MultifacetedProtDB - Bologna Biocomputing Group

Structure

PDB	Resolution (Å)	PDB name
6B4F	2.811	Crystal structure of human Gle1 CTD-Nup42 GBM complex
6B4I	3.619	Crystal structure of human Gle1 CTD-Nup42 GBM-DDX19B(ADP) complex
6B4J	3.4	Crystal structure of human Gle1 CTD-Nup42 GBM-DDX19B(AMPPNP) complex

GO term

GO ontology	GO term	GO description
Biological Process	GO:0006406	mRNA export from nucleus
Biological Process	GO:0006913	nucleocytoplasmic transport
Biological Process	GO:0016973	poly(A)+ mRNA export from nucleus
Biological Process	GO:0015031	protein transport
Molecular Function	GO:0042802	identical protein binding
Molecular Function	GO:0000822	inositol hexakisphosphate binding
Molecular Function	GO:0005543	phospholipid binding
Molecular Function	GO:0031369	translation initiation factor binding
Cellular Component	GO:0005814	centriole
Cellular Component	GO:0005813	centrosome
Cellular Component	GO:0036064	ciliary basal body
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0005615	extracellular space
Cellular Component	GO:0016020	membrane
Cellular Component	GO:0005635	nuclear envelope
Cellular Component	GO:0031965	nuclear membrane
Cellular Component	GO:0005643	nuclear pore
Cellular Component	GO:0044614	nuclear pore cytoplasmic filaments
Cellular Component	GO:0005730	nucleolus

InterPro	InterPro name
IPR012476	mRNA export factor GLE1-like
IPR038506	GLE1-like superfamily

Pfam	Pfam name
PF07817	GLE1-like protein

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-159236	Transport of Mature mRNA derived from an Intron-Containing Transcript	Leaf	R-HSA-8953854	Metabolism of RNA

Location	ECO term	Pubmed
Cytoplasm	ECO:0000269	PubMed:12668658
Nucleus	ECO:0000269	PubMed:12668658
Nucleus, nuclear pore complex	ECO:0000269	PubMed:12668658

Phenotype

HPO ID	HPO name
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000217	Xerostomia
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000278	Retrognathia
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000368	Low-set, posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000494	Downslanted palpebral fissures
HP:0000508	Ptosis
HP:0000545	Myopia
HP:0000712	Emotional lability
HP:0000713	Agitation
HP:0000716	Depression
HP:0000739	Anxiety
HP:0000765	Abnormal thorax morphology
HP:0000772	Abnormal rib morphology
HP:0000954	Single transverse palmar crease
HP:0000969	Edema
HP:0001188	Hand clenching
HP:0001250	Seizure
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001270	Motor delay
HP:0001290	Generalized hypotonia
HP:0001332	Dystonia
HP:0001348	Brisk reflexes
HP:0001349	Facial diplegia
HP:0001376	Limitation of joint mobility
HP:0001385	Hip dysplasia
HP:0001560	Abnormality of the amniotic fluid
HP:0001561	Polyhydramnios
HP:0001762	Talipes equinovarus
HP:0001838	Rocker bottom foot
HP:0001989	Fetal akinesia sequence
HP:0002017	Nausea and vomiting
HP:0002058	Myopathic facies
HP:0002059	Cerebral atrophy
HP:0002089	Pulmonary hypoplasia
HP:0002094	Dyspnea
HP:0002180	Neurodegeneration
HP:0002300	Mutism
HP:0002355	Difficulty walking
HP:0002522	Areflexia of lower limbs
HP:0002540	Inability to walk
HP:0002650	Scoliosis
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0002757	Recurrent fractures
HP:0002795	Abnormal respiratory system physiology
HP:0002804	Arthrogryposis multiplex congenita
HP:0002808	Kyphosis
HP:0002878	Respiratory failure
HP:0003100	Slender long bone
HP:0003103	Abnormal cortical bone morphology
HP:0003202	Skeletal muscle atrophy
HP:0003272	Abnormal hip bone morphology
HP:0003312	Abnormal form of the vertebral bodies
HP:0003324	Generalized muscle weakness
HP:0003394	Muscle spasm
HP:0003470	Paralysis
HP:0003477	Peripheral axonal neuropathy
HP:0003577	Congenital onset
HP:0003811	Neonatal death
HP:0003828	Variable expressivity
HP:0004322	Short stature
HP:0004571	Widening of cervical spinal canal
HP:0006802	Abnormal anterior horn cell morphology
HP:0007277	Paucity of anterior horn motor neurons
HP:0007354	Amyotrophic lateral sclerosis
HP:0007373	Motor neuron atrophy
HP:0009004	Hypoplasia of the musculature
HP:0009775	Amniotic constriction ring
HP:0009811	Abnormality of the elbow
HP:0011220	Prominent forehead
HP:0011968	Feeding difficulties
HP:0012378	Fatigue
HP:0012531	Pain
HP:0025425	Laryngospasm
HP:0030192	Fatigable weakness of bulbar muscles
HP:0030195	Fatigable weakness of swallowing muscles
HP:0030196	Fatigable weakness of respiratory muscles

