UniProtKB - Q53GS7 (GLE1_HUMAN)
Protein
Nucleoporin GLE1
Gene
GLE1
Organism
Homo sapiens (Human)
Status
Functioni
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).3 Publications
GO - Molecular functioni
- identical protein binding Source: IntAct
- inositol hexakisphosphate binding Source: GO_Central
- phospholipid binding Source: GO_Central
- translation initiation factor binding Source: GO_Central
GO - Biological processi
- mRNA export from nucleus Source: GO_Central
- poly(A)+ mRNA export from nucleus Source: InterPro
- regulation of translational initiation Source: GO_Central
- regulation of translational termination Source: GO_Central
Keywordsi
Biological process | mRNA transport, Protein transport, Translocation, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q53GS7 |
Reactomei | R-HSA-159236, Transport of Mature mRNA derived from an Intron-Containing Transcript |
Protein family/group databases
TCDBi | 1.I.1.1.3, the nuclear pore complex (npc) family 3.A.18.1.1, the nuclear mrna exporter (mrna-e) family |
Names & Taxonomyi
Protein namesi | Recommended name: Nucleoporin GLE1Short name: hGLE1 Alternative name(s): GLE1-like protein |
Gene namesi | Name:GLE1 Synonyms:GLE1L |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000119392.14 |
HGNCi | HGNC:4315, GLE1 |
MIMi | 603371, gene |
neXtProti | NX_Q53GS7 |
Subcellular locationi
Nucleus
- nuclear pore complex 1 Publication
Other locations
- Cytoplasm 1 Publication
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).1 Publication
Cytoskeleton
- centriole Source: CACAO
- centrosome Source: CACAO
- ciliary basal body Source: CACAO
Cytosol
- cytosol Source: HPA
Extracellular region or secreted
- extracellular space Source: UniProtKB
Nucleus
- nuclear envelope Source: CACAO
- nuclear membrane Source: HPA
- nuclear pore Source: ProtInc
- nuclear pore cytoplasmic filaments Source: GO_Central
- nucleolus Source: HPA
Other locations
Keywords - Cellular componenti
Cytoplasm, Nuclear pore complex, NucleusPathology & Biotechi
Involvement in diseasei
Lethal congenital contracture syndrome 1 (LCCS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043874 | 144 | T → TPFQ in LCCS1; allele Fin(Major); does not affect subcellular localization. 1 Publication | 1 | |
Natural variantiVAR_043875 | 569 | R → H in LCCS1. 1 PublicationCorresponds to variant dbSNP:rs121434407EnsemblClinVar. | 1 |
Congenital arthrogryposis with anterior horn cell disease (CAAHD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043876 | 617 | V → M in CAAHD. 1 PublicationCorresponds to variant dbSNP:rs121434408EnsemblClinVar. | 1 | |
Natural variantiVAR_043877 | 684 | I → T in CAAHD. 1 PublicationCorresponds to variant dbSNP:rs121434409EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 2733 |
MalaCardsi | GLE1 |
MIMi | 253310, phenotype 611890, phenotype |
OpenTargetsi | ENSG00000119392 |
Orphaneti | 803, Amyotrophic lateral sclerosis 53696, Arthrogryposis-anterior horn cell disease syndrome 1486, Lethal congenital contracture syndrome type 1 |
PharmGKBi | PA28718 |
Miscellaneous databases
Pharosi | Q53GS7, Tbio |
Polymorphism and mutation databases
BioMutai | GLE1 |
DMDMi | 83288218 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000204822 | 1 – 698 | Nucleoporin GLE1Add BLAST | 698 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 41 | PhosphoserineCombined sources | 1 | |
Modified residuei | 88 | PhosphoserineCombined sources | 1 | |
Modified residuei | 99 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q53GS7 |
jPOSTi | Q53GS7 |
MassIVEi | Q53GS7 |
MaxQBi | Q53GS7 |
PaxDbi | Q53GS7 |
PeptideAtlasi | Q53GS7 |
PRIDEi | Q53GS7 |
ProteomicsDBi | 62487 [Q53GS7-1] 62488 [Q53GS7-2] |
PTM databases
iPTMneti | Q53GS7 |
PhosphoSitePlusi | Q53GS7 |
Expressioni
Gene expression databases
Bgeei | ENSG00000119392, Expressed in female gonad and 227 other tissues |
Genevisiblei | Q53GS7, HS |
Organism-specific databases
HPAi | ENSG00000119392, Low tissue specificity |
Interactioni
Subunit structurei
Associated with the NPC, it however 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.
