GLE1 GLE1 RNA export mediator homolog (yeast) [Homo sapiens] - Gene

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Summary

Official Symbol: GLE1provided by HGNC
Official Full Name: GLE1 RNA export mediator homolog (yeast)provided by HGNC
Primary source: 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]

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Genomic context

Location :: 9q34.11

Sequence :: Chromosome: 9; NC_000009.11 (131266971..131304580)

See GLE1 in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

defective zebrafish GLE1 function in human LCCS1 results in both neurogenic and non-neurogenic defects linked to the apoptosis of proliferative organ precursors
Title: A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Mutations in mRNA export mediator GLE1 result in fetal motoneuron disease.
Title: Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
The unique carboxyl-terminal 43 amino acid region of the hGle1B isoform mediates binding to the C-terminal non-phenylalanine- glycine region of the nucleoporin hCG1/NPL1.
Title: Interaction between the shuttling mRNA export factor Gle1 and the nucleoporin hCG1: a conserved mechanism in the export of Hsp70 mRNA.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Arthrogryposis, lethal, with anterior horn cell disease

MIM: 611890

Lethal congenital contracture syndrome 1

MIM: 253310

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Products	Interactant	Other Gene	Source	Pubs	Description
Q53GS7	O75694	NUP155	HPRD	PubMed
Q53GS7	O15504	NUPL2	HPRD	PubMed
BioGRID:108995	BioGRID:114214	EIF3F	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108995	BioGRID:110056	KRT10	BioGRID	PubMed	Two-hybrid
BioGRID:108995	BioGRID:114990	NUP155	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:108995	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108995	BioGRID:113997	UXT	BioGRID	PubMed	Two-hybrid

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

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
nuclear pore	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: nucleoporin GLE1

Names: nucleoporin GLE1; GLE1-like protein; GLE1-like, RNA export mediator

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NCBI Reference Sequences (RefSeq)

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

NG_012073.1 RefSeqGene

Range

5001..42610

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001003722.1 → NP_001003722.1 nucleoporin GLE1 isoform 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 (2) summary

PTZ00121
Location:142 – 361
Blast Score: 93

PTZ00121; MAEBL; Provisional

pfam07817
Location:399 – 651
Blast Score: 782

GLE1; GLE1-like protein
NM_001499.2 → NP_001490.1 nucleoporin GLE1 isoform 2

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/TrEMBL

B3KMG0

UniProtKB/Swiss-Prot

Q53GS7

Related

ENSP00000361856, OTTHUMP00000022280, ENST00000372770, OTTHUMT00000054455

Conserved Domains (2) summary

PTZ00121
Location:142 – 361
Blast Score: 92

PTZ00121; MAEBL; Provisional

pfam07817
Location:399 – 651
Blast Score: 782

GLE1; GLE1-like protein

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p5 Primary Assembly

Range

131266971..131304580

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

100879534..100916497

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL356481.16	CAH71402.1
		CAH71403.1
genomic	AL445287.16	CAH71064.1
		CAH71065.1
genomic	CH471090.1	EAW87802.1
		EAW87803.1
		EAW87804.1
mRNA	AA806769.1	None
mRNA	AF058922.1	AAC25561.1
mRNA	AK001767.1	BAG50972.1
mRNA	AK074801.1	None
mRNA	AK222842.1	BAD96562.1
mRNA	AK222854.1	BAD96574.1
mRNA	AK290533.1	BAF83222.1
mRNA	AL117584.1	CAB56006.1
mRNA	BC030012.1	AAH30012.1
mRNA	BM786801.1	None
other-genetic	DQ895309.2	ABM86235.1
other-genetic	EU176245.1	ABW03696.1