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Q53GS7 (GLE1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 91. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nucleoporin GLE1

Short name=hGLE1
Alternative name(s):
GLE1-like protein
Gene names
Name:GLE1
Synonyms:GLE1L
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length698 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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). Ref.1 Ref.6 Ref.8

Subunit structure

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. Ref.7 Ref.8

Subcellular location

Nucleus. Cytoplasm. Note: Shuttles between the nucleus and the cytoplasm. Shuttling is essential for its mRNA export function. Ref.6

Isoform 1: Cytoplasm. Nucleusnuclear 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. Ref.6

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

Sequence similarities

Belongs to the GLE1 family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

itself5EBI-1955541,EBI-1955541
EIF3FO003032EBI-1955541,EBI-711990

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q53GS7-1)

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.
Note: Major isoform.
Isoform 2 (identifier: Q53GS7-2)

Also known as: hGle1A;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 698698Nucleoporin GLE1
PRO_0000204822

Regions

Region1 – 2929Interaction with NUP155
Region444 – 48340Mediates the shuttling between the nucleus and the cytoplasm
Region656 – 69843Interaction with NUPL2
Coiled coil151 – 277127 Potential
Coiled coil305 – 35652 Potential

Amino acid modifications

Modified residue881Phosphoserine Ref.9 Ref.10
Modified residue991Phosphoserine Ref.10

Natural variations

Alternative sequence656 – 6594IEAI → YQAC in isoform 2.
VSP_016486
Alternative sequence660 – 69839Missing in isoform 2.
VSP_016487
Natural variant1301G → D. Ref.4
Corresponds to variant rs17852725 [ dbSNP | Ensembl ].
VAR_024056
Natural variant1441T → TPFQ in LCCS1; allele Fin(Major); does not affect subcellular localization.
VAR_043874
Natural variant2431I → V.
Corresponds to variant rs2275260 [ dbSNP | Ensembl ].
VAR_024057
Natural variant5691R → H in LCCS1. Ref.11
VAR_043875
Natural variant5901R → Q. Ref.4
Corresponds to variant rs17856852 [ dbSNP | Ensembl ].
VAR_024058
Natural variant6171V → M in LAAHD. Ref.11
VAR_043876
Natural variant6841I → T in LAAHD. Ref.11
VAR_043877

Experimental info

Sequence conflict831S → P in BAD96574. Ref.2
Sequence conflict1721F → S in BAD96562. Ref.2
Sequence conflict5491R → G in BAD96562. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (hGle1B) [UniParc].

Last modified December 6, 2005. Version 2.
Checksum: F9FC04683BCCDBB2

FASTA69879,836
        10         20         30         40         50         60 
MPSEGRCWET LKALRSSDKG RLCYYRDWLL RREDVLEECM SLPKLSSYSG WVVEHVLPHM 

        70         80         90        100        110        120 
QENQPLSETS PSSTSASALD QPSFVPKSPD ASSAFSPASP ATPNGTKGKD ESQHTESMVL 

       130        140        150        160        170        180 
QSSRGIKVEG CVRMYELVHR MKGTEGLRLW QEEQERKVQA LSEMASEQLK RFDEWKELKQ 

       190        200        210        220        230        240 
HKEFQDLREV MEKSSREALG HQEKLKAEHR HRAKILNLKL REAEQQRVKQ AEQERLRKEE 

       250        260        270        280        290        300 
GQIRLRALYA LQEEMLQLSQ QLDASEQHKA LLKVDLAAFQ TRGNQLCSLI SGIIRASSES 

       310        320        330        340        350        360 
SYPTAESQAE AERALREMRD LLMNLGQEIT RACEDKRRQD EEEAQVKLQE AQMQQGPEAH 

       370        380        390        400        410        420 
KEPPAPSQGP GGKQNEDLQV KVQDITMQWY QQLQDASMQC VLTFEGLTNS KDSQAKKIKM 

       430        440        450        460        470        480 
DLQKAATIPV SQISTIAGSK LKEIFDKIHS LLSGKPVQSG GRSVSVTLNP QGLDFVQYKL 

       490        500        510        520        530        540 
AEKFVKQGEE EVASHHEAAF PIAVVASGIW ELHPRVGDLI LAHLHKKCPY SVPFYPTFKE 

       550        560        570        580        590        600 
GMALEDYQRM LGYQVKDSKV EQQDNFLKRM SGMIRLYAAI IQLRWPYGNR QEIHPHGLNH 

       610        620        630        640        650        660 
GWRWLAQILN MEPLSDVTAT LLFDFLEVCG NALMKQYQVQ FWKMLILIKE DYFPRIEAIT 

       670        680        690 
SSGQMGSFIR LKQFLEKCLQ HKDIPVPKGF LTSSFWRS 

« Hide

Isoform 2 (hGle1A) [UniParc].

