MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
6.3.5.4	Ligases; Forming carbon-nitrogen bonds; Carbon-nitrogen ligases with glutamine as amido-N-donor; asparagine synthase (glutamine-hydrolysing)

PDB	Resolution (Å)	PDB name
6GQ3	1.85	Human asparagine synthetase (ASNS) in complex with 6-diazo-5-oxo-L-norleucine (DON) at 1.85 A resolution

GO ontology	GO term	GO description
Biological Process	GO:0070981	L-asparagine biosynthetic process
Biological Process	GO:0006529	asparagine biosynthetic process
Biological Process	GO:0042149	cellular response to glucose starvation
Biological Process	GO:0006541	glutamine metabolic process
Biological Process	GO:0043066	negative regulation of apoptotic process
Biological Process	GO:0045931	positive regulation of mitotic cell cycle
Molecular Function	GO:0005524	ATP binding
Molecular Function	GO:0004066	asparagine synthase (glutamine-hydrolyzing) activity
Cellular Component	GO:0005829	cytosol

InterPro	InterPro name
IPR001962	Asparagine synthase
IPR006426	Asparagine synthase, glutamine-hydrolyzing
IPR014729	Rossmann-like alpha/beta/alpha sandwich fold
IPR017932	Glutamine amidotransferase type 2 domain
IPR029055	Nucleophile aminohydrolases, N-terminal
IPR033738	Asparagine synthase, N-terminal domain

Pfam	Pfam name
PF00733	Asparagine synthase
PF13537	Glutamine amidotransferase domain

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-380994	ATF4 activates genes in response to endoplasmic reticulum stress	Leaf	R-HSA-8953897	Cellular responses to stimuli
R-HSA-8963693	Aspartate and asparagine metabolism	Leaf	R-HSA-1430728	Metabolism
R-HSA-9633012	Response of EIF2AK4 (GCN2) to amino acid deficiency	Leaf	R-HSA-8953897	Cellular responses to stimuli
R-HSA-9648895	Response of EIF2AK1 (HRI) to heme deficiency	Leaf	R-HSA-8953897	Cellular responses to stimuli

HPO ID	HPO name
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000253	Progressive microcephaly
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000400	Macrotia
HP:0001176	Large hands
HP:0001250	Seizure
HP:0001298	Encephalopathy
HP:0001321	Cerebellar hypoplasia
HP:0001347	Hyperreflexia
HP:0001508	Failure to thrive
HP:0001833	Long foot
HP:0002079	Hypoplasia of the corpus callosum
HP:0002093	Respiratory insufficiency
HP:0002119	Ventriculomegaly
HP:0002267	Exaggerated startle response
HP:0002509	Limb hypertonia
HP:0002510	Spastic tetraplegia
HP:0002521	Hypsarrhythmia
HP:0002539	Cortical dysplasia
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0003676	Progressive
HP:0008936	Axial hypotonia
HP:0009110	Diaphragmatic eventration
HP:0009879	Simplified gyral pattern
HP:0010851	EEG with burst suppression
HP:0011344	Severe global developmental delay
HP:0011968	Feeding difficulties
HP:0012110	Hypoplasia of the pons
HP:0012448	Delayed myelination
HP:0012736	Profound global developmental delay
HP:0100704	Cerebral visual impairment

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Low	Approved
appendix	lymphoid tissue	Medium	Approved
bone marrow	hematopoietic cells	Low	Approved
caudate	neuronal cells	Medium	Approved
cerebellum	Purkinje cells	High	Approved
cerebellum	cells in molecular layer	Low	Approved
cerebral cortex	neuronal cells	Medium	Approved
cervix	glandular cells	Medium	Approved
colon	endothelial cells	Low	Approved
colon	glandular cells	Low	Approved
duodenum	glandular cells	Low	Approved
epididymis	glandular cells	Medium	Approved
esophagus	squamous epithelial cells	Low	Approved
gallbladder	glandular cells	Medium	Approved
heart muscle	cardiomyocytes	Low	Approved
hippocampus	neuronal cells	Low	Approved
lymph node	germinal center cells	Medium	Approved
lymph node	non-germinal center cells	Low	Approved
pancreas	exocrine glandular cells	High	Approved
pancreas	pancreatic endocrine cells	Low	Approved
placenta	trophoblastic cells	High	Approved
rectum	glandular cells	Medium	Approved
salivary gland	glandular cells	Medium	Approved
seminal vesicle	glandular cells	Low	Approved
skin 2	epidermal cells	Low	Approved
stomach 1	glandular cells	High	Approved
stomach 2	glandular cells	Medium	Approved
testis	Leydig cells	Low	Approved
testis	elongated or late spermatids	Low	Approved
testis	round or early spermatids	Medium	Approved
testis	spermatogonia cells	Low	Approved
tonsil	germinal center cells	High	Approved
tonsil	non-germinal center cells	Low	Approved