MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
4.2.1.152	Lyases; Carbon-oxygen lyases; Hydro-lyases; hydroperoxy icosatetraenoate dehydratase
5.3.99.5	Isomerases; Intramolecular oxidoreductases; Other intramolecular oxidoreductases; thromboxane-A synthase

GO ontology	GO term	GO description
Biological Process	GO:0019371	cyclooxygenase pathway
Biological Process	GO:0006690	icosanoid metabolic process
Biological Process	GO:0030644	intracellular chloride ion homeostasis
Biological Process	GO:0045907	positive regulation of vasoconstriction
Biological Process	GO:0001516	prostaglandin biosynthetic process
Biological Process	GO:0045471	response to ethanol
Biological Process	GO:0070542	response to fatty acid
Molecular Function	GO:0036134	12-hydroxyheptadecatrienoic acid synthase activity
Molecular Function	GO:0020037	heme binding
Molecular Function	GO:0106256	hydroperoxy icosatetraenoate dehydratase activity
Molecular Function	GO:0005506	iron ion binding
Molecular Function	GO:0004497	monooxygenase activity
Molecular Function	GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
Molecular Function	GO:0004796	thromboxane-A synthase activity
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0005783	endoplasmic reticulum
Cellular Component	GO:0005789	endoplasmic reticulum membrane

Pfam	Pfam name
PF00067	Cytochrome P450

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-211979	Eicosanoids	Leaf	R-HSA-1430728	Metabolism
R-HSA-2162123	Synthesis of Prostaglandins (PG) and Thromboxanes (TX)	Leaf	R-HSA-1430728	Metabolism
R-HSA-5579032	Defective TBXAS1 causes GHDD	Leaf	R-HSA-1643685	Disease

Location	ECO term	Pubmed
Endoplasmic reticulum membrane	ECO:0000269	PubMed:8366093

HPO ID	HPO name
HP:0000007	Autosomal recessive inheritance
HP:0000944	Abnormal metaphysis morphology
HP:0001744	Splenomegaly
HP:0001873	Thrombocytopenia
HP:0001882	Leukopenia
HP:0001903	Anemia
HP:0002167	Abnormality of speech or vocalization
HP:0002644	Abnormal pelvic girdle bone morphology
HP:0002823	Abnormality of femur morphology
HP:0002992	Abnormality of tibia morphology
HP:0003103	Abnormal cortical bone morphology
HP:0003312	Abnormal form of the vertebral bodies
HP:0004493	Craniofacial hyperostosis
HP:0005019	Diaphyseal thickening
HP:0005505	Refractory anemia
HP:0005528	Bone marrow hypocellularity
HP:0005890	Hyperostosis cranialis interna
HP:0006487	Bowing of the long bones
HP:0010978	Abnormality of immune system physiology
HP:0011001	Increased bone mineral density
HP:0011974	Myelofibrosis
HP:0100252	Diaphyseal dysplasia

Tissue	Cell type	Expression level	Reliability
bone marrow	hematopoietic cells	Medium	Enhanced
caudate	glial cells	Medium	Enhanced
cerebellum	cells in granular layer	Medium	Enhanced
cerebellum	cells in molecular layer	Medium	Enhanced
cerebral cortex	glial cells	Medium	Enhanced
cerebral cortex	neuropil	Low	Enhanced
hippocampus	glial cells	Medium	Enhanced
kidney	collecting ducts	High	Enhanced
kidney	distal tubules	High	Enhanced
kidney	proximal tubules (cell body)	Low	Enhanced
kidney	proximal tubules (microvilli)	High	Enhanced
lung	macrophages	High	Enhanced
lymph node	germinal center cells	Low	Enhanced
lymph node	non-germinal center cells	Medium	Enhanced
spleen	cells in red pulp	Medium	Enhanced
testis	sertoli cells	Medium	Enhanced
tonsil	germinal center cells	Low	Enhanced
tonsil	non-germinal center cells	Medium	Enhanced
tonsil	squamous epithelial cells	Low	Enhanced