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Aliases for EXT1 Gene

Aliases for EXT1 Gene

  • Exostosin Glycosyltransferase 1 2 3 5
  • Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan/N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase 3 4
  • Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N- Acetylglucosaminyltransferase 2 3
  • N-Acetylglucosaminyl-Proteoglycan 4-Beta-Glucuronosyltransferase 2 3
  • Langer-Giedion Syndrome Chromosome Region 2 3
  • Putative Tumor Suppressor Protein EXT1 3 4
  • Multiple Exostoses Protein 1 3 4
  • Exostoses (Multiple) 1 2 3
  • Exostosin 1 2 3
  • EC 4
  • EC 4
  • TRPS2 3
  • LGCR 3
  • LGS 3
  • EXT 3
  • TTV 3

External Ids for EXT1 Gene

Previous HGNC Symbols for EXT1 Gene

  • LGCR
  • LGS

Previous GeneCards Identifiers for EXT1 Gene

  • GC08M118872
  • GC08M118480
  • GC08M118768
  • GC08M118880
  • GC08M114138

Summaries for EXT1 Gene

Entrez Gene Summary for EXT1 Gene

  • 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]

GeneCards Summary for EXT1 Gene

EXT1 (Exostosin Glycosyltransferase 1) is a Protein Coding gene. Diseases associated with EXT1 include Chondrosarcoma and Exostoses, Multiple, Type 1. Among its related pathways are heparan sulfate biosynthesis and Glycosaminoglycan metabolism. GO annotations related to this gene include protein homodimerization activity and transferase activity, transferring glycosyl groups. An important paralog of this gene is EXT2.

UniProtKB/Swiss-Prot for EXT1 Gene

  • Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Gene Wiki entry for EXT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXT1 Gene

Genomics for EXT1 Gene

Regulatory Elements for EXT1 Gene

Enhancers for EXT1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EXT1 on UCSC Golden Path with GeneCards custom track

Promoters for EXT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EXT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EXT1 Gene

117,794,490 bp from pter
118,111,853 bp from pter
317,364 bases
Minus strand

Genomic View for EXT1 Gene

Genes around EXT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXT1 Gene

Proteins for EXT1 Gene

  • Protein details for EXT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2R7V2
    • Q9BVI9

    Protein attributes for EXT1 Gene

    746 amino acids
    Molecular mass:
    86255 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Forms a homo/hetero-oligomeric complex with EXT2.

neXtProt entry for EXT1 Gene

Proteomics data for EXT1 Gene at MOPED

Post-translational modifications for EXT1 Gene

  • Glycosylation at Asn 89 and Asn 330
  • Modification sites at PhosphoSitePlus

Other Protein References for EXT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EXT1 Gene

Domains & Families for EXT1 Gene

Gene Families for EXT1 Gene

Protein Domains for EXT1 Gene

Suggested Antigen Peptide Sequences for EXT1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 47 family.
  • Belongs to the glycosyltransferase 47 family.
genes like me logo Genes that share domains with EXT1: view

Function for EXT1 Gene

Molecular function for EXT1 Gene

GENATLAS Biochemistry:
exostoses multiple gene 1,transmembrane glycoprotein,housekeeping gene ubiquitously expressed,localized to the rough endoplasmic reticulum (ER), accumulating in the Golgi network,forming a stable complex with EXT2 and catalyzing the synthesis of heparan sulfate,homolog to EXT2,80 kDa,mutated in EXT1 and having tumor suppressor function (see TSG8C),
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan = UDP + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-glucuronate + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan.
UniProtKB/Swiss-Prot Function:
Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Enzyme Numbers (IUBMB) for EXT1 Gene

Gene Ontology (GO) - Molecular Function for EXT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 acetylglucosaminyltransferase activity IDA 12907669
GO:0015020 glucuronosyltransferase activity IEA,IDA 12907669
GO:0042328 heparan sulfate N-acetylglucosaminyltransferase activity NAS 12907669
GO:0042803 protein homodimerization activity IDA 12907669
GO:0050509 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity IEA,NAS 12907669
genes like me logo Genes that share ontologies with EXT1: view
genes like me logo Genes that share phenotypes with EXT1: view

Human Phenotype Ontology for EXT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EXT1 Gene

MGI Knock Outs for EXT1:

Animal Model Products

  • Taconic Biosciences Mouse Models for EXT1

No data available for Transcription Factor Targets and HOMER Transcription for EXT1 Gene

Localization for EXT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXT1 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus.

Subcellular locations from

Jensen Localization Image for EXT1 Gene COMPARTMENTS Subcellular localization image for EXT1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
extracellular 2
lysosome 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for EXT1 Gene

Pathways & Interactions for EXT1 Gene

genes like me logo Genes that share pathways with EXT1: view

UniProtKB/Swiss-Prot Q16394-EXT1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for EXT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IMP 7550340
GO:0005975 carbohydrate metabolic process TAS --
GO:0006024 glycosaminoglycan biosynthetic process IEA,TAS --
GO:0006486 protein glycosylation IEA --
GO:0007411 axon guidance IEA --
genes like me logo Genes that share ontologies with EXT1: view

No data available for SIGNOR curated interactions for EXT1 Gene

Drugs & Compounds for EXT1 Gene

(3) Drugs for EXT1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(4) Additional Compounds for EXT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate glucuronic acid
  • a-D-Glucopyranuronic acid 1->5'-ester with uridine 5'-(trihydrogen pyrophosphate)
  • a-D-Glucopyranuronic acid ester with uridine 5'-pyrophosphate
  • alpha-D-Glucopyranuronic acid 1-P'-ester with uridine 5'-(trihydrogen diphosphate)
  • alpha-delta-Glucopyranuronic acid 1->5'-ester with uridine 5'-(trihydrogen pyrophosphate)
  • alpha-delta-Glucopyranuronic acid 1-P'-ester with uridine 5'-(trihydrogen diphosphate)
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-Dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
genes like me logo Genes that share compounds with EXT1: view

Transcripts for EXT1 Gene

mRNA/cDNA for EXT1 Gene

Unigene Clusters for EXT1 Gene

Exostosin glycosyltransferase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EXT1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP3: - - -

Relevant External Links for EXT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EXT1 Gene

mRNA expression in normal human tissues for EXT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EXT1 Gene

This gene is overexpressed in Artery - Aorta (x5.2).

Protein differential expression in normal tissues from HIPED for EXT1 Gene

This gene is overexpressed in Testis (37.3), Gallbladder (19.1), and Islet of Langerhans (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EXT1 Gene

SOURCE GeneReport for Unigene cluster for EXT1 Gene Hs.492618

mRNA Expression by UniProt/SwissProt for EXT1 Gene

Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with EXT1: view

Protein tissue co-expression partners for EXT1 Gene

Primer Products

Orthologs for EXT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EXT1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia EXT1 35
  • 96.56 (n)
  • 99.33 (a)
EXT1 36
  • 99 (a)
(Canis familiaris)
Mammalia EXT1 35
  • 96.69 (n)
  • 99.2 (a)
EXT1 36
  • 99 (a)
(Mus musculus)
Mammalia Ext1 35
  • 95.84 (n)
  • 99.33 (a)
Ext1 16
Ext1 36
  • 99 (a)
(Pan troglodytes)
Mammalia EXT1 35
  • 99.82 (n)
  • 99.87 (a)
EXT1 36
  • 97 (a)
(Rattus norvegicus)
Mammalia Ext1 35
  • 95.98 (n)
  • 99.33 (a)
(Monodelphis domestica)
Mammalia EXT1 36
  • 97 (a)
(Ornithorhynchus anatinus)
Mammalia EXT1 36
  • 98 (a)
(Gallus gallus)
Aves LOC100858205 35
  • 85.86 (n)
  • 92.3 (a)
-- 36
  • 91 (a)
-- 36
  • 84 (a)
(Anolis carolinensis)
Reptilia EXT1 36
  • 92 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ext1 35
  • 82.57 (n)
  • 90.24 (a)
Str.4465 35
(Danio rerio)
Actinopterygii ext1b 35
  • 76.07 (n)
  • 84.48 (a)
EXT1 (1 of 4) 36
  • 73 (a)
EXT1 (3 of 4) 36
  • 65 (a)
EXT1 (4 of 4) 36
  • 88 (a)
ext1a 36
  • 85 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6102 35
fruit fly
(Drosophila melanogaster)
Insecta ttv 37
  • 52 (a)
ttv 35
  • 58.15 (n)
  • 56.91 (a)
ttv 36
  • 53 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010388 35
  • 49.08 (n)
  • 42.15 (a)
(Caenorhabditis elegans)
Secernentea rib-1 37
  • 49 (a)
rib-1 35
  • 52.58 (n)
  • 50.89 (a)
rib-1 36
  • 46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1939 36
  • 51 (a)
Species with no ortholog for EXT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EXT1 Gene

Gene Tree for EXT1 (if available)
Gene Tree for EXT1 (if available)

Paralogs for EXT1 Gene

Paralogs for EXT1 Gene

(2) SIMAP similar genes for EXT1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with EXT1: view

Variants for EXT1 Gene

Sequence variations from dbSNP and Humsavar for EXT1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_002370 Hereditary multiple exostoses 1 (EXT1)
VAR_002371 Hereditary multiple exostoses 1 (EXT1)
VAR_002372 Hereditary multiple exostoses 1 (EXT1)
VAR_002373 Hereditary multiple exostoses 1 (EXT1)
VAR_002374 Hereditary multiple exostoses 1 (EXT1)

Structural Variations from Database of Genomic Variants (DGV) for EXT1 Gene

Variant ID Type Subtype PubMed ID
nsv831438 CNV Loss 17160897
nsv831439 CNV Gain 17160897
nsv820050 CNV Gain 19587683
nsv831440 CNV Gain 17160897
nsv512062 CNV Loss 21212237
esv2664743 CNV Deletion 23128226
esv2737477 CNV Deletion 23290073
esv29814 CNV Loss 19812545
nsv515058 CNV Complex 21397061
nsv891411 CNV Loss 21882294
nsv465785 CNV Loss 19166990
esv2606814 CNV Deletion 19546169
esv1925197 CNV Deletion 18987734
esv2737478 CNV Deletion 23290073
esv7867 CNV Loss 19470904
esv2678041 CNV Deletion 23128226
dgv252n6 CNV Loss 16902084
esv2447144 CNV Deletion 19546169
nsv513684 OTHER Inversion 21212237
nsv512063 CNV Loss 21212237
esv2668860 CNV Deletion 23128226
nsv513685 OTHER Inversion 21212237
nsv831441 CNV Gain 17160897
esv2752195 CNV Gain 17911159
nsv526044 CNV Loss 19592680
nsv821660 CNV Loss 15273396
nsv891412 CNV Loss 21882294

Variation tolerance for EXT1 Gene

Residual Variation Intolerance Score: 3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.23; 24.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EXT1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXT1 Gene

Disorders for EXT1 Gene

MalaCards: The human disease database

(26) MalaCards diseases for EXT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • chondrosarcoma of bone
exostoses, multiple, type 1
  • hereditary multiple exostoses 1
trichorhinophalangeal syndrome, type ii
  • lennox-gastaut syndrome
hereditary multiple osteochondromas
  • diaphyseal aclasis
hereditary multiple osteochondromatosis, type i
  • hereditary multiple exostoses, type i
- elite association - COSMIC cancer census association via MalaCards
Search EXT1 in MalaCards View complete list of genes associated with diseases


  • Chondrosarcoma (CHDSA) [MIM:215300]: A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hereditary multiple exostoses 1 (EXT1) [MIM:133700]: EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. {ECO:0000269 PubMed:10441575, ECO:0000269 PubMed:10480354, ECO:0000269 PubMed:11169766, ECO:0000269 PubMed:8981950, ECO:0000269 PubMed:9326317, ECO:0000269 PubMed:9463333, ECO:0000269 PubMed:9521425, ECO:0000269 Ref.10}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Tricho-rhino-phalangeal syndrome 2 (TRPS2) [MIM:150230]: A syndrome that combines the clinical features of tricho-rhino-phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients.

Genatlas disease for EXT1 Gene

exostoses,multiple,1,also associated with trichorhinophalangeal syndrome in Langer-Giedion syndrome (see LGCR)

Relevant External Links for EXT1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with EXT1: view

Publications for EXT1 Gene

  1. Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. (PMID: 9463333) Wuyts W. … Willems P.J. (Am. J. Hum. Genet. 1998) 3 4 23 67
  2. 8q23-q24 duplication--further delineation of a rare chromosomal abnormality. (PMID: 20101682) Wheeler P.G. (Am. J. Med. Genet. A 2010) 3 23
  3. Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene. (PMID: 18330718) Sfar S. … Chouchane L. (Mol. Biol. Rep. 2009) 3 23
  4. Aberrant heparan sulfate proteoglycan localization, despite normal exostosin, in central chondrosarcoma. (PMID: 19179614) Schrage Y.M. … BovAce J.V. (Am. J. Pathol. 2009) 3 23
  5. Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin. (PMID: 19309273) Vanita V. … Singh J.R. (Genet Test Mol Biomarkers 2009) 3 23

Products for EXT1 Gene

Sources for EXT1 Gene