EXT1 - exostosin glycosyltransferase 1 Gene

Homo sapiens

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

Gene ID: 2131 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04607	EXT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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