Gene Gene information from NCBI Gene database.
Entrez ID 2733
Gene name GLE1 RNA export mediator
Gene symbol GLE1
Synonyms (NCBI Gene)
CAAHCCAAHDGLE1LLCCSLCCS1hGLE1
Chromosome 9
Chromosome location 9q34.11
Summary 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.
3
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.
365
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603371 4315 ENSG00000119392
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
236
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GLE1-related disorder Likely pathogenic; Pathogenic rs1156305904, rs1847710909 RCV004536753
RCV004534410
Lethal arthrogryposis-anterior horn cell disease syndrome Likely pathogenic; Pathogenic rs1564145502, rs2132430609, rs1847775573, rs1026034826, rs386833693, rs121434407, rs121434408, rs121434409, rs2540592843, rs775658412, rs1336481358, rs1589040836, rs765269946, rs374673335, rs772765696 RCV005040266
RCV005040378
RCV005042701
RCV005042595
RCV000049654
RCV000758083
RCV000006835
RCV000006836
RCV005047670
RCV005051410
RCV000758084
RCV000758085
RCV000758087
RCV005047038
RCV005040043
Lethal congenital contractural syndrome Finnish type Likely pathogenic; Pathogenic rs773083669, rs386833693, rs121434407, rs2540647541 RCV005614677
RCV001276648
RCV001276649
RCV005616737
Lethal congenital contracture syndrome 1 Likely pathogenic; Pathogenic rs1564145502, rs2132430609, rs1847775573, rs1026034826, rs386833693, rs121434407, rs2540592843, rs775658412, rs374673335, rs772765696 RCV005040266
RCV003444927
RCV005042701
RCV005042595
RCV000006833
RCV000006834
RCV005047670
RCV005051410
RCV005047038
RCV005040043
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs78624767 RCV005900502
Amyotrophic lateral sclerosis Uncertain significance rs1290402597, rs1564162129 RCV001843920
RCV001260203
Familial cancer of breast Benign rs201347017 RCV005936589
Lethal congenital contracture syndrome Uncertain significance rs886063492 RCV000310600
Associations from Text MiningDisease 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