MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
2.4.1.224	Transferases; Glycosyltransferases; Hexosyltransferases; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-α-N-acetylglucosaminyltransferase
2.4.1.225	Transferases; Glycosyltransferases; Hexosyltransferases; N-acetylglucosaminyl-proteoglycan 4-β-glucuronosyltransferase

Structure

PDB	Resolution (Å)	PDB name
7SCH	3.1	Cryo-EM structure of the human Exostosin-1 and Exostosin-2 heterodimer
7SCJ	3.4	Cryo-EM structure of the human Exostosin-1 and Exostosin-2 heterodimer in complex with a 4-sugar oligosaccharide acceptor analog
7SCK	2.8	Cryo-EM structure of the human Exostosin-1 and Exostosin-2 heterodimer in complex with a 7-sugar oligosaccharide acceptor analog
7UQX	3.3	Cryo-EM structure of the human Exostosin-1 and Exostosin-2 heterodimer in complex with UDP-GlcNAc
7UQY	3.0	Cryo-EM structure of the human Exostosin-1 and Exostosin-2 heterodimer in complex with UDP-GlcA
7ZAY	2.8	Human heparan sulfate polymerase complex EXT1-EXT2

GO term

GO ontology	GO term	GO description
Biological Process	GO:0030509	BMP signaling pathway
Biological Process	GO:0071847	TNFSF11-mediated signaling pathway
Biological Process	GO:0019882	antigen processing and presentation
Biological Process	GO:0007411	axon guidance
Biological Process	GO:0071711	basement membrane organization
Biological Process	GO:0001974	blood vessel remodeling
Biological Process	GO:0045453	bone resorption
Biological Process	GO:0060070	canonical Wnt signaling pathway
Biological Process	GO:0060351	cartilage development involved in endochondral bone morphogenesis
Biological Process	GO:0033627	cell adhesion mediated by integrin
Biological Process	GO:0045165	cell fate commitment
Biological Process	GO:0098586	cellular response to virus
Biological Process	GO:0003415	chondrocyte hypertrophy
Biological Process	GO:0035988	chondrocyte proliferation
Biological Process	GO:0030204	chondroitin sulfate metabolic process
Biological Process	GO:0030199	collagen fibril organization
Biological Process	GO:1904888	cranial skeletal system development
Biological Process	GO:0070593	dendrite self-avoidance
Biological Process	GO:0036336	dendritic cell migration
Biological Process	GO:0060560	developmental growth involved in morphogenesis
Biological Process	GO:0072498	embryonic skeletal joint development
Biological Process	GO:0003416	endochondral bone growth
Biological Process	GO:0001958	endochondral ossification
Biological Process	GO:0007492	endoderm development
Biological Process	GO:0060441	epithelial tube branching involved in lung morphogenesis
Biological Process	GO:0042596	fear response
Biological Process	GO:0008543	fibroblast growth factor receptor signaling pathway
Biological Process	GO:0042044	fluid transport
Biological Process	GO:0007369	gastrulation
Biological Process	GO:0010467	gene expression
Biological Process	GO:0002067	glandular epithelial cell differentiation
Biological Process	GO:0032836	glomerular basement membrane development
Biological Process	GO:0006024	glycosaminoglycan biosynthetic process
Biological Process	GO:0031069	hair follicle morphogenesis
Biological Process	GO:0060047	heart contraction
Biological Process	GO:0003128	heart field specification
Biological Process	GO:0060218	hematopoietic stem cell differentiation
Biological Process	GO:0061484	hematopoietic stem cell homeostasis
Biological Process	GO:0097241	hematopoietic stem cell migration to bone marrow
Biological Process	GO:0015012	heparan sulfate proteoglycan biosynthetic process
Biological Process	GO:0015014	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
Biological Process	GO:0030210	heparin biosynthetic process
Biological Process	GO:0002524	hypersensitivity
Biological Process	GO:0050901	leukocyte tethering or rolling
Biological Process	GO:0036022	limb joint morphogenesis
Biological Process	GO:0036339	lymphocyte adhesion to endothelial cell of high endothelial venule
Biological Process	GO:0097021	lymphocyte migration into lymphoid organs
Biological Process	GO:1901706	mesenchymal cell differentiation involved in bone development
Biological Process	GO:0007498	mesoderm development
Biological Process	GO:0061744	motor behavior
Biological Process	GO:0035264	multicellular organism growth
Biological Process	GO:0050891	multicellular organismal-level water homeostasis
Biological Process	GO:0014033	neural crest cell differentiation
Biological Process	GO:0021772	olfactory bulb development
Biological Process	GO:0021554	optic nerve development
Biological Process	GO:0001503	ossification
Biological Process	GO:0043931	ossification involved in bone maturation
Biological Process	GO:0061974	perichondral bone morphogenesis
Biological Process	GO:0072112	podocyte differentiation
Biological Process	GO:0000271	polysaccharide biosynthetic process
Biological Process	GO:0030163	protein catabolic process
Biological Process	GO:0006486	protein glycosylation
Biological Process	GO:0065003	protein-containing complex assembly
Biological Process	GO:0008217	regulation of blood pressure
Biological Process	GO:0071503	response to heparin
Biological Process	GO:1990823	response to leukemia inhibitory factor
Biological Process	GO:0009642	response to light intensity
Biological Process	GO:0048733	sebaceous gland development
Biological Process	GO:0007165	signal transduction
Biological Process	GO:0001501	skeletal system development
Biological Process	GO:0060506	smoothened signaling pathway involved in lung development
Biological Process	GO:0035176	social behavior
Biological Process	GO:0055078	sodium ion homeostasis
Biological Process	GO:0017145	stem cell division
Biological Process	GO:0062094	stomach development
Biological Process	GO:0051923	sulfation
Biological Process	GO:0060792	sweat gland development
Biological Process	GO:0035249	synaptic transmission, glutamatergic
Biological Process	GO:0120193	tight junction organization
Biological Process	GO:0007033	vacuole organization
Biological Process	GO:0042311	vasodilation
Biological Process	GO:0071625	vocalization behavior
Biological Process	GO:0042060	wound healing
Molecular Function	GO:0050509	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity
Molecular Function	GO:0008375	acetylglucosaminyltransferase activity
Molecular Function	GO:0050508	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
Molecular Function	GO:0015020	glucuronosyltransferase activity
Molecular Function	GO:0016757	glycosyltransferase activity
Molecular Function	GO:0042328	heparan sulfate N-acetylglucosaminyltransferase activity
Molecular Function	GO:0046872	metal ion binding
Molecular Function	GO:0046982	protein heterodimerization activity
Molecular Function	GO:0042803	protein homodimerization activity
Cellular Component	GO:0005794	Golgi apparatus
Cellular Component	GO:0000139	Golgi membrane
Cellular Component	GO:0005783	endoplasmic reticulum
Cellular Component	GO:0005789	endoplasmic reticulum membrane
Cellular Component	GO:0016020	membrane
Cellular Component	GO:0045202	synapse

InterPro / Pfam

InterPro	InterPro name
IPR004263	Exostosin-like
IPR015338	Glycosyl transferase 64 domain
IPR029044	Nucleotide-diphospho-sugar transferases
IPR040911	Exostosin, GT47 domain

Pfam	Pfam name
PF03016	Exostosin family
PF09258	Glycosyl transferase family 64 domain

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-2022928	HS-GAG biosynthesis	Leaf	R-HSA-1430728	Metabolism
R-HSA-3656237	Defective EXT2 causes exostoses 2	Leaf	R-HSA-1643685	Disease
R-HSA-3656253	Defective EXT1 causes exostoses 1, TRPS2 and CHDS	Leaf	R-HSA-1643685	Disease

Subcellular location

Location	ECO term	Pubmed
Endoplasmic reticulum membrane	ECO:0000269	PubMed:10679296
Golgi apparatus membrane	ECO:0000269	PubMed:10679296
Golgi apparatus, cis-Golgi network membrane	ECO:0000269	PubMed:35137078

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000016	Urinary retention
HP:0000076	Vesicoureteral reflux
HP:0000164	Abnormality of the dentition
HP:0000174	Abnormal palate morphology
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000343	Long philtrum
HP:0000368	Low-set, posteriorly rotated ears
HP:0000405	Conductive hearing impairment
HP:0000411	Protruding ear
HP:0000414	Bulbous nose
HP:0000431	Wide nasal bridge
HP:0000574	Thick eyebrow
HP:0000896	Rib exostoses
HP:0000918	Scapular exostoses
HP:0001156	Brachydactyly
HP:0001191	Abnormal carpal morphology
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001369	Arthritis
HP:0001373	Joint dislocation
HP:0001376	Limitation of joint mobility
HP:0001385	Hip dysplasia
HP:0001428	Somatic mutation
HP:0001510	Growth delay
HP:0001582	Redundant skin
HP:0001850	Abnormality of the tarsal bones
HP:0001883	Talipes
HP:0002002	Deep philtrum
HP:0002015	Dysphagia
HP:0002107	Pneumothorax
HP:0002119	Ventriculomegaly
HP:0002144	Tethered cord
HP:0002176	Spinal cord compression
HP:0002209	Sparse scalp hair
HP:0002318	Cervical myelopathy
HP:0002653	Bone pain
HP:0002673	Coxa valga
HP:0002750	Delayed skeletal maturation
HP:0002762	Multiple exostoses
HP:0002763	Abnormal cartilage morphology
HP:0002812	Coxa vara
HP:0002815	Abnormality of the knee
HP:0002823	Abnormality of femur morphology
HP:0002857	Genu valgum
HP:0002991	Abnormality of fibula morphology
HP:0002992	Abnormality of tibia morphology
HP:0003016	Metaphyseal widening
HP:0003026	Short long bone
HP:0003068	Madelung-like forearm deformities
HP:0003105	Protuberances at ends of long bones
HP:0003276	Pelvic bone exostoses
HP:0003326	Myalgia
HP:0003330	Abnormal bone structure
HP:0003396	Syringomyelia
HP:0003406	Peripheral nerve compression
HP:0003474	Somatic sensory dysfunction
HP:0003621	Juvenile onset
HP:0003959	Deformed forearm bones
HP:0003977	Deformed radius
HP:0004302	Functional motor deficit
HP:0004322	Short stature
HP:0004684	Talipes valgus
HP:0005039	Multiple long-bone exostoses
HP:0005214	Intestinal obstruction
HP:0005692	Joint hyperflexibility
HP:0005743	Avascular necrosis of the capital femoral epiphysis
HP:0005922	Abnormal hand morphology
HP:0006385	Short lower limbs
HP:0006487	Bowing of the long bones
HP:0006765	Chondrosarcoma
HP:0007598	Bilateral single transverse palmar creases
HP:0008443	Neuropathic spinal arthropathy
HP:0008800	Limited hip movement
HP:0009118	Aplasia/Hypoplasia of the mandible
HP:0009821	Forearm undergrowth
HP:0009826	Limb undergrowth
HP:0009928	Thick nasal alae
HP:0010049	Short metacarpal
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
HP:0010501	Limitation of knee mobility
HP:0011069	Supernumerary tooth
HP:0011463	Childhood onset
HP:0012151	Hemothorax
HP:0012531	Pain
HP:0020110	Bone fracture
HP:0025232	Bursitis
HP:0030431	Osteochondroma
HP:0030680	Abnormality of cardiovascular system morphology
HP:0030883	Femoroacetabular impingement
HP:0031625	Pseudoaneurysm
HP:0032510	Tendon pain
HP:0040069	Abnormal lower limb bone morphology
HP:0040071	Abnormal morphology of ulna
HP:0040163	Abnormal pelvis bone morphology
HP:0100555	Asymmetric growth
HP:0100559	Lower limb asymmetry
HP:0100749	Chest pain
HP:0100777	Exostoses

Tissue and cell type

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
exostoses, multiple, type 1	MONDO:0007585	Q78	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:133700
trichorhinophalangeal syndrome type ii	MONDO:0007874	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:150230	Orphanet:502
chondrosarcoma	MONDO:0008977	C49	chapter2, Neoplasms	OMIM:215300	Orphanet:55880

Summary of Q16394

Gene: EXT1
Protein: Exostosin-1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of Q16394

Gene: EXT1 Protein: Exostosin-1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: EXT1
Protein: Exostosin-1