MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
2.7.1.60	Transferases; Transferring phosphorus-containing groups; Phosphotransferases with an alcohol group as acceptor; N-acylmannosamine kinase
3.2.1.183	Hydrolases; Glycosylases; Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds; UDP-N-acetylglucosamine 2-epimerase (hydrolysing)

Structure

PDB	Resolution (Å)	PDB name
2YHW	1.64	High-resolution crystal structures of N-Acetylmannosamine kinase: Insights about substrate specificity, activity and inhibitor modelling.
2YHY	1.82	Structure of N-Acetylmannosamine kinase in complex with N- acetylmannosamine and ADP
2YI1	2.15	Crystal structure of N-Acetylmannosamine kinase in complex with N- acetyl mannosamine 6-phosphate and ADP.
3EO3	2.84	Crystal structure of the N-acetylmannosamine kinase domain of human GNE protein
4ZHT	2.69	Crystal structure of UDP-GlcNAc 2-epimerase

GO term

GO ontology	GO term	GO description
Biological Process	GO:0006045	N-acetylglucosamine biosynthetic process
Biological Process	GO:0006054	N-acetylneuraminate metabolic process
Biological Process	GO:0006047	UDP-N-acetylglucosamine metabolic process
Biological Process	GO:0007155	cell adhesion
Molecular Function	GO:0005524	ATP binding
Molecular Function	GO:0009384	N-acylmannosamine kinase activity
Molecular Function	GO:0008761	UDP-N-acetylglucosamine 2-epimerase activity
Molecular Function	GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds
Molecular Function	GO:0046872	metal ion binding
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol

InterPro	InterPro name
IPR000600	ROK family
IPR003331	UDP-N-acetylglucosamine 2-epimerase domain
IPR020004	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
IPR043129	ATPase, nucleotide binding domain

Pfam	Pfam name
PF00480	ROK family
PF02350	UDP-N-acetylglucosamine 2-epimerase

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-4085001	Sialic acid metabolism	Leaf	R-HSA-392499	Metabolism of proteins
R-HSA-4085011	Defective GNE causes sialuria, NK and IBM2	Leaf	R-HSA-1643685	Disease

Location	ECO term	Pubmed
Cytoplasm	ECO:0000250

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000158	Macroglossia
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000256	Macrocephaly
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000343	Long philtrum
HP:0000369	Low-set ears
HP:0000431	Wide nasal bridge
HP:0000629	Periorbital fullness
HP:0000664	Synophrys
HP:0000821	Hypothyroidism
HP:0000943	Dysostosis multiplex
HP:0001007	Hirsutism
HP:0001081	Cholelithiasis
HP:0001250	Seizure
HP:0001256	Intellectual disability, mild
HP:0001263	Global developmental delay
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001324	Muscle weakness
HP:0001382	Joint hypermobility
HP:0001433	Hepatosplenomegaly
HP:0001436	Abnormality of the foot musculature
HP:0001507	Growth abnormality
HP:0001538	Protuberant abdomen
HP:0001609	Hoarse voice
HP:0001638	Cardiomyopathy
HP:0001744	Splenomegaly
HP:0001847	Long hallux
HP:0001939	Abnormality of metabolism/homeostasis
HP:0001999	Abnormal facial shape
HP:0002007	Frontal bossing
HP:0002162	Low posterior hairline
HP:0002230	Generalized hirsutism
HP:0002240	Hepatomegaly
HP:0002354	Memory impairment
HP:0002460	Distal muscle weakness
HP:0002474	Expressive language delay
HP:0002487	Hyperkinetic movements
HP:0002557	Hypoplastic nipples
HP:0002574	Episodic abdominal pain
HP:0002650	Scoliosis
HP:0002705	High, narrow palate
HP:0002781	Upper airway obstruction
HP:0002910	Elevated hepatic transaminase
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003376	Steppage gait
HP:0003438	Absent Achilles reflex
HP:0003458	EMG: myopathic abnormalities
HP:0003547	Shoulder girdle muscle weakness
HP:0003557	Increased variability in muscle fiber diameter
HP:0003581	Adult onset
HP:0003593	Infantile onset
HP:0003645	Prolonged partial thromboplastin time
HP:0003691	Scapular winging
HP:0003693	Distal amyotrophy
HP:0003724	Shoulder girdle muscle atrophy
HP:0003731	Quadriceps muscle weakness
HP:0003791	Deposits immunoreactive to beta-amyloid protein
HP:0003805	Rimmed vacuoles
HP:0004691	2-3 toe syndactyly
HP:0005257	Thoracic hypoplasia
HP:0006251	Limited wrist extension
HP:0006467	Limited shoulder movement
HP:0007010	Poor fine motor coordination
HP:0007018	Attention deficit hyperactivity disorder
HP:0007210	Lower limb amyotrophy
HP:0007340	Lower limb muscle weakness
HP:0008151	Prolonged prothrombin time
HP:0008180	Mildly elevated creatine kinase
HP:0008443	Neuropathic spinal arthropathy
HP:0008963	Tibialis muscle weakness
HP:0009027	Foot dorsiflexor weakness
HP:0009053	Distal lower limb muscle weakness
HP:0009077	Weakness of long finger extensor muscles
HP:0010535	Sleep apnea
HP:0010628	Facial palsy
HP:0011220	Prominent forehead
HP:0012103	Abnormality of the mitochondrion
HP:0012515	Hip flexor weakness
HP:0012548	Fatty replacement of skeletal muscle
HP:0030007	EMG: positive sharp waves
HP:0040047	Abnormal right hemidiaphragm morphology
HP:0100284	EMG: myotonic discharges
HP:0100299	Muscle fiber inclusion bodies
HP:0410156	Increased level of N-acetylneuraminic acid in urine

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adrenal gland	glandular cells	Medium	Approved
appendix	glandular cells	Medium	Approved
appendix	lymphoid tissue	Low	Approved
bone marrow	hematopoietic cells	Medium	Approved
breast	glandular cells	Low	Approved
breast	myoepithelial cells	Low	Approved
bronchus	ciliated cells (tip of cilia)	Low	Approved
cerebral cortex	neuropil	Medium	Approved
colon	endothelial cells	Medium	Approved
colon	glandular cells	High	Approved
colon	peripheral nerve/ganglion	Medium	Approved
duodenum	glandular cells	High	Approved
endometrium 1	glandular cells	Low	Approved
endometrium 2	glandular cells	Low	Approved
epididymis	glandular cells	Low	Approved
esophagus	squamous epithelial cells	Low	Approved
fallopian tube	ciliated cells (cilia axoneme)	High	Approved
fallopian tube	ciliated cells (tip of cilia)	High	Approved
gallbladder	glandular cells	High	Approved
heart muscle	cardiomyocytes	Medium	Approved
hippocampus	neuronal cells	Low	Approved
kidney	cells in glomeruli	Low	Approved
kidney	cells in tubules	Medium	Approved
liver	hepatocytes	Medium	Approved
lung	macrophages	High	Approved
lymph node	germinal center cells	Low	Approved
lymph node	non-germinal center cells	Medium	Approved
nasopharynx	ciliated cells (cell body)	Medium	Approved
nasopharynx	ciliated cells (cilia axoneme)	High	Approved
nasopharynx	ciliated cells (tip of cilia)	High	Approved
oral mucosa	squamous epithelial cells	Low	Approved
pancreas	exocrine glandular cells	Medium	Approved
pancreas	pancreatic endocrine cells	Medium	Approved
parathyroid gland	glandular cells	Medium	Approved
placenta	decidual cells	Medium	Approved
placenta	trophoblastic cells	Medium	Approved
prostate	glandular cells	High	Approved
rectum	glandular cells	High	Approved
salivary gland	glandular cells	Low	Approved
seminal vesicle	glandular cells	Low	Approved
skeletal muscle	myocytes	Medium	Approved
skin 1	melanocytes	Medium	Approved
skin 2	epidermal cells	Low	Approved
small intestine	glandular cells	High	Approved
smooth muscle	smooth muscle cells	Medium	Approved
spleen	cells in red pulp	Medium	Approved
stomach 1	glandular cells	Medium	Approved
stomach 2	glandular cells	Medium	Approved
testis	Leydig cells	Low	Approved
testis	cells in seminiferous ducts	Medium	Approved
thyroid gland	glandular cells	Low	Approved
tonsil	germinal center cells	Low	Approved
tonsil	non-germinal center cells	Low	Approved
tonsil	squamous epithelial cells	Medium	Approved
urinary bladder	urothelial cells	Medium	Approved

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
sialuria	MONDO:0010028	E77	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:269921	Orphanet:3166
gne myopathy	MONDO:0011603	G71	chapter6, Diseases of the nervous system	OMIM:605820	Orphanet:602
platelet-type bleeding disorder 19	MONDO:0014518	D69	chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism	OMIM:616176	Orphanet:438207

Summary of Q9Y223

Gene: GNE, GLCNE
Protein: Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of Q9Y223

Gene: GNE, GLCNE Protein: Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: GNE, GLCNE
Protein: Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase