: 0.56
DE  Interaction: Q9Y239; IntAct: EBI-25859130; Score: 0.56
DE  Interaction: Q9UNE7; IntAct: EBI-25859122; Score: 0.56
DE  Interaction: O60641; IntAct: EBI-25859114; Score: 0.56
DE  Interaction: Q86V28; IntAct: EBI-25859106; Score: 0.56
DE  Interaction: O75558; IntAct: EBI-25859098; Score: 0.56
DE  Interaction: O75379; IntAct: EBI-25859090; Score: 0.56
DE  Interaction: O75925; IntAct: EBI-25859082; Score: 0.56
DE  Interaction: Q9UNS2; IntAct: EBI-25859074; Score: 0.56
DE  Interaction: Q99598; IntAct: EBI-25859066; Score: 0.56
DE  Interaction: P54274; IntAct: EBI-25859058; Score: 0.56
DE  Interaction: Q12824; IntAct: EBI-25859050; Score: 0.56
DE  Interaction: Q9BR81; IntAct: EBI-25859042; Score: 0.56
DE  Interaction: Q16621; IntAct: EBI-25859034; Score: 0.56
DE  Interaction: P27338; IntAct: EBI-25859026; Score: 0.56
DE  Interaction: P26439; IntAct: EBI-25859018; Score: 0.56
DE  Interaction: P06241; IntAct: EBI-25859010; Score: 0.56
DE  Interaction: O15287; IntAct: EBI-25859002; Score: 0.56
DE  Interaction: O60220; IntAct: EBI-25858994; Score: 0.56
DE  Interaction: Q9UER7; IntAct: EBI-25858986; Score: 0.56
DE  Interaction: P51798; IntAct: EBI-25858978; Score: 0.56
DE  Interaction: P24863; IntAct: EBI-25858970; Score: 0.56
DE  Interaction: Q96D59; IntAct: EBI-25859358; Score: 0.56
DE  Interaction: Q68EA5; IntAct: EBI-25859350; Score: 0.56
DE  Interaction: A5D8V7; IntAct: EBI-25859340; Score: 0.56
DE  Interaction: Q9UII2; IntAct: EBI-25859332; Score: 0.56
DE  Interaction: Q8IY31; IntAct: EBI-25859324; Score: 0.56
DE  Interaction: Q8WYH8; IntAct: EBI-25859316; Score: 0.56
DE  Interaction: Q5T0J7; IntAct: EBI-25859308; Score: 0.56
DE  Interaction: Q9GZS3; IntAct: EBI-25859300; Score: 0.56
DE  Interaction: Q8NHQ1; IntAct: EBI-25859292; Score: 0.56
DE  Interaction: Q969K3; IntAct: EBI-25859284; Score: 0.56
DE  Interaction: Q9NS71; IntAct: EBI-25859268; Score: 0.56
DE  Interaction: Q96FW1; IntAct: EBI-25859260; Score: 0.56
DE  Interaction: Q96EN9; IntAct: EBI-25859252; Score: 0.56
DE  Interaction: Q8TAG9; IntAct: EBI-25859244; Score: 0.56
DE  Interaction: Q8N895; IntAct: EBI-25859382; Score: 0.56
DE  Interaction: Q8IYD9; IntAct: EBI-25859374; Score: 0.56
DE  Interaction: Q86WT6; IntAct: EBI-25859366; Score: 0.56
DE  Interaction: Q68G74; IntAct: EBI-25859424; Score: 0.56
DE  Interaction: Q96M61; IntAct: EBI-25859416; Score: 0.56
DE  Interaction: Q7Z698; IntAct: EBI-25859398; Score: 0.56
DE  Interaction: Q8IZU1; IntAct: EBI-25859390; Score: 0.56
DE  Interaction: Q04912; IntAct: EBI-32725158; Score: 0.27
GO  GO:0005814;
GO  GO:0005813;
GO  GO:0036064;
GO  GO:0005737;
GO  GO:0005829;
GO  GO:0005615;
GO  GO:0016020;
GO  GO:0005635;
GO  GO:0031965;
GO  GO:0005643;
GO  GO:0044614;
GO  GO:0005730;
GO  GO:0042802;
GO  GO:0000822;
GO  GO:0005543;
GO  GO:0031369;
GO  GO:0006406;
GO  GO:0006913;
GO  GO:0016973;
GO  GO:0015031;
GO  GO:0006446;
GO  GO:0006449;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MPSEGRCWETLKALRSSDKGRLCYYRDWLLRREDVLEECMSLPKLSSYSGWVVEHVLPHMQENQPLSETSPSSTSASALD
SQ  QPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVLQSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERKVQA
SQ  LSEMASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLRKEE
SQ  GQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQTRGNQLCSLISGIIRASSESSYPTAESQAEAERALREMRD
SQ  LLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDASMQC
SQ  VLTFEGLTNSKDSQAKKIKMDLQKAATIPVSQISTIAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTLNPQGLDFVQYKL
SQ  AEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKEGMALEDYQRMLGYQVKDSKV
SQ  EQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFDFLEVCGNALMKQYQVQ
SQ  FWKMLILIKEDYFPRIEAITSSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS
//