GLE1 - GLE1 RNA export mediator Gene

Homo sapiens

Also known as LCCS; CAAHC; CAAHD; GLE1L; LCCS1; hGLE1

Gene ID: 2733 | Gene type: protein coding

About GLE1

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:128,504,692-128,542,288 (from NCBI)

This gene has 15 transcripts (splice variants), 210 orthologues and is associated with 6 phenotypes. Ubiquitous expression in testis (RPKM 19.5), lymph node (RPKM 9.2) and 24 other tissues.

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]

GLE1 Products(3)

mRNA	Protein	Name
NM_001003722.2	NP_001003722.1	mRNA export factor GLE1 isoform 1
NM_001411013.1	NP_001397942.1	mRNA export factor GLE1 isoform 3
NM_001499.2	NP_001490.1	mRNA export factor GLE1 isoform 2

GLE1 Protein Structure

GLE1

0
200
400
600
698 a.a.

Protein Preferred Names

Protein Names

mRNA export factor GLE1

GLE1 RNA export mediator homolog

Related Diseases

Diseases

Alias

Lethal Congenital Contracture Syndrome 1

LCCS1	Multiple Contracture Syndrome, Finnish Type
Lccs	Lethal Autosomal Recessive Syndrome Of Multiple Congenital Contractures
Lethal Congenital Contracture Syndrome Type 1	Herva Disease
Multiple Contracture Syndrome Finnish Type	Contracture Syndrome, Lethal, Congenital, Type 1

Congenital Arthrogryposis With Anterior Horn Cell Disease

CAAHD	Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal Arthrogryposis-Anterior Horn Cell Disease Syndrome	Lethal Arthrogryposis With Anterior Horn Cell Disease, Formerly
Laahd, Formerly	Arthrogryposis-Anterior Horn Cell Disease Syndrome
Aahd	Vuopala Disease
Laahd	Arthrogryposis, Lethal, With Anterior Horn Cell Disease

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Lethal Congenital Contracture Syndrome

Lccs	Lethal Congenital Contracture Syndrome 1

Anterior Horn Cell Disease

Lethal Congenital Contracture Syndrome 2

LCCS2	Lethal Congenital Contractural Syndrome 2
Multiple Contracture Syndrome, Israeli-Bedouin Type	Multiple Contracture Syndrome, Israeli Bedouin Type A
Multiple Contracture Syndrome, Israeli Bedouin Type	Lethal Congenital Contracture Syndrome Type 2
Israeli Bedouin Multiple Contracture Syndrome Type A	Contracture Syndrome, Lethal, Congenital, Type 2

Cranioectodermal Dysplasia 4

CED4	Sensenbrenner Syndrome 4
Dysplasia, Cranioectodermal, Type 4

Arthrogryposis, Distal, Type 4

Distal Arthrogryposis Type 4	DA4
Daiid	Arthrogryposis-Severe Scoliosis Syndrome
Distal Arthrogryposis Type Iid	Arthrogryposis With Severe Scoliosis
Arthrogryposis, Distal, Type Iid

Arthrogryposis, Distal, Type 10

DA10	Distal Arthrogryposis Type 10
Short Achilles Tendon	Plantar Flexion Contracture
Short Tendo Calcaneus	Congenital Plantar Contractures
Tendo Calcaneus, Short

Arthrogryposis, Distal, Type 5

Oculomelic Amyoplasia	Distal Arthrogryposis Type 5
Distal Arthrogryposis Type Iib	DA5
Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities	Daiib
Distal Arthrogryposis Type 2b	Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Distal Arthrogryposis With Ophthalmoplegia	Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome
Arthrogryposis, Distal, Type Iib	Da2b
Freeman-Sheldon Syndrome Variant	Sheldon-Hall Syndrome
Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities	Arthrogryposis Ophthalmoplegia Retinopathy
Arthrogryposis, Distal, 5	Arthrogryposis, Distal, Type 2b

Myasthenic Syndrome, Congenital, 4b, Fast-Channel

Congenital Myasthenic Syndrome 4b	CMS4B
Congenital Myasthenic Syndrome 4b Fast-Channel	Myasthenic Syndrome, Congenital, Type 4b, Fast-Channel

Respiratory Failure

Acute Respiratory Failure	Chronic Respiratory Failure
Respiratory Insufficiency	Acute-On-Chronic Respiratory Failure
Respiratory Disease	Acute And Chronic Respiratory Failure
Respiratory Insufficiency/Failure	Chronic Respiratory Disease
Pulmonary Valve Insufficiency	Chronic Disease Of Respiratory System
Respiration Disorders	Respiratory Tract Diseases
Lung Failure Nos	Pulmonary Failure
Arf - [Acute Respiratory Failure]	Acute Respiratory Insufficiency
Acute Pulmonary Insufficiency	Acute Respiration Failure
Chronic Respiration Failure

