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Protein

Nucleoporin GLE1

Gene

GLE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Biological processi

Keywordsi

Biological processmRNA transport, Protein transport, Translocation, Transport

Enzyme and pathway databases

ReactomeiR-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript

Protein family/group databases

TCDBi1.I.1.1.3 the eukaryotic nuclear pore complex (e-npc) family
3.A.18.1.1 the nuclear mrna exporter (mrna-e) family

Names & Taxonomyi

Protein namesi
Recommended name:
Nucleoporin GLE1
Short name:
hGLE1
Alternative name(s):
GLE1-like protein
Gene namesi
Name:GLE1
Synonyms:GLE1L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000119392.14
HGNCiHGNC:4315 GLE1
MIMi603371 gene
neXtProtiNX_Q53GS7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nuclear pore complex, Nucleus

Pathology & 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.
See also OMIM:253310
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043874144T → TPFQ in LCCS1; allele Fin(Major); does not affect subcellular localization. 1 Publication1
Natural variantiVAR_043875569R → H in LCCS1. 1 PublicationCorresponds to variant dbSNP:rs121434407EnsemblClinVar.1
Lethal arthrogryposis with anterior horn cell disease (LAAHD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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 also OMIM:611890
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043876617V → M in LAAHD. 1 PublicationCorresponds to variant dbSNP:rs121434408EnsemblClinVar.1
Natural variantiVAR_043877684I → T in LAAHD. 1 PublicationCorresponds to variant dbSNP:rs121434409EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2733
MalaCardsiGLE1
MIMi253310 phenotype
611890 phenotype
OpenTargetsiENSG00000119392
Orphaneti53696 Lethal arthrogryposis - anterior horn cell disease
1486 Lethal congenital contracture syndrome type 1
PharmGKBiPA28718

Polymorphism and mutation databases

BioMutaiGLE1
DMDMi83288218

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002048221 – 698Nucleoporin GLE1Add BLAST698

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei41PhosphoserineCombined sources1
Modified residuei88PhosphoserineCombined sources1
Modified residuei99PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ53GS7
MaxQBiQ53GS7
PaxDbiQ53GS7
PeptideAtlasiQ53GS7
PRIDEiQ53GS7
ProteomicsDBi62487
62488 [Q53GS7-2]

PTM databases

iPTMnetiQ53GS7
PhosphoSitePlusiQ53GS7

Expressioni

Gene expression databases

BgeeiENSG00000119392 Expressed in 211 organ(s), highest expression level in female gonad
CleanExiHS_GLE1
GenevisibleiQ53GS7 HS

Organism-specific databases

HPAiHPA041689
HPA043538
HPA061560

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 NUPL2. Isoform 2 does not interact with NUPL2. Able to form a heterotrimer with NUP155 and NUPL2 in vitro.2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108995, 28 interactors
CORUMiQ53GS7
IntActiQ53GS7, 13 interactors
STRINGi9606.ENSP00000308622

Structurei

Secondary structure

1698
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ53GS7
SMRiQ53GS7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 29Interaction with NUP155Add BLAST29
Regioni444 – 483Mediates the shuttling between the nucleus and the cytoplasmAdd BLAST40
Regioni656 – 698Interaction with NUPL21 PublicationAdd BLAST43

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili151 – 277Sequence analysisAdd BLAST127
Coiled coili305 – 356Sequence analysisAdd BLAST52

Sequence similaritiesi

Belongs to the GLE1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG2412 Eukaryota
ENOG410XT57 LUCA
GeneTreeiENSGT00390000012903
HOGENOMiHOG000246966
HOVERGENiHBG081558
InParanoidiQ53GS7
KOiK18723
OMAiFWKLLPD
OrthoDBiEOG091G0AZV
PhylomeDBiQ53GS7
TreeFamiTF324158

Family and domain databases

Gene3Di1.25.40.510, 1 hit
InterProiView protein in InterPro
IPR012476 GLE1
IPR038506 GLE1-like_sf
PANTHERiPTHR12960 PTHR12960, 1 hit
PfamiView protein in Pfam
PF07817 GLE1, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q53GS7-1) [UniParc]FASTAAdd to basket
Also known as: hGle1B

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.

« Hide
        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.
Length:698
Mass (Da):79,836
Last modified:December 6, 2005 - v2
Checksum:iF9FC04683BCCDBB2
GO
Isoform 2 (identifier: Q53GS7-2) [UniParc]FASTAAdd to basket
Also known as: hGle1A

The sequence of this isoform differs from the canonical sequence as follows:
     656-659: IEAI → YQAC
     660-698: Missing.