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Medium	Supported
adrenal gland	glandular cells	Medium	Supported
appendix	glandular cells	Medium	Supported
appendix	lymphoid tissue	Medium	Supported
bone marrow	hematopoietic cells	Medium	Supported
breast	adipocytes	Low	Supported
breast	glandular cells	Medium	Supported
breast	myoepithelial cells	Medium	Supported
bronchus	respiratory epithelial cells	Medium	Supported
caudate	glial cells	Medium	Supported
caudate	neuronal cells	Medium	Supported
cerebellum	Purkinje cells	Medium	Supported
cerebellum	cells in granular layer	Medium	Supported
cerebellum	cells in molecular layer	Medium	Supported
cerebral cortex	glial cells	Medium	Supported
cerebral cortex	neuronal cells	Medium	Supported
cerebral cortex	neuropil	Low	Supported
cervix	glandular cells	Medium	Supported
cervix	squamous epithelial cells	Medium	Supported
colon	endothelial cells	Medium	Supported
colon	glandular cells	Medium	Supported
colon	peripheral nerve/ganglion	Medium	Supported
duodenum	glandular cells	Medium	Supported
endometrium 1	cells in endometrial stroma	Medium	Supported
endometrium 1	glandular cells	Medium	Supported
endometrium 2	cells in endometrial stroma	Low	Supported
endometrium 2	glandular cells	Medium	Supported
epididymis	glandular cells	Medium	Supported
esophagus	squamous epithelial cells	Medium	Supported
fallopian tube	glandular cells	Medium	Supported
gallbladder	glandular cells	Medium	Supported
heart muscle	cardiomyocytes	Medium	Supported
hippocampus	glial cells	Medium	Supported
hippocampus	neuronal cells	Medium	Supported
kidney	cells in glomeruli	Medium	Supported
kidney	cells in tubules	Medium	Supported
liver	cholangiocytes	Medium	Supported
liver	hepatocytes	Medium	Supported
lung	alveolar cells type I	Medium	Supported
lung	alveolar cells type II	High	Supported
lung	endothelial cells	Medium	Supported
lung	macrophages	High	Supported
lymph node	germinal center cells	Medium	Supported
lymph node	non-germinal center cells	Medium	Supported
nasopharynx	respiratory epithelial cells	Medium	Supported
oral mucosa	squamous epithelial cells	Medium	Supported
ovary	ovarian stroma cells	Medium	Supported
pancreas	exocrine glandular cells	Medium	Supported
pancreas	pancreatic endocrine cells	Medium	Supported
parathyroid gland	glandular cells	Medium	Supported
placenta	cytotrophoblasts	Medium	Supported
placenta	endothelial cells	High	Supported
placenta	hofbauer cells	High	Supported
placenta	syncytiotrophoblasts - cell body	High	Supported
placenta	syncytiotrophoblasts - microvilli	High	Supported
prostate	glandular cells	Medium	Supported
rectum	glandular cells	Medium	Supported
salivary gland	glandular cells	Medium	Supported
seminal vesicle	glandular cells	Medium	Supported
skeletal muscle	myocytes	Medium	Supported
skin 1	Langerhans	Medium	Supported
skin 1	fibroblasts	Medium	Supported
skin 1	keratinocytes	Medium	Supported
skin 1	melanocytes	Medium	Supported
skin 2	epidermal cells	Medium	Supported
small intestine	glandular cells	Medium	Supported
smooth muscle	smooth muscle cells	Medium	Supported
soft tissue 1	fibroblasts	Medium	Supported
soft tissue 1	peripheral nerve	Medium	Supported
soft tissue 2	chondrocytes	Medium	Supported
soft tissue 2	fibroblasts	Medium	Supported
spleen	cells in red pulp	Medium	Supported
spleen	cells in white pulp	Medium	Supported
stomach 1	glandular cells	Medium	Supported
stomach 2	glandular cells	Medium	Supported
testis	Leydig cells	High	Supported
testis	pachytene spermatocytes	Medium	Supported
testis	sertoli cells	High	Supported
testis	spermatogonia cells	High	Supported
thyroid gland	glandular cells	Medium	Supported
tonsil	germinal center cells	Medium	Supported
tonsil	non-germinal center cells	Medium	Supported
tonsil	squamous epithelial cells	Medium	Supported
urinary bladder	urothelial cells	Medium	Supported
vagina	squamous epithelial cells	Medium	Supported

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
amyotrophic lateral sclerosis	MONDO:0004976	G12	chapter6, Diseases of the nervous system		Orphanet:803
lethal congenital contracture syndrome 1	MONDO:0009670	Q68	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:253310	Orphanet:1486
lethal arthrogryposis-anterior horn cell disease syndrome	MONDO:0012750	Q74	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:611890	Orphanet:53696

Summary of Q53GS7

Gene: GLE1, GLE1L
Protein: mRNA export factor GLE1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of Q53GS7

Gene: GLE1, GLE1L Protein: mRNA export factor GLE1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: GLE1, GLE1L
Protein: mRNA export factor GLE1