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

Gene ID: 2733, updated on 22-May-2016
Official Symbol
GLE1provided by HGNC
Official Full Name
GLE1, RNA export mediatorprovided by HGNC
Primary source
HGNC:HGNC:4315
See related
Ensembl:ENSG00000119392 HPRD:04536; MIM:603371; Vega:OTTHUMG00000020749
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; 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]
Orthologs
Location:
9q34.11
Exon count:
19
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 9 NC_000009.12 (128504692..128542301)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131266971..131304580)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene protein PAT1 homolog 1-like Neighboring gene outer dense fiber of sperm tails 2 Neighboring gene uncharacterized LOC101929270 Neighboring gene spectrin alpha, non-erythrocytic 1 Neighboring gene WD repeat domain 34 Neighboring gene vesicle transport through interaction with t-SNAREs 1B pseudogene 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Lethal arthrogryposis with anterior horn cell disease
MedGen: C2678471 OMIM: 611890 GeneReviews: Not available
Compare labs
Lethal congenital contracture syndrome 1
MedGen: C1854664 OMIM: 253310 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
inositol hexakisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
translation initiation factor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
mRNA export from nucleus TAS
Traceable Author Statement
more info
PubMed 
poly(A)+ mRNA export from nucleus IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of translational initiation IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of translational termination IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear pore TAS
Traceable Author Statement
more info
PubMed 
nuclear pore cytoplasmic filaments IBA
Inferred from Biological aspect of Ancestor
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
nucleoporin GLE1
Names
GLE1 RNA export mediator homolog
GLE1-like protein
GLE1-like, RNA export mediator

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_001003722.1NP_001003722.1  nucleoporin 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, OTTHUMP00000022281, ENST00000309971, OTTHUMT00000054456
    Conserved Domains (1) summary
    pfam07817
    Location:399651
    GLE1; GLE1-like protein
  2. NM_001499.2NP_001490.1  nucleoporin 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, OTTHUMP00000022280, ENST00000372770, OTTHUMT00000054455
    Conserved Domains (1) summary
    pfam07817
    Location:399651
    GLE1; GLE1-like protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

    Range
    128504692..128542301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518551.1XP_011516853.1  

    Conserved Domains (1) summary
    pfam07817
    Location:399660
    GLE1; GLE1-like protein
  2. XM_006717059.2XP_006717122.1  

    See identical proteins and their annotated locations for XP_006717122.1

    Conserved Domains (1) summary
    pfam07817
    Location:402663
    GLE1; GLE1-like protein
  3. XM_006717060.2XP_006717123.1  

    Conserved Domains (1) summary
    pfam07817
    Location:402654
    GLE1; GLE1-like protein
  4. XM_011518550.1XP_011516852.1  

    See identical proteins and their annotated locations for XP_011516852.1

    Conserved Domains (1) summary
    pfam07817
    Location:402663
    GLE1; GLE1-like protein
  5. XM_011518549.1XP_011516851.1  

    See identical proteins and their annotated locations for XP_011516851.1

    Conserved Domains (1) summary
    pfam07817
    Location:402663
    GLE1; GLE1-like protein
  6. XM_011518552.1XP_011516854.1  

    Conserved Domains (2) summary
    pfam05672
    Location:16142
    MAP7; MAP7 (E-MAP-115) family
    pfam07817
    Location:149410
    GLE1; GLE1-like protein

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    131417671..131455555
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)