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Achalasia-Addisonianism-Alacrima Syndrome

Allgrove Syndrome	Triple-A Syndrome
Achalasia-Addisonianism-Alacrimia Syndrome	Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder
Triple A Syndrome	Aaa Syndrome
AAAS	Glucocorticoid Deficiency With Achalasia
Glucocorticoid Deficiency And Achalasia	Addisonian-Achalasia Syndrome
Hypoadrenalism With Achalasia	Alacrima-Achalasia-Addisonianism
Aaa	Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima
Achalasia Addisonianism Alacrimia Syndrome	Achalasia Alacrima Syndrome
Addisonian Achalasia Syndrome	Achalasia-Addisonian Syndrome
Achalasia-Alacrima Syndrome	2a Syndrome
3a Syndrome	4a Syndrome
Adrenal Insufficiency-Achalasia-Alacrima Syndrome	Double A Syndrome
Quaternary A Syndrome	Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima
Allgrove'S Syndrome	Adrenal Gland Hypofunction
Adrenal Cortical Hypofunction

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 4c	CMS4C
Cms Id	Cms1d
Congenital Myasthenic Syndrome Type Id	Fim1
Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, Type Id
Cms1d, Formerly	Cms Id, Formerly
Myasthenia, Familial Infantile, 1, Formerly	Fim1, Formerly
Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency	Familial Infantile Myasthenia 1
Cms1e	Cms-Achrd
Cms Ie	Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency
Congenital Myasthenic Syndrome Type 1d	Congenital Myasthenic Syndrome Type 1e
Congenital Myasthenic Syndrome Type Ie	Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency
Myasthenia, Familial Infantile, 1	Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency
Myasthenic Syndrome, Congenital, Ie

Arthrogryposis, Distal, Type 7

Hecht Syndrome	Trismus-Pseudocamptodactyly Syndrome
Distal Arthrogryposis Type 7	Dutch-Kentucky Syndrome
DA7	Hecht-Beals Syndrome
Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons	Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons
Arthrogryposis Distal Type 7	Trismus Pseudocamptodactyly Syndrome
Arthrogryposis, Distal, 7

Osteogenesis Imperfecta, Type I

Osteogenesis Imperfecta Type I	OI1
Oi, Type I	Osteogenesis Imperfecta Tarda
Osteogenesis Imperfecta With Blue Sclerae	Osteogenesis Imperfecta Type 1
Adair-Dighton Syndrome	Mild Osteogenesis Imperfecta
Non-Deforming Osteogenesis Imperfecta	Oi Type 1
Van Der Hoeve Syndrome	Classic Non-Deforming Oi With Blue Sclerae
Osteogenesis Imperfecta 1	Oi-I
Osteopenic Non-Fracture Syndrome	Osteogenesis Imperfecta, Mild
Osteogenesis Imperfecta	Lobstein'S Disease

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence	Fads
Fetal Akinesia Sequence	FADS1
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia	Pena-Shokeir Syndrome Type 1
Fetal Akinesia Deformation Sequence Syndrome	Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia	Pena-Shokeir Syndrome, Type I
Foetal Akinesia Deformation Sequence Syndrome	Foetal Akinesia Sequence
Fetal Akinesia Deformation Sequence Syndrome 1	Pena-Shokeir Syndrome, Type 1
Pena Shokeir Syndrome, Type 1	Akinesia, Fetal, Deformation Sequence
Akinesia, Fetal, Deformation Sequence, Type 1	Pena-Shokeir Syndrome Type I

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1	Frontotemporal Dementia And/Or Motor Neuron Disease
Ftdmnd	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia
Alsftd	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1	Frontotemporal Dementia With Motor Neuron Disease
Ftdals	Ftd-Als
Ftd-Mnd	Frontotemporal Dementia With Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1
Frontotemporal Lobar Degeneration	Grn-Related Frontotemporal Dementia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05470	GLE1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GLE1	RGD	RGD:1307329
Canis familiaris	GLE1	VGNC	VGNC:41254
Mus musculus	GLE1	MGD	MGI:1921662
Macaca mulatta	GLE1	VGNC	VGNC:73067
Felis catus	GLE1	VGNC	VGNC:62576
Bos taurus	GLE1	VGNC	VGNC:29397

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