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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
GLE1-related disorder Likely pathogenic; Pathogenic rs1156305904, rs1847710909 RCV004536753
RCV004534410
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (10 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lethal congenital contractural syndrome Finnish type Likely pathogenic; Pathogenic rs773083669, rs386833693, rs121434407, rs2540647541 RCV005614677
RCV001276648
RCV001276649
RCV005616737
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lethal congenital contracture syndrome 1 Likely pathogenic; Pathogenic rs1564145502, rs2132430609, rs1847775573, rs1026034826, rs386833693, rs121434407, rs2540592843, rs775658412, rs374673335, rs772765696 RCV005040266
RCV003444927
RCV005042701
RCV005042595
RCV000006833
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis Uncertain significance ClinVar
ClinGen, Disgenet, GWAS catalog, Orphanet
ClinGen, Disgenet, GWAS catalog, Orphanet
ClinGen, Disgenet, GWAS catalog, Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ARTHROGRYPOSIS-ANTERIOR HORN CELL DISEASE SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amniotic Bands Amniotic Bands HPO_DG
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 25343993, 28980860, 29398120
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis ORPHANET_DG 25343993
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 25694449, 32537934 Associate
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis HPO_DG
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Anterior Horn Cell Disease Anterior Horn Cell Disease HPO_DG
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Arthrogryposis Arthrogryposis multiplex congenita BEFREE 27684565, 28657126
★☆☆☆☆
Found in Text Mining only
Arthrogryposis Arthrogryposis Pubtator 28729373, 32981894 Associate
★☆☆☆☆
Found in Text Mining only