2 PublicationsBinary interactionsi
Hide detailsQ53GS7
With | #Exp. | IntAct |
---|---|---|
EIF3F [O00303] | 2 | EBI-1955541,EBI-711990 |
itself | 5 | EBI-1955541,EBI-1955541 |
GO - Molecular functioni
- identical protein binding Source: IntAct
- translation initiation factor binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 108995, 34 interactors |
ComplexPortali | CPX-873, Nuclear pore complex |
CORUMi | Q53GS7 |
IntActi | Q53GS7, 20 interactors |
STRINGi | 9606.ENSP00000308622 |
Miscellaneous databases
RNActi | Q53GS7, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q53GS7 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 29 | Interaction with NUP155Add BLAST | 29 | |
Regioni | 444 – 483 | Mediates the shuttling between the nucleus and the cytoplasmAdd BLAST | 40 | |
Regioni | 656 – 698 | Interaction with NUP421 PublicationAdd BLAST | 43 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 151 – 277 | Sequence analysisAdd BLAST | 127 | |
Coiled coili | 305 – 356 | Sequence analysisAdd BLAST | 52 |
Sequence similaritiesi
Belongs to the GLE1 family.Curated
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG2412, Eukaryota |
GeneTreei | ENSGT00390000012903 |
HOGENOMi | CLU_024662_1_0_1 |
InParanoidi | Q53GS7 |
OMAi | FWKLLPD |
OrthoDBi | 379050at2759 |
PhylomeDBi | Q53GS7 |
TreeFami | TF324158 |
Family and domain databases
Gene3Di | 1.25.40.510, 1 hit |
InterProi | View protein in InterPro IPR012476, GLE1 IPR038506, GLE1-like_sf |
PANTHERi | PTHR12960, PTHR12960, 1 hit |
Pfami | View protein in Pfam PF07817, GLE1, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q53GS7-1) [UniParc]FASTAAdd to basket
Also known as: hGle1B
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPSEGRCWET LKALRSSDKG RLCYYRDWLL RREDVLEECM SLPKLSSYSG
60 70 80 90 100
WVVEHVLPHM QENQPLSETS PSSTSASALD QPSFVPKSPD ASSAFSPASP
110 120 130 140 150
ATPNGTKGKD ESQHTESMVL QSSRGIKVEG CVRMYELVHR MKGTEGLRLW
160 170 180 190 200
QEEQERKVQA LSEMASEQLK RFDEWKELKQ HKEFQDLREV MEKSSREALG
210 220 230 240 250
HQEKLKAEHR HRAKILNLKL REAEQQRVKQ AEQERLRKEE GQIRLRALYA
260 270 280 290 300
LQEEMLQLSQ QLDASEQHKA LLKVDLAAFQ TRGNQLCSLI SGIIRASSES
310 320 330 340 350
SYPTAESQAE AERALREMRD LLMNLGQEIT RACEDKRRQD EEEAQVKLQE
360 370 380 390 400
AQMQQGPEAH KEPPAPSQGP GGKQNEDLQV KVQDITMQWY QQLQDASMQC
410 420 430 440 450
VLTFEGLTNS KDSQAKKIKM DLQKAATIPV SQISTIAGSK LKEIFDKIHS
460 470 480 490 500
LLSGKPVQSG GRSVSVTLNP QGLDFVQYKL AEKFVKQGEE EVASHHEAAF
510 520 530 540 550
PIAVVASGIW ELHPRVGDLI LAHLHKKCPY SVPFYPTFKE GMALEDYQRM
560 570 580 590 600
LGYQVKDSKV EQQDNFLKRM SGMIRLYAAI IQLRWPYGNR QEIHPHGLNH
610 620 630 640 650
GWRWLAQILN MEPLSDVTAT LLFDFLEVCG NALMKQYQVQ FWKMLILIKE
660 670 680 690
DYFPRIEAIT SSGQMGSFIR LKQFLEKCLQ HKDIPVPKGF LTSSFWRS
Note: Major isoform.
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 83 | S → P in BAD96574 (Ref. 2) Curated | 1 | |
Sequence conflicti | 172 | F → S in BAD96562 (Ref. 2) Curated | 1 | |
Sequence conflicti | 549 | R → G in BAD96562 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_024056 | 130 | G → D1 PublicationCorresponds to variant dbSNP:rs17852725Ensembl. | 1 | |
Natural variantiVAR_043874 | 144 | T → TPFQ in LCCS1; allele Fin(Major); does not affect subcellular localization. 1 Publication | 1 | |
Natural variantiVAR_024057 | 243 | I → V. Corresponds to variant dbSNP:rs2275260EnsemblClinVar. | 1 | |
Natural variantiVAR_043875 | 569 | R → H in LCCS1. 1 PublicationCorresponds to variant dbSNP:rs121434407EnsemblClinVar. | 1 | |
Natural variantiVAR_024058 | 590 | R → Q1 PublicationCorresponds to variant dbSNP:rs17856852Ensembl. | 1 | |
Natural variantiVAR_043876 | 617 | V → M in CAAHD. 1 PublicationCorresponds to variant dbSNP:rs121434408EnsemblClinVar. | 1 | |
Natural variantiVAR_043877 | 684 | I → T in CAAHD. 1 PublicationCorresponds to variant dbSNP:rs121434409EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_016486 | 656 – 659 | IEAI → YQAC in isoform 2. 2 Publications | 4 | |
Alternative sequenceiVSP_016487 | 660 – 698 | Missing in isoform 2. 2 PublicationsAdd BLAST | 39 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF058922 mRNA Translation: AAC25561.1 AK222842 mRNA Translation: BAD96562.1 AK222854 mRNA Translation: BAD96574.1 AL445287 Genomic DNA No translation available. AL356481 Genomic DNA No translation available. BC030012 mRNA Translation: AAH30012.1 AL117584 mRNA Translation: CAB56006.1 |
CCDSi | CCDS35154.1 [Q53GS7-1] CCDS6904.1 [Q53GS7-2] |
PIRi | T17316 |
RefSeqi | NP_001003722.1, NM_001003722.1 [Q53GS7-1] NP_001490.1, NM_001499.2 [Q53GS7-2] |
Genome annotation databases
Ensembli | ENST00000309971; ENSP00000308622; ENSG00000119392 [Q53GS7-1] ENST00000372770; ENSP00000361856; ENSG00000119392 [Q53GS7-2] |
GeneIDi | 2733 |
KEGGi | hsa:2733 |
UCSCi | uc004bvi.4, human [Q53GS7-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF058922 mRNA Translation: AAC25561.1 AK222842 mRNA Translation: BAD96562.1 AK222854 mRNA Translation: BAD96574.1 AL445287 Genomic DNA No translation available. AL356481 Genomic DNA No translation available. BC030012 mRNA Translation: AAH30012.1 AL117584 mRNA Translation: CAB56006.1 |
CCDSi | CCDS35154.1 [Q53GS7-1] CCDS6904.1 [Q53GS7-2] |
PIRi | T17316 |
RefSeqi | NP_001003722.1, NM_001003722.1 [Q53GS7-1] NP_001490.1, NM_001499.2 [Q53GS7-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6B4F | X-ray | 2.81 | A/B | 382-698 | [»] | |
6B4I | X-ray | 3.62 | A/B | 382-698 | [»] | |
6B4J | X-ray | 3.40 | A/B | 382-698 | [»] | |
SMRi | Q53GS7 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108995, 34 interactors |
