MultifacetedProtDB - Bologna Biocomputing Group

Catalytic activity

EC number	EC number description
2.4.1.376	Transferases; Glycosyltransferases; Hexosyltransferases; EGF-domain serine glucosyltransferase
2.4.2.63	Transferases; Glycosyltransferases; Pentosyltransferases; EGF-domain serine xylosyltransferase

Publications

PDB	Resolution (Å)	PDB name
5L0R	1.5	human POGLUT1 in complex with Notch1 EGF12 and UDP
5L0S	1.45	human POGLUT1 in complex with Factor VII EGF1 and UDP
5L0T	1.43	human POGLUT1 in complex with EGF(+) and UDP
5L0U	1.8	human POGLUT1 in complex with EGF(+) and UDP-phosphono-glucose
5L0V	1.305	human POGLUT1 in complex with 2F-glucose modified EGF(+) and UDP
5UB5	2.089	human POGLUT1 in complex with human Notch1 EGF12 S458T mutant and UDP

GO ontology	GO term	GO description
Biological Process	GO:0048318	axial mesoderm development
Biological Process	GO:0072359	circulatory system development
Biological Process	GO:0007369	gastrulation
Biological Process	GO:0060537	muscle tissue development
Biological Process	GO:0048339	paraxial mesoderm development
Biological Process	GO:0045747	positive regulation of Notch signaling pathway
Biological Process	GO:0006493	protein O-linked glycosylation
Biological Process	GO:0018242	protein O-linked glycosylation via serine
Biological Process	GO:0010470	regulation of gastrulation
Biological Process	GO:0001756	somitogenesis
Molecular Function	GO:0140561	EGF-domain serine glucosyltransferase activity
Molecular Function	GO:0140562	EGF-domain serine xylosyltransferase activity
Molecular Function	GO:0035251	UDP-glucosyltransferase activity
Molecular Function	GO:0035252	UDP-xylosyltransferase activity
Molecular Function	GO:0046527	glucosyltransferase activity
Cellular Component	GO:0012505	endomembrane system
Cellular Component	GO:0005783	endoplasmic reticulum
Cellular Component	GO:0005788	endoplasmic reticulum lumen

InterPro	InterPro name
IPR006598	Glycosyl transferase CAP10 domain

Pfam	Pfam name
PF05686	Glycosyl transferase family 90

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-1912399	Pre-NOTCH Processing in the Endoplasmic Reticulum	Leaf	R-HSA-162582	Signal Transduction

Location	ECO term	Pubmed
Endoplasmic reticulum lumen	ECO:0000269	PubMed:16524674
Endoplasmic reticulum lumen	ECO:0000269	PubMed:24387993
Endoplasmic reticulum lumen	ECO:0000269	PubMed:27807076

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000464	Abnormality of the neck
HP:0000962	Hyperkeratosis
HP:0000989	Pruritus
HP:0001034	Hypermelanotic macule
HP:0001155	Abnormality of the hand
HP:0001231	Abnormal fingernail morphology
HP:0001369	Arthritis
HP:0002046	Heat intolerance
HP:0002091	Restrictive ventilatory defect
HP:0002093	Respiratory insufficiency
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003581	Adult onset
HP:0003677	Slowly progressive
HP:0003691	Scapular winging
HP:0006536	Airway obstruction
HP:0006785	Limb-girdle muscular dystrophy
HP:0007456	Progressive reticulate hyperpigmentation
HP:0008994	Proximal muscle weakness in lower limbs
HP:0009123	Mixed hypo- and hyperpigmentation of the skin
HP:0010610	Palmar pits
HP:0011354	Generalized abnormality of skin
HP:0011462	Young adult onset
HP:0012548	Fatty replacement of skeletal muscle
HP:0012855	Scrotal hyperpigmentation
HP:0020073	Hypopigmented macule
HP:0025092	Epidermal acanthosis
HP:0025114	Hypergranulosis
HP:0025473	Hyperpigmented papule
HP:0030052	Inguinal freckling
HP:0030350	Erythematous papule
HP:0030442	Anal margin squamous cell carcinoma
HP:0031293	Digital pitting scar
HP:0031447	Penile freckling
HP:0031525	Keratoacanthoma
HP:0032341	Reduced forced vital capacity
HP:0040154	Acne inversa
HP:0045059	Hyperkeratotic papule
HP:0200034	Papule
HP:0200037	Skin vesicle
HP:0200040	Epidermoid cyst

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
colon	glandular cells	Medium	Approved
duodenum	glandular cells	Medium	Approved
endometrium 1	glandular cells	Medium	Approved
epididymis	glandular cells	Low	Approved
fallopian tube	glandular cells	Medium	Approved
gallbladder	glandular cells	Medium	Approved
heart muscle	cardiomyocytes	Medium	Approved
kidney	cells in tubules	Medium	Approved
lung	macrophages	Low	Approved
lymph node	non-germinal center cells	Medium	Approved
nasopharynx	respiratory epithelial cells	Low	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	trophoblastic cells	Medium	Approved
prostate	glandular cells	Medium	Approved
rectum	glandular cells	Medium	Approved
salivary gland	glandular cells	Medium	Approved
seminal vesicle	glandular cells	Low	Approved
skeletal muscle	myocytes	Low	Approved
skin 2	epidermal cells	Low	Approved
small intestine	glandular cells	Medium	Approved
spleen	cells in white pulp	Low	Approved
stomach 1	glandular cells	Medium	Approved
stomach 2	glandular cells	Medium	Approved
testis	Leydig cells	Low	Approved
testis	spermatogonia cells	Medium	Approved
thyroid gland	glandular cells	Medium	Approved
tonsil	non-germinal center cells	Medium	Approved
urinary bladder	urothelial cells	Low	Approved

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
dowling-degos disease 4	MONDO:0014307	L81	chapter12, Diseases of the skin and subcutaneous tissue	OMIM:615696
autosomal recessive limb-girdle muscular dystrophy type 2z	MONDO:0014977	E77	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:617232	Orphanet:480682
autosomal recessive limb-girdle muscular dystrophy type 2z	MONDO:0014977	G71	chapter6, Diseases of the nervous system	OMIM:617232	Orphanet:480682