MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
2.7.1.30	Transferases; Transferring phosphorus-containing groups; Phosphotransferases with an alcohol group as acceptor; glycerol kinase

GO ontology	GO term	GO description
Biological Process	GO:0019563	glycerol catabolic process
Biological Process	GO:0006071	glycerol metabolic process
Biological Process	GO:0046167	glycerol-3-phosphate biosynthetic process
Biological Process	GO:0016310	phosphorylation
Biological Process	GO:0019432	triglyceride biosynthetic process
Biological Process	GO:0006641	triglyceride metabolic process
Molecular Function	GO:0005524	ATP binding
Molecular Function	GO:0004370	glycerol kinase activity
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0070062	extracellular exosome
Cellular Component	GO:0005741	mitochondrial outer membrane
Cellular Component	GO:0005739	mitochondrion

InterPro	InterPro name
IPR000577	Carbohydrate kinase, FGGY
IPR005999	Glycerol kinase
IPR018483	Carbohydrate kinase, FGGY, conserved site
IPR018484	Carbohydrate kinase, FGGY, N-terminal
IPR018485	Carbohydrate kinase, FGGY, C-terminal
IPR042018	Glycerol kinase, metazoa
IPR043129	ATPase, nucleotide binding domain

Pfam	Pfam name
PF00370	FGGY family of carbohydrate kinases, N-terminal domain
PF02782	FGGY family of carbohydrate kinases, C-terminal domain

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-75109	Triglyceride biosynthesis	Leaf	R-HSA-1430728	Metabolism

HPO ID	HPO name
HP:0000028	Cryptorchidism
HP:0000316	Hypertelorism
HP:0000369	Low-set ears
HP:0000486	Strabismus
HP:0000846	Adrenal insufficiency
HP:0000939	Osteoporosis
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001254	Lethargy
HP:0001259	Coma
HP:0001263	Global developmental delay
HP:0001419	X-linked recessive inheritance
HP:0001510	Growth delay
HP:0001518	Small for gestational age
HP:0001942	Metabolic acidosis
HP:0001943	Hypoglycemia
HP:0001993	Ketoacidosis
HP:0002007	Frontal bossing
HP:0002155	Hypertriglyceridemia
HP:0002572	Episodic vomiting
HP:0002714	Downturned corners of mouth
HP:0002756	Pathologic fracture
HP:0003198	Myopathy
HP:0003560	Muscular dystrophy
HP:0003581	Adult onset
HP:0003621	Juvenile onset
HP:0004322	Short stature
HP:0006280	Chronic pancreatitis
HP:0007185	Loss of consciousness
HP:0008182	Adrenocortical hypoplasia
HP:0011463	Childhood onset
HP:0040301	Increased urinary glycerol
HP:0040302	Hyperglycerolemia

Tissue	Cell type	Expression level	Reliability
adrenal gland	glandular cells	Medium	Supported
bone marrow	hematopoietic cells	Low	Supported
bronchus	respiratory epithelial cells	Low	Supported
colon	mucosal lymphoid cells	Medium	Supported
duodenum	endocrine cells	High	Supported
duodenum	enterocytes	High	Supported
duodenum	goblet cells	High	Supported
endometrium 1	glandular cells	Medium	Supported
fallopian tube	glandular cells	Medium	Supported
heart muscle	cardiomyocytes	Low	Supported
kidney	cells in tubules	Medium	Supported
liver	cholangiocytes	Medium	Supported
liver	hepatocytes	High	Supported
lung	alveolar cells	Low	Supported
lymph node	non-germinal center cells	Medium	Supported
nasopharynx	respiratory epithelial cells	Low	Supported
rectum	mucosal lymphoid cells	Medium	Supported
small intestine	enterocytes	Low	Supported
spleen	cells in red pulp	Medium	Supported
spleen	cells in white pulp	Low	Supported
thyroid gland	glandular cells	Medium	Supported
urinary bladder	urothelial cells	Low	Supported

Location	ECO term	Pubmed
Cytoplasm
Mitochondrion outer membrane

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
glycerol kinase deficiency, juvenile form	MONDO:0017295	E74	chapter4, Endocrine, nutritional and metabolic diseases		Orphanet:284411
glycerol kinase deficiency, adult form	MONDO:0017296	E74	chapter4, Endocrine, nutritional and metabolic diseases		Orphanet:284414