ComplexPortali | CPX-873, Nuclear pore complex |
CORUMi | Q53GS7 |
IntActi | Q53GS7, 20 interactors |
STRINGi | 9606.ENSP00000308622 |
Protein family/group databases
TCDBi | 1.I.1.1.3, the nuclear pore complex (npc) family 3.A.18.1.1, the nuclear mrna exporter (mrna-e) family |
PTM databases
iPTMneti | Q53GS7 |
PhosphoSitePlusi | Q53GS7 |
Polymorphism and mutation databases
BioMutai | GLE1 |
DMDMi | 83288218 |
Proteomic databases
EPDi | Q53GS7 |
jPOSTi | Q53GS7 |
MassIVEi | Q53GS7 |
MaxQBi | Q53GS7 |
PaxDbi | Q53GS7 |
PeptideAtlasi | Q53GS7 |
PRIDEi | Q53GS7 |
ProteomicsDBi | 62487 [Q53GS7-1] 62488 [Q53GS7-2] |
Protocols and materials databases
Antibodypediai | 31163, 202 antibodies |
DNASUi | 2733 |
Genome annotation databases
Ensembli | ENST00000309971; ENSP00000308622; ENSG00000119392 [Q53GS7-1] ENST00000372770; ENSP00000361856; ENSG00000119392 [Q53GS7-2] |
GeneIDi | 2733 |
KEGGi | hsa:2733 |
UCSCi | uc004bvi.4, human [Q53GS7-1] |
Organism-specific databases
CTDi | 2733 |
DisGeNETi | 2733 |
EuPathDBi | HostDB:ENSG00000119392.14 |
GeneCardsi | GLE1 |
HGNCi | HGNC:4315, GLE1 |
HPAi | ENSG00000119392, Low tissue specificity |
MalaCardsi | GLE1 |
MIMi | 253310, phenotype 603371, gene 611890, phenotype |
neXtProti | NX_Q53GS7 |
OpenTargetsi | ENSG00000119392 |
Orphaneti | 803, Amyotrophic lateral sclerosis 53696, Arthrogryposis-anterior horn cell disease syndrome 1486, Lethal congenital contracture syndrome type 1 |
PharmGKBi | PA28718 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2412, Eukaryota |
GeneTreei | ENSGT00390000012903 |
HOGENOMi | CLU_024662_1_0_1 |
InParanoidi | Q53GS7 |
OMAi | FWKLLPD |
OrthoDBi | 379050at2759 |
PhylomeDBi | Q53GS7 |
TreeFami | TF324158 |
Enzyme and pathway databases
PathwayCommonsi | Q53GS7 |
Reactomei | R-HSA-159236, Transport of Mature mRNA derived from an Intron-Containing Transcript |
Miscellaneous databases
BioGRID-ORCSi | 2733, 453 hits in 847 CRISPR screens |
ChiTaRSi | GLE1, human |
GeneWikii | GLE1L |
GenomeRNAii | 2733 |
Pharosi | Q53GS7, Tbio |
PROi | PR:Q53GS7 |
RNActi | Q53GS7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000119392, Expressed in female gonad and 227 other tissues |
Genevisiblei | Q53GS7, HS |
Family and domain databases
Gene3Di | 1.25.40.510, 1 hit |
InterProi | View protein in InterPro IPR012476, GLE1 IPR038506, GLE1-like_sf |
PANTHERi | PTHR12960, PTHR12960, 1 hit |
Pfami | View protein in Pfam PF07817, GLE1, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GLE1_HUMAN | |
Accessioni | Q53GS7Primary (citable) accession number: Q53GS7 Secondary accession number(s): O75458 Q9UFL6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 6, 2005 |
Last sequence update: | December 6, 2005 | |
Last modified: | December 2, 2020 | |
This is version 143 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations