MultifacetedProtDB - Bologna Biocomputing Group

PDB	Resolution (Å)	PDB name
7A5G	4.33	Structure of the elongating human mitoribosome bound to mtEF-Tu.GMPPCP and A/T mt-tRNA
7O9K	3.1	Human mitochondrial ribosome large subunit assembly intermediate with MTERF4-NSUN4, MRM2, MTG1, the MALSU module, GTPBP5 and mtEF-Tu

GO ontology	GO term	GO description
Biological Process	GO:0070125	mitochondrial translational elongation
Biological Process	GO:0045471	response to ethanol
Biological Process	GO:0006414	translational elongation
Molecular Function	GO:0005525	GTP binding
Molecular Function	GO:0003924	GTPase activity
Molecular Function	GO:0003723	RNA binding
Molecular Function	GO:0003746	translation elongation factor activity
Cellular Component	GO:0070062	extracellular exosome
Cellular Component	GO:0016020	membrane
Cellular Component	GO:0042645	mitochondrial nucleoid
Cellular Component	GO:0005741	mitochondrial outer membrane
Cellular Component	GO:0005739	mitochondrion
Cellular Component	GO:0045202	synapse

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
IPR004541	Translation elongation factor EFTu/EF1A, bacterial/organelle
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
IPR033720	Elongation factor Tu, domain 2
IPR041709	Elongation factor Tu (EF-Tu), GTP-binding domain

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 Name	Node type	Reactome Root	Reactome Root Name
R-HSA-5389840	Mitochondrial translation elongation	Leaf	R-HSA-392499	Metabolism of proteins
R-HSA-9754560	SARS-CoV-2 modulates autophagy	Leaf	R-HSA-1643685	Disease

Location	ECO term	Pubmed
Mitochondrion	ECO:0000269	PubMed:22749352

Phenotype

HPO ID	HPO name
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000639	Nystagmus
HP:0001257	Spasticity
HP:0001298	Encephalopathy
HP:0001319	Neonatal hypotonia
HP:0001511	Intrauterine growth retardation
HP:0001522	Death in infancy
HP:0001942	Metabolic acidosis
HP:0001987	Hyperammonemia
HP:0002126	Polymicrogyria
HP:0002151	Increased serum lactate
HP:0002179	Opisthotonus
HP:0002240	Hepatomegaly
HP:0002376	Developmental regression
HP:0002415	Leukodystrophy
HP:0002878	Respiratory failure
HP:0003128	Lactic acidosis
HP:0003593	Infantile onset