Show »
Length:659
Mass (Da):75,407
Checksum:iC97A3FFE7E7581B5
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti83S → P in BAD96574 (Ref. 2) Curated1
Sequence conflicti172F → S in BAD96562 (Ref. 2) Curated1
Sequence conflicti549R → G in BAD96562 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024056130G → D1 PublicationCorresponds to variant dbSNP:rs17852725Ensembl.1
Natural variantiVAR_043874144T → TPFQ in LCCS1; allele Fin(Major); does not affect subcellular localization. 1 Publication1
Natural variantiVAR_024057243I → V. Corresponds to variant dbSNP:rs2275260EnsemblClinVar.1
Natural variantiVAR_043875569R → H in LCCS1. 1 PublicationCorresponds to variant dbSNP:rs121434407EnsemblClinVar.1
Natural variantiVAR_024058590R → Q1 PublicationCorresponds to variant dbSNP:rs17856852Ensembl.1
Natural variantiVAR_043876617V → M in LAAHD. 1 PublicationCorresponds to variant dbSNP:rs121434408EnsemblClinVar.1
Natural variantiVAR_043877684I → T in LAAHD. 1 PublicationCorresponds to variant dbSNP:rs121434409EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_016486656 – 659IEAI → YQAC in isoform 2. 2 Publications4
Alternative sequenceiVSP_016487660 – 698Missing in isoform 2. 2 PublicationsAdd BLAST39

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
CCDSiCCDS35154.1 [Q53GS7-1]
CCDS6904.1 [Q53GS7-2]
PIRiT17316
RefSeqiNP_001003722.1, NM_001003722.1 [Q53GS7-1]
NP_001490.1, NM_001499.2 [Q53GS7-2]
UniGeneiHs.522418

Genome annotation databases

EnsembliENST00000309971; ENSP00000308622; ENSG00000119392 [Q53GS7-1]
ENST00000372770; ENSP00000361856; ENSG00000119392 [Q53GS7-2]
GeneIDi2733
KEGGihsa:2733
UCSCiuc004bvi.4 human [Q53GS7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS35154.1 [Q53GS7-1]
CCDS6904.1 [Q53GS7-2]
PIRiT17316
RefSeqiNP_001003722.1, NM_001003722.1 [Q53GS7-1]
NP_001490.1, NM_001499.2 [Q53GS7-2]
UniGeneiHs.522418

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6B4FX-ray2.81A/B382-698[»]
6B4IX-ray3.62A/B382-698[»]
6B4JX-ray3.40A/B382-698[»]
ProteinModelPortaliQ53GS7
SMRiQ53GS7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108995, 28 interactors
CORUMiQ53GS7
IntActiQ53GS7, 13 interactors
STRINGi9606.ENSP00000308622

Protein family/group databases

TCDBi1.I.1.1.3 the eukaryotic nuclear pore complex (e-npc) family
3.A.18.1.1 the nuclear mrna exporter (mrna-e) family

PTM databases

iPTMnetiQ53GS7
PhosphoSitePlusiQ53GS7

Polymorphism and mutation databases

BioMutaiGLE1
DMDMi83288218

Proteomic databases

EPDiQ53GS7
MaxQBiQ53GS7
PaxDbiQ53GS7
PeptideAtlasiQ53GS7
PRIDEiQ53GS7
ProteomicsDBi62487
62488 [Q53GS7-2]

Protocols and materials databases

DNASUi2733
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000309971; ENSP00000308622; ENSG00000119392 [Q53GS7-1]
ENST00000372770; ENSP00000361856; ENSG00000119392 [Q53GS7-2]
GeneIDi2733
KEGGihsa:2733
UCSCiuc004bvi.4 human [Q53GS7-1]

Organism-specific databases

CTDi2733
DisGeNETi2733
EuPathDBiHostDB:ENSG00000119392.14
GeneCardsiGLE1
HGNCiHGNC:4315 GLE1
HPAiHPA041689
HPA043538
HPA061560
MalaCardsiGLE1
MIMi253310 phenotype
603371 gene
611890 phenotype
neXtProtiNX_Q53GS7
OpenTargetsiENSG00000119392
Orphaneti53696 Lethal arthrogryposis - anterior horn cell disease
1486 Lethal congenital contracture syndrome type 1
PharmGKBiPA28718
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2412 Eukaryota
ENOG410XT57 LUCA
GeneTreeiENSGT00390000012903
HOGENOMiHOG000246966
HOVERGENiHBG081558
InParanoidiQ53GS7
KOiK18723
OMAiFWKLLPD
OrthoDBiEOG091G0AZV
PhylomeDBiQ53GS7
TreeFamiTF324158

Enzyme and pathway databases

ReactomeiR-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript

Miscellaneous databases

ChiTaRSiGLE1 human
GeneWikiiGLE1L
GenomeRNAii2733
PROiPR:Q53GS7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119392 Expressed in 211 organ(s), highest expression level in female gonad
CleanExiHS_GLE1
GenevisibleiQ53GS7 HS

Family and domain databases

Gene3Di1.25.40.510, 1 hit
InterProiView protein in InterPro
IPR012476 GLE1
IPR038506 GLE1-like_sf
PANTHERiPTHR12960 PTHR12960, 1 hit
PfamiView protein in Pfam
PF07817 GLE1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGLE1_HUMAN
AccessioniPrimary (citable) accession number: Q53GS7
Secondary accession number(s): O75458
, Q53GT9, Q5VVU1, Q8NCP6, Q9UFL6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: December 6, 2005
Last modified: October 10, 2018
This is version 127 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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