Q53GS7 · GLE1_HUMAN
- ProteinmRNA export factor GLE1
- GeneGLE1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids698 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
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).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | centriole | |
Cellular Component | centrosome | |
Cellular Component | ciliary basal body | |
Cellular Component | cytoplasm | |
Cellular Component | cytosol | |
Cellular Component | extracellular space | |
Cellular Component | membrane | |
Cellular Component | nuclear envelope | |
Cellular Component | nuclear membrane | |
Cellular Component | nuclear pore | |
Cellular Component | nuclear pore cytoplasmic filaments | |
Cellular Component | nucleolus | |
Molecular Function | identical protein binding | |
Molecular Function | inositol hexakisphosphate binding | |
Molecular Function | phospholipid binding | |
Molecular Function | translation initiation factor binding | |
Biological Process | mRNA export from nucleus | |
Biological Process | nucleocytoplasmic transport | |
Biological Process | poly(A)+ mRNA export from nucleus | |
Biological Process | protein transport |
Keywords
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended namemRNA export factor GLE1
- Short nameshGLE1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ53GS7
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Isoform 1
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Lethal congenital contracture syndrome 1 (LCCS1)
- Note
- DescriptionA 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.
- See alsoMIM:253310
Natural variants in LCCS1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_043874 | 144 | T>TPFQ | in LCCS1; allele Fin(Major); does not affect subcellular localization | |
VAR_043875 | 569 | R>H | in LCCS1; dbSNP:rs121434407 |
Congenital arthrogryposis with anterior horn cell disease (CAAHD)
- Note
- DescriptionAn 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.
- See alsoMIM:611890
Natural variants in CAAHD
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_043876 | 617 | V>M | in CAAHD; dbSNP:rs121434408 | |
VAR_043877 | 684 | I>T | in CAAHD; dbSNP:rs121434409 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_024056 | 130 | in dbSNP:rs17852725 | |||
Sequence: G → D | ||||||
Natural variant | VAR_043874 | 144 | in LCCS1; allele Fin(Major); does not affect subcellular localization | |||
Sequence: T → TPFQ | ||||||
Natural variant | VAR_024057 | 243 | in dbSNP:rs2275260 | |||
Sequence: I → V | ||||||
Natural variant | VAR_043875 | 569 | in LCCS1; dbSNP:rs121434407 | |||
Sequence: R → H | ||||||
Natural variant | VAR_024058 | 590 | in dbSNP:rs17856852 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_043876 | 617 | in CAAHD; dbSNP:rs121434408 | |||
Sequence: V → M | ||||||
Natural variant | VAR_043877 | 684 | in CAAHD; dbSNP:rs121434409 | |||
Sequence: I → T |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 749 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000204822 | 1-698 | UniProt | mRNA export factor GLE1 | |||
Sequence: MPSEGRCWETLKALRSSDKGRLCYYRDWLLRREDVLEECMSLPKLSSYSGWVVEHVLPHMQENQPLSETSPSSTSASALDQPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVLQSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERKVQALSEMASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLRKEEGQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQTRGNQLCSLISGIIRASSESSYPTAESQAEAERALREMRDLLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDASMQCVLTFEGLTNSKDSQAKKIKMDLQKAATIPVSQISTIAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTLNPQGLDFVQYKLAEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKEGMALEDYQRMLGYQVKDSKVEQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFDFLEVCGNALMKQYQVQFWKMLILIKEDYFPRIEAITSSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS | |||||||
Modified residue | 41 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 41 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 88 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 88 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 92 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 96 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 99 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 99 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 102 | PRIDE | Phosphothreonine | ||||
Sequence: T |
Keywords
- PTM
Proteomic databases
PTM databases
Interaction
Subunit
Associated with the NPC, however it may not be a stable component of the NPC complex since it shuttles between the nucleus and the cytoplasm. Interacts with nuclear pore complex proteins NUP155 and NUP42. Isoform 2 does not interact with NUP42. Able to form a heterotrimer with NUP155 and NUP42 in vitro.