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Medium	Enhanced
adrenal gland	glandular cells	High	Enhanced
appendix	endocrine cells	High	Enhanced
appendix	enterocytes	High	Enhanced
appendix	germinal center cells	High	Enhanced
appendix	goblet cells	High	Enhanced
appendix	non-germinal center cells	High	Enhanced
bone marrow	hematopoietic cells	Medium	Enhanced
breast	adipocytes	Low	Enhanced
breast	glandular cells	Medium	Enhanced
breast	myoepithelial cells	High	Enhanced
bronchus	basal cells	High	Enhanced
bronchus	ciliated cells (cell body)	High	Enhanced
bronchus	ciliated cells (ciliary rootlets)	High	Enhanced
bronchus	goblet cells	High	Enhanced
caudate	glial cells	Medium	Enhanced
caudate	neuronal cells	Medium	Enhanced
cerebellum	Purkinje cells	Medium	Enhanced
cerebellum	cells in granular layer	Medium	Enhanced
cerebellum	cells in molecular layer	Medium	Enhanced
cerebral cortex	endothelial cells	Medium	Enhanced
cerebral cortex	glial cells	Medium	Enhanced
cerebral cortex	neuronal cells	Medium	Enhanced
cerebral cortex	neuropil	Medium	Enhanced
cervix	glandular cells	Medium	Enhanced
cervix	squamous epithelial cells	High	Enhanced
colon	endocrine cells	High	Enhanced
colon	enterocytes	High	Enhanced
colon	goblet cells	High	Enhanced
colon	mucosal lymphoid cells	Medium	Enhanced
colon	peripheral nerve/ganglion	Medium	Enhanced
duodenum	endocrine cells	High	Enhanced
duodenum	enterocytes	High	Enhanced
duodenum	glands of Brunner	Low	Enhanced
duodenum	goblet cells	High	Enhanced
duodenum	paneth cells	High	Enhanced
endometrium 1	cells in endometrial stroma	High	Enhanced
endometrium 1	glandular cells	High	Enhanced
endometrium 2	cells in endometrial stroma	Low	Enhanced
endometrium 2	glandular cells	High	Enhanced
epididymis	glandular cells	High	Enhanced
esophagus	squamous epithelial cells	High	Enhanced
fallopian tube	ciliated cells (cell body)	Low	Enhanced
gallbladder	glandular cells	High	Enhanced
heart muscle	cardiomyocytes	Medium	Enhanced
hippocampus	glial cells	Medium	Enhanced
hippocampus	neuronal cells	Medium	Enhanced
kidney	bowman's capsule	Medium	Enhanced
kidney	cells in glomeruli	Medium	Enhanced
kidney	collecting ducts	High	Enhanced
kidney	distal tubules	High	Enhanced
kidney	proximal tubules (cell body)	Medium	Enhanced
liver	cholangiocytes	Low	Enhanced
liver	hepatocytes	Medium	Enhanced
lung	alveolar cells type I	Low	Enhanced
lung	alveolar cells type II	Medium	Enhanced
lung	endothelial cells	Medium	Enhanced
lymph node	germinal center cells	High	Enhanced
lymph node	non-germinal center cells	High	Enhanced
nasopharynx	basal cells	High	Enhanced
nasopharynx	ciliated cells (cell body)	High	Enhanced
oral mucosa	squamous epithelial cells	High	Enhanced
ovary	follicle cells	High	Enhanced
ovary	ovarian stroma cells	High	Enhanced
pancreas	exocrine glandular cells	High	Enhanced
pancreas	pancreatic endocrine cells	High	Enhanced
parathyroid gland	glandular cells	High	Enhanced
placenta	decidual cells	High	Enhanced
placenta	trophoblastic cells	High	Enhanced
prostate	glandular cells	High	Enhanced
rectum	endocrine cells	High	Enhanced
rectum	enterocytes	High	Enhanced
rectum	goblet cells	High	Enhanced
rectum	mucosal lymphoid cells	Medium	Enhanced
rectum	peripheral nerve/ganglion	High	Enhanced
salivary gland	glandular cells	High	Enhanced
seminal vesicle	glandular cells	High	Enhanced
skeletal muscle	myocytes	Medium	Enhanced
skin 1	Langerhans	High	Enhanced
skin 1	fibroblasts	High	Enhanced
skin 1	keratinocytes	High	Enhanced
skin 1	melanocytes	High	Enhanced
skin 2	epidermal cells	High	Enhanced
small intestine	endocrine cells	High	Enhanced
small intestine	enterocytes	High	Enhanced
small intestine	goblet cells	High	Enhanced
small intestine	paneth cells	High	Enhanced
smooth muscle	smooth muscle cells	Medium	Enhanced
soft tissue 1	chondrocytes	Medium	Enhanced
soft tissue 1	fibroblasts	Medium	Enhanced
soft tissue 1	peripheral nerve	Low	Enhanced
soft tissue 2	fibroblasts	Medium	Enhanced
soft tissue 2	peripheral nerve	Medium	Enhanced
spleen	cells in red pulp	High	Enhanced
spleen	cells in white pulp	High	Enhanced
stomach 1	glandular cells	High	Enhanced
stomach 2	glandular cells	High	Enhanced
testis	Leydig cells	High	Enhanced
testis	elongated or late spermatids	High	Enhanced
testis	pachytene spermatocytes	High	Enhanced
testis	preleptotene spermatocytes	High	Enhanced
testis	round or early spermatids	High	Enhanced
testis	sertoli cells	Low	Enhanced
testis	spermatogonia cells	High	Enhanced
thyroid gland	glandular cells	High	Enhanced
tonsil	germinal center cells	High	Enhanced
tonsil	non-germinal center cells	High	Enhanced
tonsil	squamous epithelial cells	High	Enhanced
urinary bladder	urothelial cells	High	Enhanced
vagina	squamous epithelial cells	High	Enhanced

Summary of P49411

Gene: TUFM
Protein: Elongation factor Tu, mitochondrial

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of P49411

Gene: TUFM Protein: Elongation factor Tu, mitochondrial

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: TUFM
Protein: Elongation factor Tu, mitochondrial