GLE1 - GLE1 RNA export mediator Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2733

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	24243016	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18724935	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centriole	IDA IDA: Inferred from direct assay	28035044	GOA
located in centrosome	IDA IDA: Inferred from direct assay	28035044	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	28035044	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	24315095	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

GLE1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GLE1	Q53GS7	GLE1	Homo sapiens	Q53GS7	EM	24243016
Intra	GLE1	Q53GS7	GLE1	Homo sapiens	Q53GS7	Solution Sedimentation	24243016
Intra	GLE1	Q53GS7	GLE1	Homo sapiens	Q53GS7	Pull Down	24243016
Intra	GLE1	Q53GS7	EIF3F	Homo sapiens	O00303	Y2H	24243016
Intra	GLE1	Q53GS7	BEX3	Homo sapiens	Q00994	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-170430	HGC652	Ligand	98.86%	Unkown
HY-RS05470	GLE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	GLE1	NCBI