MultifacetedProtDB - Bologna Biocomputing Group

Summary of Q05639

Gene: EEF1A2, EEF1AL, STN
Protein: Elongation factor 1-alpha 2

Protein family
Protein sequence
Protein function

Catalytic activity

The protein has not catalytic activity

Publications

Structure

PDB	Resolution (Å)	PDB name
3C5J	1.8	Crystal structure of HLA DR52c
8B6Z	2.9	CryoEM Structure of Extended eEF1A bound to the Ribosome in the Classical Pre State

GO term

GO ontology	GO term	GO description
Biological Process	GO:0043065	positive regulation of apoptotic process
Biological Process	GO:0090218	positive regulation of lipid kinase activity
Biological Process	GO:1904714	regulation of chaperone-mediated autophagy
Biological Process	GO:0006412	translation
Biological Process	GO:0006414	translational elongation
Molecular Function	GO:0005525	GTP binding
Molecular Function	GO:0003924	GTPase activity
Molecular Function	GO:0019901	protein kinase binding
Molecular Function	GO:0003746	translation elongation factor activity
Molecular Function	GO:0008135	translation factor activity, RNA binding
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0098574	cytoplasmic side of lysosomal membrane
Cellular Component	GO:0005853	eukaryotic translation elongation factor 1 complex
Cellular Component	GO:0045202	synapse

InterPro / Pfam

InterPro	InterPro name
IPR000795	Translational (tr)-type GTP-binding domain
IPR004160	Translation elongation factor EFTu/EF1A, C-terminal
IPR004161	Translation elongation factor EFTu-like, domain 2
IPR004539	Translation elongation factor EF1A, eukaryotic/archaeal
IPR009000	Translation protein, beta-barrel domain superfamily
IPR009001	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal
IPR027417	P-loop containing nucleoside triphosphate hydrolase
IPR031157	Tr-type G domain, conserved site

Pfam	Pfam name
PF00009	Elongation factor Tu GTP binding domain
PF03143	Elongation factor Tu C-terminal domain
PF03144	Elongation factor Tu domain 2

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-156842	Eukaryotic Translation Elongation	Internal node	R-HSA-392499	Metabolism of proteins

Subcellular location

Location	ECO term	Pubmed
Nucleus	ECO:0000250

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000218	High palate
HP:0000232	Everted lower lip vermilion
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0000348	High forehead
HP:0000369	Low-set ears
HP:0000490	Deeply set eye
HP:0000494	Downslanted palpebral fissures
HP:0000504	Abnormality of vision
HP:0000508	Ptosis
HP:0000546	Retinal degeneration
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000668	Hypodontia
HP:0000708	Atypical behavior
HP:0000717	Autism
HP:0000718	Aggressive behavior
HP:0000729	Autistic behavior
HP:0000733	Abnormal repetitive mannerisms
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001268	Mental deterioration
HP:0001273	Abnormal corpus callosum morphology
HP:0001290	Generalized hypotonia
HP:0001298	Encephalopathy
HP:0001315	Reduced tendon reflexes
HP:0001319	Neonatal hypotonia
HP:0001336	Myoclonus
HP:0001337	Tremor
HP:0001344	Absent speech
HP:0001508	Failure to thrive
HP:0001558	Decreased fetal movement
HP:0001762	Talipes equinovarus
HP:0002020	Gastroesophageal reflux
HP:0002059	Cerebral atrophy
HP:0002063	Rigidity
HP:0002069	Bilateral tonic-clonic seizure
HP:0002133	Status epilepticus
HP:0002311	Incoordination
HP:0002317	Unsteady gait
HP:0002355	Difficulty walking
HP:0002360	Sleep disturbance
HP:0002376	Developmental regression
HP:0002421	Poor head control
HP:0002509	Limb hypertonia
HP:0002521	Hypsarrhythmia
HP:0002714	Downturned corners of mouth
HP:0003577	Congenital onset
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0003763	Bruxism
HP:0004305	Involuntary movements
HP:0004322	Short stature
HP:0005280	Depressed nasal bridge
HP:0005484	Secondary microcephaly
HP:0007018	Attention deficit hyperactivity disorder
HP:0008935	Generalized neonatal hypotonia
HP:0010804	Tented upper lip vermilion
HP:0010818	Generalized tonic seizure
HP:0010844	EEG with multifocal slow activity
HP:0010864	Intellectual disability, severe
HP:0011097	Epileptic spasm
HP:0011147	Typical absence seizure
HP:0011412	Ventouse delivery
HP:0011443	Abnormality of coordination
HP:0011968	Feeding difficulties
HP:0012167	Hair-pulling
HP:0012444	Brain atrophy
HP:0012447	Abnormal myelination
HP:0012469	Infantile spasms
HP:0012547	Abnormal involuntary eye movements
HP:0032794	Myoclonic seizure
HP:0100660	Dyskinesia
HP:0100710	Impulsivity
HP:0100716	Self-injurious behavior
HP:0200134	Epileptic encephalopathy

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adrenal gland	glandular cells	Medium	Approved
caudate	glial cells	Low	Approved
caudate	neuronal cells	High	Approved
cerebellum	Purkinje cells	High	Approved
cerebellum	cells in granular layer	Low	Approved
cerebellum	cells in molecular layer	High	Approved
cerebral cortex	endothelial cells	Low	Approved
cerebral cortex	neuronal cells	High	Approved
cerebral cortex	neuropil	Low	Approved
esophagus	squamous epithelial cells	Low	Approved
heart muscle	cardiomyocytes	Medium	Approved
hippocampus	neuronal cells	High	Approved
oral mucosa	squamous epithelial cells	Low	Approved
pancreas	pancreatic endocrine cells	Medium	Approved
seminal vesicle	glandular cells	Low	Approved
skeletal muscle	myocytes	Medium	Approved
testis	Leydig cells	Medium	Approved
testis	elongated or late spermatids	Medium	Approved
testis	spermatogonia cells	Medium	Approved

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
intellectual disability, autosomal dominant 38	MONDO:0014617	F70	chapter5, Mental and behavioural disorders	OMIM:616393
developmental and epileptic encephalopathy, 33	MONDO:0014625	G40	chapter6, Diseases of the nervous system	OMIM:616409
autosomal dominant non-syndromic intellectual disability	MONDO:0015802	F70	chapter5, Mental and behavioural disorders		Orphanet:178469

Summary of Q05639

Gene: EEF1A2, EEF1AL, STN Protein: Elongation factor 1-alpha 2

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: EEF1A2, EEF1AL, STN
Protein: Elongation factor 1-alpha 2