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias, coiled coil.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-29 | Interaction with NUP155 | ||||
Sequence: MPSEGRCWETLKALRSSDKGRLCYYRDWL | ||||||
Compositional bias | 63-108 | Polar residues | ||||
Sequence: NQPLSETSPSSTSASALDQPSFVPKSPDASSAFSPASPATPNGTKG | ||||||
Region | 63-121 | Disordered | ||||
Sequence: NQPLSETSPSSTSASALDQPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVLQ | ||||||
Coiled coil | 151-277 | |||||
Sequence: QEEQERKVQALSEMASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLRKEEGQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLA | ||||||
Coiled coil | 305-356 | |||||
Sequence: AESQAEAERALREMRDLLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQG | ||||||
Compositional bias | 332-347 | Basic and acidic residues | ||||
Sequence: ACEDKRRQDEEEAQVK | ||||||
Region | 332-375 | Disordered | ||||
Sequence: ACEDKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQN | ||||||
Region | 444-483 | Mediates the shuttling between the nucleus and the cytoplasm | ||||
Sequence: IFDKIHSLLSGKPVQSGGRSVSVTLNPQGLDFVQYKLAEK | ||||||
Region | 656-698 | Interaction with NUP42 | ||||
Sequence: IEAITSSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS |
Sequence similarities
Belongs to the GLE1 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q53GS7-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- SynonymshGle1B
- NoteMajor isoform.
- Length698
- Mass (Da)79,836
- Last updated2005-12-06 v2
- ChecksumF9FC04683BCCDBB2
Q53GS7-2
- Name2
- SynonymshGle1A
Computationally mapped potential isoform sequences
There are 9 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A804HI94 | A0A804HI94_HUMAN | GLE1 | 417 | ||
A0A804HJ00 | A0A804HJ00_HUMAN | GLE1 | 543 | ||
A0A804HJ70 | A0A804HJ70_HUMAN | GLE1 | 707 | ||
A0A804HIJ1 | A0A804HIJ1_HUMAN | GLE1 | 307 | ||
A0A804HLL7 | A0A804HLL7_HUMAN | GLE1 | 160 | ||
A0A804HK09 | A0A804HK09_HUMAN | GLE1 | 627 | ||
A0A804HJY9 | A0A804HJY9_HUMAN | GLE1 | 663 | ||
A0A804HJB3 | A0A804HJB3_HUMAN | GLE1 | 680 | ||
A0A804HJF3 | A0A804HJF3_HUMAN | GLE1 | 41 |
Features
Showing features for compositional bias, sequence conflict, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 63-108 | Polar residues | ||||
Sequence: NQPLSETSPSSTSASALDQPSFVPKSPDASSAFSPASPATPNGTKG | ||||||
Sequence conflict | 83 | in Ref. 2; BAD96574 | ||||
Sequence: S → P | ||||||
Sequence conflict | 172 | in Ref. 2; BAD96562 | ||||
Sequence: F → S | ||||||
Compositional bias | 332-347 | Basic and acidic residues | ||||
Sequence: ACEDKRRQDEEEAQVK | ||||||
Sequence conflict | 549 | in Ref. 2; BAD96562 | ||||
Sequence: R → G | ||||||
Alternative sequence | VSP_016486 | 656-659 | in isoform 2 | |||
Sequence: IEAI → YQAC | ||||||
Alternative sequence | VSP_016487 | 660-698 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF058922 EMBL· GenBank· DDBJ | AAC25561.1 EMBL· GenBank· DDBJ | mRNA | ||
AK222842 EMBL· GenBank· DDBJ | BAD96562.1 EMBL· GenBank· DDBJ | mRNA | ||
AK222854 EMBL· GenBank· DDBJ | BAD96574.1 EMBL· GenBank· DDBJ | mRNA | ||
AL445287 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL356481 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC030012 EMBL· GenBank· DDBJ | AAH30012.1 EMBL· GenBank· DDBJ | mRNA | ||
AL117584 EMBL· GenBank· DDBJ | CAB56006.1 EMBL· GenBank· DDBJ | mRNA |