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GLE1 GLE1 RNA export mediator [ Homo sapiens (human) ]

Gene ID: 2733, updated on 5-Jan-2022

Summary

Official Symbol
GLE1provided by HGNC
Official Full Name
GLE1 RNA export mediatorprovided by HGNC
Primary source
HGNC:HGNC:4315
See related
Ensembl:ENSG00000119392 MIM:603371
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LCCS; CAAHC; CAAHD; GLE1L; LCCS1; hGLE1
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 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]
Expression
Ubiquitous expression in testis (RPKM 19.5), lymph node (RPKM 9.2) and 24 other tissues See more
Orthologs
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Genomic context

See GLE1 in Genome Data Viewer
Location:
9q34.11
Exon count:
19
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (128504692..128542292)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131266971..131304567)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene outer dense fiber of sperm tails 2 Neighboring gene ODF2 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 9551 Neighboring gene uncharacterized LOC101929270 Neighboring gene RNA, U7 small nuclear 171 pseudogene Neighboring gene spectrin alpha, non-erythrocytic 1 Neighboring gene dynein 2 intermediate chain 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Lethal arthrogryposis with anterior horn cell disease
MedGen: C5193016 OMIM: 611890 GeneReviews: Not available
Compare labs
Lethal congenital contracture syndrome 1
MedGen: C1854664 OMIM: 253310 GeneReviews: Not available
Compare labs
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables inositol hexakisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables translation initiation factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in mRNA export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in poly(A)+ mRNA export from nucleus IEA
Inferred from Electronic Annotation
more info
 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of translational initiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of translational termination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in extracellular space HDA PubMed 
located_in membrane HDA PubMed 
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
 
part_of nuclear pore cytoplasmic filaments IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
mRNA export factor GLE1
Names
GLE1 RNA export mediator homolog
GLE1-like protein
GLE1-like, RNA export mediator
nucleoporin GLE1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012073.1 RefSeqGene

    Range
    5001..42610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_484

mRNA and Protein(s)

  1. NM_001003722.2NP_001003722.1  mRNA export factor GLE1 isoform 1

    See identical proteins and their annotated locations for NP_001003722.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA806769, AF058922, AL117584, BM786801
    Consensus CDS
    CCDS35154.1
    UniProtKB/Swiss-Prot
    Q53GS7
    Related
    ENSP00000308622.5, ENST00000309971.9
    Conserved Domains (1) summary
    pfam07817
    Location:410647
    GLE1; GLE1-like protein
  2. NM_001499.2NP_001490.1  mRNA export factor GLE1 isoform 2

    See identical proteins and their annotated locations for NP_001490.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 3' sequence, as compared to variant 1. The encoded isoform 2 has a shorter and distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AF058922, AK001767, AK074801, BC030012, BM786801
    Consensus CDS
    CCDS6904.1
    UniProtKB/Swiss-Prot
    Q53GS7
    UniProtKB/TrEMBL
    B3KMG0
    Related
    ENSP00000361856.4, ENST00000372770.4
    Conserved Domains (1) summary
    pfam07817
    Location:410647
    GLE1; GLE1-like protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    128504692..128542292
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518551.2XP_011516853.1  mRNA export factor GLE1 isoform X2

    Related
    ENSP00000507377.1, ENST00000683748.1
    Conserved Domains (1) summary
    pfam07817
    Location:410656
    GLE1; GLE1-like protein
  2. XM_006717059.3XP_006717122.1  mRNA export factor GLE1 isoform X1

    See identical proteins and their annotated locations for XP_006717122.1

    Conserved Domains (1) summary
    pfam07817
    Location:413659
    GLE1; GLE1-like protein
  3. XM_006717060.3XP_006717123.1  mRNA export factor GLE1 isoform X3

    Conserved Domains (2) summary
    pfam07817
    Location:413650
    GLE1; GLE1-like protein
    cl25732
    Location:150357
    SMC_N; RecF/RecN/SMC N terminal domain
  4. XM_011518550.1XP_011516852.1  mRNA export factor GLE1 isoform X1

    See identical proteins and their annotated locations for XP_011516852.1

    Conserved Domains (1) summary
    pfam07817
    Location:413659
    GLE1; GLE1-like protein
  5. XM_024447519.1XP_024303287.1  mRNA export factor GLE1 isoform X3

    Conserved Domains (2) summary
    pfam07817
    Location:413650
    GLE1; GLE1-like protein
    cl25732
    Location:150357
    SMC_N; RecF/RecN/SMC N terminal domain
  6. XM_011518549.1XP_011516851.1  mRNA export factor GLE1 isoform X1

    See identical proteins and their annotated locations for XP_011516851.1

    Conserved Domains (1) summary
    pfam07817
    Location:413659
    GLE1; GLE1-like protein
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