Human Gene GLE1 (uc004bvj.3) Description and Page Index
  Description: Homo sapiens GLE1 RNA export mediator homolog (yeast) (GLE1), transcript variant 1, mRNA.
RefSeq Summary (NM_001003722): This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr9:131,266,971-131,304,580 Size: 37,610 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr9:131,267,085-131,303,449 Size: 36,365 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:131,266,971-131,304,580)mRNA (may differ from genome)Protein (698 aa)
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UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: GLE1_HUMAN
DESCRIPTION: RecName: Full=Nucleoporin GLE1; Short=hGLE1; AltName: Full=GLE1-like protein;
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).
SUBUNIT: 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.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm. Shuttling is essential for its mRNA export function.
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Nucleus, nuclear 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.
DISEASE: Defects in GLE1 are the cause of lethal congenital contracture syndrome type 1 (LCCS1) [MIM:253310]; also known as multiple contracture syndrome type Finnish. LCCS is an autosomal recessive disorder characterized by early fetal hydrops and akinesia, micrognatia, pulmonary hypoplasia, pterygia, multiple joint contractures, specific neuropathology with degeneration of anterior horn neurons and extreme skeletal muscle atrophy. LCCS1 leads to prenatal death.
DISEASE: Defects in GLE1 are the cause of lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890]. LAAHD is characterized by fetal akinesia, arthrogryposis and motor neuron loss. LAADH fetus often survive delivery, but die early as a result of respiratory failure. Neuropathological findings resemble those of LCCS1, but are less severe.
SIMILARITY: Belongs to the GLE1 family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GLE1
CDC HuGE Published Literature: GLE1

-  MalaCards Disease Associations
  MalaCards Gene Search: GLE1
Diseases sorted by gene-association score: lethal congenital contracture syndrome 1* (1710), arthrogryposis, lethal, with anterior horn cell disease* (1650), amyotrophic lateral sclerosis 1* (74), lethal congenital contracture syndrome (60), anterior horn cell disease (37), splenic flexure cancer (17), descending colon cancer (16), spongiotic dermatitis (15), lethal congenital contractural syndrome 2 (10), mental retardation, x-linked, syndromic 15 (9), keratinizing squamous cell carcinoma (9), long qt syndrome 6 (5), leber congenital amaurosis 2 (5), bruck syndrome (5), familial atrial fibrillation (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.84 RPKM in Testis
Total median expression: 485.41 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -40.00114-0.351 Picture PostScript Text
3' UTR -313.571131-0.277 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012476 - GLE1

Pfam Domains:
PF07817 - GLE1-like protein

ModBase Predicted Comparative 3D Structure on Q53GS7
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000822 inositol hexakisphosphate binding
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0031369 translation initiation factor binding
GO:0042802 identical protein binding

Biological Process:
GO:0006406 mRNA export from nucleus
GO:0006446 regulation of translational initiation
GO:0006449 regulation of translational termination
GO:0015031 protein transport
GO:0016973 poly(A)+ mRNA export from nucleus
GO:0051028 mRNA transport

Cellular Component:
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005643 nuclear pore
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0031965 nuclear membrane
GO:0044614 nuclear pore cytoplasmic filaments


-  Descriptions from all associated GenBank mRNAs
  BC030012 - Homo sapiens GLE1 RNA export mediator homolog (yeast), mRNA (cDNA clone MGC:26476 IMAGE:4829102), complete cds.
AK222854 - Homo sapiens mRNA for GLE1-like, RNA export mediator isoform 1 variant, clone: HEP10528.
AF058922 - Homo sapiens GLE1 (GLE1) mRNA, complete cds.
AK222842 - Homo sapiens mRNA for GLE1-like, RNA export mediator isoform 2 variant, clone: HEP08715.
DQ895309 - Synthetic construct Homo sapiens clone IMAGE:100009769; FLH183155.01L; RZPDo839G07139D GLE1 RNA export mediator-like (yeast) (GLE1L) gene, encodes complete protein.
EU176245 - Synthetic construct Homo sapiens clone IMAGE:100006431; FLH183159.01X; RZPDo839G07140D GLE1 RNA export mediator-like (yeast) (GLE1L) gene, encodes complete protein.
CU688798 - Synthetic construct Homo sapiens gateway clone IMAGE:100018420 5' read GLE1L mRNA.
KJ896889 - Synthetic construct Homo sapiens clone ccsbBroadEn_06283 GLE1 gene, encodes complete protein.
KR709496 - Synthetic construct Homo sapiens clone CCSBHm_00002795 GLE1 (GLE1) mRNA, encodes complete protein.
KR709497 - Synthetic construct Homo sapiens clone CCSBHm_00002796 GLE1 (GLE1) mRNA, encodes complete protein.
KR709498 - Synthetic construct Homo sapiens clone CCSBHm_00002797 GLE1 (GLE1) mRNA, encodes complete protein.
AK290533 - Homo sapiens cDNA FLJ77684 complete cds.
AK074801 - Homo sapiens cDNA FLJ90320 fis, clone NT2RP2001562, highly similar to Homo sapiens GLE1 (GLE1) mRNA.
AL117584 - Homo sapiens mRNA; cDNA DKFZp434L108 (from clone DKFZp434L108).
AK001767 - Homo sapiens cDNA FLJ10905 fis, clone OVARC1000014, highly similar to Nucleoporin GLE1.

-  Other Names for This Gene
  Alternate Gene Symbols: GLE1L, GLE1_HUMAN, NM_001003722, NP_001003722, O75458, Q53GS7, Q53GT9, Q5VVU1, Q8NCP6, Q9UFL6
UCSC ID: uc004bvj.3
RefSeq Accession: NM_001003722
Protein: Q53GS7 (aka GLE1_HUMAN)
CCDS: CCDS35154.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001003722.1
exon count: 16CDS single in 3' UTR: no RNA size: 3350
ORF size: 2097CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4394.00frame shift in genome: no % Coverage: 99.76
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
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