MultifacetedProtDB - Bologna Biocomputing Group

Catalytic activity

EC number	EC number description
1.1.1.35	Oxidoreductases; Acting on the CH-OH group of donors; With NAD+ or NADP+ as acceptor; 3-hydroxyacyl-CoA dehydrogenase
4.2.1.17	Lyases; Carbon-oxygen lyases; Hydro-lyases; enoyl-CoA hydratase
5.3.3.8	Isomerases; Intramolecular oxidoreductases; Transposing C=C bonds; Δ3-Δ2-enoyl-CoA isomerase

Publications

GO ontology	GO term	GO description
Biological Process	GO:0006635	fatty acid beta-oxidation
Biological Process	GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase
Molecular Function	GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity
Molecular Function	GO:0070403	NAD+ binding
Molecular Function	GO:0004165	delta(3)-delta(2)-enoyl-CoA isomerase activity
Molecular Function	GO:0004300	enoyl-CoA hydratase activity
Molecular Function	GO:0019899	enzyme binding
Molecular Function	GO:0016863	intramolecular oxidoreductase activity, transposing C=C bonds
Molecular Function	GO:0016509	long-chain-3-hydroxyacyl-CoA dehydrogenase activity
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0005782	peroxisomal matrix
Cellular Component	GO:0005777	peroxisome

InterPro	InterPro name
IPR001753	Enoyl-CoA hydratase/isomerase
IPR006108	3-hydroxyacyl-CoA dehydrogenase, C-terminal
IPR006176	3-hydroxyacyl-CoA dehydrogenase, NAD binding
IPR006180	3-hydroxyacyl-CoA dehydrogenase, conserved site
IPR008927	6-phosphogluconate dehydrogenase-like, C-terminal domain superfamily
IPR018376	Enoyl-CoA hydratase/isomerase, conserved site
IPR029045	ClpP/crotonase-like domain superfamily
IPR036291	NAD(P)-binding domain superfamily

Pfam	Pfam name
PF00378	Enoyl-CoA hydratase/isomerase
PF00725	3-hydroxyacyl-CoA dehydrogenase, C-terminal domain
PF02737	3-hydroxyacyl-CoA dehydrogenase, NAD binding domain

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-390247	Beta-oxidation of very long chain fatty acids	Leaf	R-HSA-1430728	Metabolism
R-HSA-9033241	Peroxisomal protein import	Internal node	R-HSA-9609507	Protein localization

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000083	Renal insufficiency
HP:0000117	Renal phosphate wasting
HP:0001324	Muscle weakness
HP:0001510	Growth delay
HP:0001824	Weight loss
HP:0001942	Metabolic acidosis
HP:0001943	Hypoglycemia
HP:0001944	Dehydration
HP:0002049	Proximal renal tubular acidosis
HP:0002148	Hypophosphatemia
HP:0002150	Hypercalciuria
HP:0002206	Pulmonary fibrosis
HP:0002653	Bone pain
HP:0002659	Increased susceptibility to fractures
HP:0002748	Rickets
HP:0002749	Osteomalacia
HP:0002900	Hypokalemia
HP:0002909	Generalized aminoaciduria
HP:0002979	Bowing of the legs
HP:0003076	Glycosuria
HP:0003081	Increased urinary potassium
HP:0003109	Hyperphosphaturia
HP:0003126	Low-molecular-weight proteinuria
HP:0003149	Hyperuricosuria
HP:0003234	Decreased plasma carnitine
HP:0003259	Elevated circulating creatinine concentration
HP:0003355	Aminoaciduria
HP:0003537	Hypouricemia
HP:0003593	Infantile onset
HP:0003646	Bicarbonaturia
HP:0003774	Stage 5 chronic kidney disease
HP:0004322	Short stature
HP:0004910	Bicarbonate-wasting renal tubular acidosis
HP:0004912	Hypophosphatemic rickets
HP:0004918	Hyperchloremic metabolic acidosis
HP:0012606	Renal sodium wasting
HP:0012622	Chronic kidney disease

Tissue	Cell type	Expression level	Reliability
kidney	proximal tubules (cell body)	Medium	Enhanced
liver	hepatocytes	High	Enhanced

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
d-bifunctional protein deficiency	MONDO:0009855	E71	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:261515	Orphanet:300
fanconi renotubular syndrome 3	MONDO:0014275	E72	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:615605