EXT1 - exostosin glycosyltransferase 1 Gene

Also Known as EXT; LGS; TTV; LGCR; TRPS2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2131

About EXT1

Cytogenetic location: 8q24.11 Genomic coordinates (GRCh38): 8:117,794,490-118,111,826 (from NCBI)

This gene has 5 transcripts (splice variants), 268 orthologues, 4 paralogues and is associated with 82 phenotypes. Ubiquitous expression in duodenum (RPKM 18.7), small intestine (RPKM 16.2) and 25 other tissues.

Summary

This gene encodes an endoplasmic reticulum-resident type II transmembrane Glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]

EXT1 Products (1)

mRNA	Protein	Name
NM_000127.3	NP_000118.2	exostosin-1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IDA IDA: Inferred from direct assay	12907669	GOA
contributes to glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	36593275	GOA
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	12907669	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	33961781	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	12907669	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	12907669	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glycosaminoglycan biosynthetic process	IDA IDA: Inferred from direct assay	12907669	GOA
involved in heparan sulfate proteoglycan biosynthetic process	IDA IDA: Inferred from direct assay	9620772	GOA
involved in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IDA IDA: Inferred from direct assay	36593275	GOA
involved in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IMP IMP: Inferred from mutant phenotype	17761672	GOA
involved in ossification	IMP IMP: Inferred from mutant phenotype	7550340	GOA
involved in polysaccharide biosynthetic process	IDA IDA: Inferred from direct assay	12907669	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in Golgi apparatus	IDA IDA: Inferred from direct assay	10679296	GOA
located in Golgi apparatus	IDA IDA: Inferred from direct assay	10639137	GOA
part of catalytic complex	IDA IDA: Inferred from direct assay	10679296	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	9620772	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EXT1 Protein Structure

Exostosin

Glyco_transf_64

0
200
400
600
746 a.a.

Protein Preferred Names	Protein Names
exostosin-1	Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase

EXT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EXT1	Q16394	EXT2	Homo sapiens	Q93063	Affinity Chrom	36402845
Intra	EXT1	Q16394	EXT2	Homo sapiens	Q93063	3D-EM	36593275
Intra	EXT1	Q16394	EXT2	Homo sapiens	Q93063	DSC	36402845
Intra	EXT1	Q16394	EXT2	Homo sapiens	Q93063	FRET	35137078
Intra	EXT1	Q16394	EXT2	Homo sapiens	Q93063	3D-EM	36402845
Intra	EXT1	Q16394	EXT2	Homo sapiens	Q93063	Light Scattering	36593275
Intra	EXT1	Q16394	EXT2	Homo sapiens	Q93063	EM	36402845
Intra	EXT1	Q16394	EXT2	Homo sapiens	Q93063	Light Scattering	36402845

Cross: Cross-species interaction Intra: Intraspecies interaction

EXT1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89617	EXT1 Antibody (YA8961)	WB, ICC/IF, IF-Tissue, IP, ELISA	human, mouse, rat

Related Diseases

Diseases	Alias
Exostoses, Multiple, Type I	Exostoses, Multiple, Type 1 EXT1 Multiple Cartilaginous Exostoses Diaphyseal Aclasis Multiple Osteochondromas Osteochondromatosis Hereditary Multiple Exostoses Bessel-Hagen Disease Exostoses, Multiple Ext Hereditary Multiple Osteochondromas Hmo Hereditary Multiple Exostosis Multiple Exostoses Hereditary Multiple Exostoses 1 Osteochondromas, Multiple Enchondromatosis Glucuronyltransferase/N-Acetylglucosaminyltransferase Deficiency Ext1/Ext2-Cdg Multiple Congenital Exostoses
Chondrosarcoma	Cartilaginous Cancer Chondrosarcoma Of Bone Primary Chondrosarcoma Of The Bone CHDSA
Trichorhinophalangeal Syndrome, Type Ii	Langer-Giedion Syndrome Lgs Trichorhinophalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome Type 2 TRPS2 Monosomy 8q24.1 Chromosome 8q24.1 Deletion Syndrome Deletion 8q24.1 Giedion-Langer Syndrome Trichorhinophalangeal Dysplasia Type Ii Langer Giedion Syndrome Trps 2 Tricho-Rhino-Phalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome With Exostosis Trps Ii Tricho-Rhino-Phalangeal Syndrome 2 8q24.1 Microdeletion Syndrome 8q24.1 Deletion Syndrome
Hereditary Multiple Exostoses	Multiple Congenital Exostosis Hereditary Multiple Exostoses 1 Hereditary Multiple Exostoses 2 Hereditary Multiple Exostoses 3 Multiple Exostosis Syndromes Multiple Ostechondromas Osteochondromatosis Syndrome Exostoses Multiple Hereditary Exostoses, Multiple Hereditary
Hereditary Multiple Osteochondromas	Hereditary Multiple Exostoses Diaphyseal Aclasis Multiple Cartilaginous Exostoses Multiple Hereditary Exostoses Bessel-Hagen Disease Exostoses, Multiple Hereditary Familial Exostoses Multiple Congenital Exostosis Multiple Osteochondromas Multiple Osteochondromatosis Osteochondromatosis
Exostosis	Osteophyte Exostoses Orbital Exostosis Exostosis Of Orbit Bone Spur Bony Outgrowth Swimmer'S Exostosis Osteophytes External Exotoses Cartilaginous Exostosis
Osteochondroma	Cartilaginous Exostosis
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Trichorhinophalangeal Syndrome	Tricho-Rhino-Phalangeal Syndrome Trps
Osteopoikilosis	Osteopathia Condensans Disseminata Spotted Bones Dermatofibrosis Lenticularis Disseminata
Metachondromatosis	METCDS MC
Trichorhinophalangeal Syndrome, Type I	Trichorhinophalangeal Dysplasia Type I TRPS1 Trichorhinophalangeal Syndrome Type I Trps I Trichorhinophalangeal Syndrome Type 1 Type I Trichorhinophalangeal Syndrome Giedion Syndrome Trp Syndrome Tricho-Rhino-Phalangeal Syndrome 1 Trichorhinophalangeal Syndrome, Type Iii
Enchondromatosis, Multiple, Ollier Type	Ollier Disease Enchondromatosis Dyschondroplasia Osteochondromatosis Multiple Cartilaginous Enchondroses Multiple Enchondromatosis Enchondromatosis With Haemangiomata Enchondromatosis, Multiple Kast'S Syndrome Ollier'S Syndrome Enchondromatosis Multiple ENCHOM Maffucci Disease Olliers Disease Hereditary Multiple Exostoses Chondromatosis
Ankylosing Spondylitis 3
Periosteal Chondrosarcoma	Juxtacortical Chondrosarcoma
Vulto-Van Silfhout-De Vries Syndrome	Vulto-Van Silfout-De Vries Syndrome VSVS Intellectual Developmental Disorder With Impaired Expressive Speech And Behavioral Abnormalities, With Or Without Seizures Iddisbas Mrd24 Mental Retardation, Autosomal Dominant 24 Autosomal Dominant Mental Retardation 24 Autosomal Dominant Non-Syndromic Intellectual Disability 24 Mental Retardation, Autosomal Dominant, Type 24
Trichorhinophalangeal Syndrome, Type Iii	Trichorhinophalangeal Syndrome Type Iii TRPS3 Sugio-Kajii Syndrome Trichorhinophalangeal Syndrome Type 3 Trps 3 Tricho-Rhino-Phalangeal Syndrome 3
Multiple Enchondromatosis, Maffucci Type	Maffucci Syndrome Chondrodysplasia With Hemangioma Chondroplasia Angiomatosis Enchondromatosis With Hemangiomata Hemangiomatosis Chondrodystrophica Kast Syndrome Multiple Angiomas And Endochondromas Dyschondrodysplasia With Hemangiomas Enchondromatosis Type Ii Enchondromatosis With Multiple Cavernous Hemangiomas Dyschondroplasia And Cavernous Hemangioma Hemangiomata With Dyschondroplasia
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Spondyloepiphyseal Dysplasia Chst3-Related Skeletal Dysplasia Humerospinal Dysostosis Spondyloepiphyseal Dysplasia, Omani Type Chondrodysplasia With Multiple Dislocations SEDCJD Hsd Cdmd Humero-Spinal Dysostosis Kozlowski Celermajer Tink Syndrome Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type Larsen Syndrome, Recessive Type Humero-Spinal Dysostosis With Congenital Heart Disease Omani Type Sed Chst3 Deficiency Chst3-Related Dysplasia Recessive Larsen Syndrome Autosomal Recessive Larsen Syndrome Sed With Luxations, Chst3 Type Sed, Omani Type Sdcd, Chst3 Type Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type Sed Omani Type Spondyloepiphyseal Dysplasia Omani Type Larsen Syndrome, Autosomal Recessive Mucopolysaccharidosis Iv Spondyloepiphyseal Dysplasia, Congenita
Periosteal Osteogenic Sarcoma	Periosteal Osteosarcoma Parosteal Osteosarcoma
Juxtacortical Chondroma	Periosteal Chondroma
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Cornelia De Lange Syndrome 4 CDLS4 Cornelia De Lange Syndrome, Type 4
Hypertrichosis
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	CMTX3 Charcot-Marie-Tooth Disease X-Linked Recessive 3 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3 Cmt3x X-Linked Charcot-Marie-Tooth Disease Type 3 Charcot-Marie-Tooth Neuropathy X-Linked Recessive 3 Charcot-Marie-Tooth Disease, X-Linked Type 3, Recessive
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	CMTX2 Charcot-Marie-Tooth Disease X-Linked Recessive 2 X-Linked Charcot-Marie-Tooth Disease Type 2 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2 Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive
Bone Sarcoma
Larsen Syndrome	LRS Larsen Syndrome, Dominant Type Dominant Larsen Syndrome Autosomal Dominant Larsen Syndrome Larsens Syndrome
Brachydactyly
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04607	EXT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21339	Ext1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27858	Ext1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	EXT1	VGNC	VGNC:40531
Mus musculus	EXT1	MGD	MGI:894663
Macaca mulatta	EXT1	VGNC	VGNC:72448
Rattus norvegicus	EXT1	RGD	RGD:1587375
Bos taurus	EXT1	VGNC	VGNC:28665
Others	EXT1	NCBI