Checksum: C97A3FFE7E7581B5
Show »

FASTA65975,407

References

« Hide 'large scale' references
[1]"The human homologue of Saccharomyces cerevisiae Gle1p is required for poly(A)+ RNA export."
Watkins J.L., Murphy R., Emtage J.L.T., Wente S.R.
Proc. Natl. Acad. Sci. U.S.A. 95:6779-6784(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION.
Tissue: Brain.
[2]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Liver.
[3]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ASP-130 AND GLN-590.
Tissue: Testis.
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 136-698 (ISOFORM 1).
[6]"An essential role for hGle1 nucleocytoplasmic shuttling in mRNA export."
Kendirgi F., Barry D.M., Griffis E.R., Powers M.A., Wente S.R.
J. Cell Biol. 160:1029-1040(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), FUNCTION, SUBCELLULAR LOCATION.
[7]"The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155."
Rayala H.J., Kendirgi F., Barry D.M., Majerus P.W., Wente S.R.
Mol. Cell. Proteomics 3:145-155(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH NUP155.
[8]"Interaction between the shuttling mRNA export factor Gle1 and the nucleoporin hCG1: a conserved mechanism in the export of Hsp70 mRNA."
Kendirgi F., Rexer D.J., Alcazar-Roman A.R., Onishko H.M., Wente S.R.
Mol. Biol. Cell 16:4304-4315(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH NUPL2 AND NUP155.
[9]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-88, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[10]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-88 AND SER-99, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease."
Nousiainen H.O., Kestilae M., Pakkasjaervi N., Honkala H., Kuure S., Tallila J., Vuopala K., Ignatius J., Herva R., Peltonen L.
Nat. Genet. 40:155-157(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LCCS1 PRO-PHE-GLN-144 INS AND HIS-569, VARIANTS LAAHD MET-617 AND THR-684, CHARACTERIZATION OF VARIANT LCCS1 PRO-PHE-GLN-144 INS.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF058922 mRNA. Translation: AAC25561.1.
AK222842 mRNA. Translation: BAD96562.1.
AK222854 mRNA. Translation: BAD96574.1.
AL445287, AL356481 Genomic DNA. Translation: CAH71064.1.
AL445287, AL356481 Genomic DNA. Translation: CAH71065.1.
AL356481, AL445287 Genomic DNA. Translation: CAH71402.1.
AL356481, AL445287 Genomic DNA. Translation: CAH71403.1.
BC030012 mRNA. Translation: AAH30012.1.
AL117584 mRNA. Translation: CAB56006.1.
PIRT17316.
RefSeqNP_001003722.1. NM_001003722.1.
NP_001490.1. NM_001499.2.
UniGeneHs.522418.

3D structure databases

ProteinModelPortalQ53GS7.
SMRQ53GS7. Positions 381-686.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108995. 7 interactions.
IntActQ53GS7. 4 interactions.
MINTMINT-4535009.
STRING9606.ENSP00000308622.

Protein family/group databases

TCDB3.A.18.1.1. the nuclear mrna exporter (mrna-e) family.

PTM databases

PhosphoSiteQ53GS7.

Polymorphism databases

DMDM83288218.

Proteomic databases

PaxDbQ53GS7.
PRIDEQ53GS7.

Protocols and materials databases

DNASU2733.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000309971; ENSP00000308622; ENSG00000119392. [Q53GS7-1]
ENST00000372770; ENSP00000361856; ENSG00000119392. [Q53GS7-2]
GeneID2733.
KEGGhsa:2733.
UCSCuc004bvi.3. human. [Q53GS7-2]
uc004bvj.3. human. [Q53GS7-1]

Organism-specific databases

CTD2733.
GeneCardsGC09P131266.
HGNCHGNC:4315. GLE1.
HPAHPA041689.
HPA043538.
MIM253310. phenotype.
603371. gene.
611890. phenotype.
neXtProtNX_Q53GS7.
Orphanet53696. Lethal arthrogryposis - anterior horn cell disease.
1486. Lethal congenital contracture syndrome type 1.
PharmGKBPA28718.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG330485.
HOGENOMHOG000246966.
HOVERGENHBG081558.
InParanoidQ53GS7.
OMASQHTESM.
OrthoDBEOG7FFMRB.
PhylomeDBQ53GS7.
TreeFamTF324158.

Gene expression databases

ArrayExpressQ53GS7.
BgeeQ53GS7.
CleanExHS_GLE1.
GenevestigatorQ53GS7.

Family and domain databases

InterProIPR012476. GLE1.
[Graphical view]
PANTHERPTHR12960. PTHR12960. 1 hit.
PfamPF07817. GLE1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGLE1L.
GenomeRNAi2733.
NextBio10770.
PROQ53GS7.
SOURCESearch...

Entry information

Entry nameGLE1_HUMAN
AccessionPrimary (citable) accession number: Q53GS7
Secondary accession number(s): O75458 expand/collapse secondary AC list , Q53GT9, Q5VVU1, Q8NCP6, Q9UFL6
Entry history
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: December 6, 2005
Last modified: April 16, 2014
This is version 91 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM