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Aliases for EXT1 Gene

Aliases for EXT1 Gene

  • Exostosin Glycosyltransferase 1 2 3
  • 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 2.4.1.224 4
  • EC 2.4.1.225 4
  • Exostosin-1 3
  • TRPS2 3
  • LGCR 3
  • EXT 3
  • TTV 3
  • LGS 3

External Ids for EXT1 Gene

Previous Symbols for EXT1 Gene

  • LGCR
  • LGS

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 hereditary multiple exostoses and chondrosarcoma. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include protein homodimerization activity and glucuronosyltransferase activity. 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.

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

Genomic Location for EXT1 Gene

Start:
117,794,490 bp from pter
End:
118,111,853 bp from pter
Size:
317,364 bases
Orientation:
Minus strand

Genomic View for EXT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EXT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXT1 Gene

Regulatory Elements for EXT1 Gene

Proteins for EXT1 Gene

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

    Protein Symbol:
    Q16394-EXT1_HUMAN
    Recommended name:
    Exostosin-1
    Protein Accession:
    Q16394
    Secondary Accessions:
    • B2R7V2
    • Q9BVI9

    Protein attributes for EXT1 Gene

    Size:
    746 amino acids
    Molecular mass:
    86255 Da
    Cofactor:
    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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn89 and Asn330

Other Protein References for EXT1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for EXT1 Gene

Domains for EXT1 Gene

Gene Families for EXT1 Gene

HGNC:
  • EXT :Exostosin glycosyltransferase family

Protein Domains for EXT1 Gene

UniProtKB/Swiss-Prot:

EXT1_HUMAN
Family:
  • Belongs to the glycosyltransferase 47 family.:
    • Q16394
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.

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 IDA 12907669
GO:0016757 transferase activity, transferring glycosyl groups IDA 12907669
GO:0016758 transferase activity, transferring hexosyl groups --
GO:0042328 heparan sulfate N-acetylglucosaminyltransferase activity NAS 12907669
genes like me logo Genes that share ontologies with EXT1: view
genes like me logo Genes that share phenotypes with EXT1: view

Animal Models for EXT1 Gene

MGI Knock Outs for EXT1:

miRNA for EXT1 Gene

miRTarBase miRNAs that target EXT1

No data available for Transcription Factor Targeting 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

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

Gene Ontology (GO) - Cellular Components for EXT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS 12907669
GO:0005783 endoplasmic reticulum IDA 9620772
GO:0005789 endoplasmic reticulum membrane NAS 9620772
GO:0005794 Golgi apparatus IDA 10639137
GO:0016021 integral component of membrane TAS 9620772
genes like me logo Genes that share ontologies with EXT1: view

Pathways 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:0001501 skeletal system development TAS 9620772
GO:0001503 ossification IMP 7550340
GO:0005975 carbohydrate metabolic process TAS --
GO:0006024 glycosaminoglycan biosynthetic process TAS --
GO:0006486 protein glycosylation IEA --
genes like me logo Genes that share ontologies with EXT1: view

Compounds for EXT1 Gene

(2) HMDB Compounds for EXT1 Gene

Compound Synonyms Cas Number PubMed IDs
Uridine 5'-diphosphate
  • 5'-UDP
58-98-0
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
528-04-1

(4) Novoseek inferred chemical compound relationships for EXT1 Gene

Compound -log(P) Hits PubMed IDs
heparan sulfate 84.7 57
glycosaminoglycan 25.3 1
arginine 3.77 1
heparin 0 1
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: -
SP2:
SP3: - - -

Relevant External Links for EXT1 Gene

GeneLoc Exon Structure for
EXT1
ECgene alternative splicing isoforms for
EXT1

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 (5.2).

Integrated Proteomics: protein expression 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

Q16394-EXT1_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with EXT1: view

Orthologs for EXT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EXT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXT1 36
  • 99.82 (n)
  • 99.87 (a)
EXT1 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EXT1 36
  • 96.56 (n)
  • 99.33 (a)
EXT1 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EXT1 36
  • 96.69 (n)
  • 99.2 (a)
EXT1 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ext1 36
  • 95.84 (n)
  • 99.33 (a)
Ext1 16
Ext1 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EXT1 37
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXT1 37
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ext1 36
  • 95.98 (n)
  • 99.33 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 91 (a)
OneToMany
-- 37
  • 84 (a)
OneToMany
LOC100858205 36
  • 85.86 (n)
  • 92.3 (a)
lizard
(Anolis carolinensis)
Reptilia EXT1 37
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ext1 36
  • 82.57 (n)
  • 90.24 (a)
Str.4465 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6102 36
zebrafish
(Danio rerio)
Actinopterygii EXT1 (1 of 4) 37
  • 73 (a)
OneToMany
EXT1 (3 of 4) 37
  • 65 (a)
OneToMany
EXT1 (4 of 4) 37
  • 88 (a)
OneToMany
ext1a 37
  • 85 (a)
OneToMany
ext1b 36
  • 76.07 (n)
  • 84.48 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010388 36
  • 49.08 (n)
  • 42.15 (a)
fruit fly
(Drosophila melanogaster)
Insecta ttv 36
  • 58.15 (n)
  • 56.91 (a)
ttv 37
  • 53 (a)
OneToMany
ttv 38
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea rib-1 36
  • 52.58 (n)
  • 50.89 (a)
rib-1 37
  • 46 (a)
OneToMany
rib-1 38
  • 49 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1939 37
  • 51 (a)
OneToMany
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

ENSEMBL:
Gene Tree for EXT1 (if available)
TreeFam:
Gene Tree for EXT1 (if available)

Paralogs for EXT1 Gene

Paralogs for EXT1 Gene

Selected 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 MAF
rs1188 -- 118,035,219(+) ACTCA(A/G)TGTGG intron-variant
rs1838 -- 118,069,965(-) TAAAA(C/T)GTGTA intron-variant
rs1839 -- 118,069,989(-) TGCTT(A/C)AAGCC intron-variant
rs880400 -- 117,968,100(-) ATTTT(A/T)ttgtt intron-variant
rs881989 -- 118,038,312(-) CCAAT(A/T)TACCT intron-variant

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

Relevant External Links for EXT1 Gene

HapMap Linkage Disequilibrium report
EXT1
Human Gene Mutation Database (HGMD)
EXT1
Locus Specific Mutation Databases (LSDB)
EXT1

Disorders for EXT1 Gene

(2) OMIM Diseases for EXT1 Gene (608177)

UniProtKB/Swiss-Prot

EXT1_HUMAN
  • 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.9}. 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.
  • 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.

(17) Novoseek inferred disease relationships for EXT1 Gene

Disease -log(P) Hits PubMed IDs
exostoses multiple hereditary 98.9 89
exostoses 94.3 8
langer-giedion syndrome 91.2 5
osteochondroma 89.8 22
chondrosarcoma 84.2 20

Genatlas disease for EXT1 Gene

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

Relevant External Links for EXT1

GeneTests
EXT1
GeneReviews
EXT1
Genetic Association Database (GAD)
EXT1
Human Genome Epidemiology (HuGE) Navigator
EXT1
genes like me logo Genes that share disorders with EXT1: view

Publications for EXT1 Gene

  1. Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. (PMID: 8981950) Hecht J.T. … Wells D.E. (Am. J. Hum. Genet. 1997) 3 4 23
  2. Genomic organization and promoter structure of the human EXT1 gene. (PMID: 9119404) Luedecke H.-J. … Wells D.E. (Genomics 1997) 3 4 23
  3. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. (PMID: 9326317) Philippe C. … Monaco A.P. (Am. J. Hum. Genet. 1997) 3 4 23
  4. 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
  5. EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. (PMID: 10441575) Bovee J.V.M.G. … Hogendoorn P.C.W. (Am. J. Hum. Genet. 1999) 3 4 23

Products for EXT1 Gene

Sources for EXT1 Gene

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