Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2733
Gene name Gene Name - the full gene name approved by the HGNC.
GLE1 RNA export mediator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GLE1
Synonyms (NCBI Gene) Gene synonyms aliases
CAAHC, CAAHD, GLE1L, LCCS, LCCS1, hGLE1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.11
Summary Summary of gene provided in NCBI Entrez Gene.
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 o
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs146800850 G>A Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Missense variant, coding sequence variant
rs386833693 A>C,G,T Pathogenic Intron variant
rs1589040836 TCTCT>- Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020250 hsa-miR-130b-3p Sequencing 20371350
MIRT028211 hsa-miR-33a-5p Sequencing 20371350
MIRT1020683 hsa-miR-103a CLIP-seq
MIRT1020684 hsa-miR-107 CLIP-seq
MIRT1020685 hsa-miR-1184 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000822 Function Inositol hexakisphosphate binding IBA
GO:0005515 Function Protein binding IPI 18724935, 24243016, 32814053
GO:0005543 Function Phospholipid binding IBA
GO:0005615 Component Extracellular space HDA 22664934
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603371 4315 ENSG00000119392
Protein
UniProt ID Q53GS7
Protein name mRNA export factor GLE1 (hGLE1) (GLE1 RNA export mediator) (GLE1-like protein) (Nucleoporin GLE1)
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). {ECO:0000269|PubMed:12668658, ECO:0000269|PubMed:16
PDB 6B4F , 6B4I , 6B4J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07817 GLE1 397 649 GLE1-like protein Family
Sequence
MPSEGRCWETLKALRSSDKGRLCYYRDWLLRREDVLEECMSLPKLSSYSGWVVEHVLPHM
QENQPLSETSPSSTSASALDQPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVL
QSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERKVQALSEMASEQLKRFDEWKELKQ
HKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLRKEE
GQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQTRGNQLCSLISGIIRASSES
SYPTAESQAEAERALREMRDLLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQGPEAH
KEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDASMQCVLTFEGLTNSKDSQAKKIKM
DLQKAATIPVSQISTIAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTLNPQGLDFVQYKL
AEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKE
GMALEDYQRMLGYQVKDSKVEQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNH
GWRWLAQILNMEPLSDVTATLLFDFLEVCGNALMKQYQVQFWKMLILIK
EDYFPRIEAIT
SSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS
Sequence length 698
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Nucleocytoplasmic transport
mRNA surveillance pathway
Amyotrophic lateral sclerosis
  Transport of Mature mRNA derived from an Intron-Containing Transcript
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Lethal Arthrogryposis With Anterior Horn Cell Disease Lethal arthrogryposis-anterior horn cell disease syndrome rs121434407, rs121434408, rs121434409, rs1336481358, rs1589040836, rs765269946, rs386833693 N/A
Lethal Congenital Contracture Syndrome lethal congenital contracture syndrome 1 rs121434407, rs386833693 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis N/A N/A ClinVar, GenCC
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 25694449, 32537934
Arthrogryposis Associate 28729373, 32981894
Contracture Associate 24243016, 28729373, 32537934
Feeding and Eating Disorders Associate 28884921
Fetal akinesia syndrome X linked Associate 24961629, 28729373
Growth Disorders Associate 32537934
Hypersensitivity Delayed Associate 28884921
Language Disorders Associate 32537934
Lethal Arthrogryposis With Anterior Horn Cell Disease Associate 28884921, 32537934
Lethal congenital contracture syndrome 1 Associate 24243016, 32537934