Sign in to NCBI
Format

Send to:

Choose Destination

EXT1 exostosin glycosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 2131, updated on 11-Sep-2019

Summary

Go to the top of the page Help
Official Symbol
EXT1provided by HGNC
Official Full Name
exostosin glycosyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:3512
See related
Ensembl:ENSG00000182197 MIM:608177
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EXT; LGS; TTV; LGCR; TRPS2
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]
Expression
Ubiquitous expression in duodenum (RPKM 18.7), small intestine (RPKM 16.2) and 25 other tissues See more
Orthologs
mouse all

Genomic context

Go to the top of the page Help
See EXT1 in Genome Data Viewer
Location:
8q24.11
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (117799363..118111819, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (118811602..119124058, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375721 Neighboring gene uncharacterized LOC107986970 Neighboring gene EXT1 intron enhancer-blocking element 8-1-1 Neighboring gene small nucleolar RNA, C/D box 168 Neighboring gene sterile alpha motif domain containing 12 Neighboring gene uncharacterized LOC105375724 Neighboring gene SAMD12 antisense RNA 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses. Guo X, et al. Int J Oncol, 2019 Mar. PMID 30664192, Free PMC Article
  2. A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas. Chen Z, et al. Genet Test Mol Biomarkers, 2019 Apr. PMID 29989442
  3. [Identification of a novel EXT1 mutation in a pedigree affected with hereditary multiple exostosis]. Lou G, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2018 Feb 10. PMID 29419870
  4. [Analysis of a multiple osteochondroma case caused by novel splice mutation (c.1164+1G to A) of EXT1 gene]. Guo X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2017 Jun 10. PMID 28604967
  5. Identification of a novel mutation in the EXT1 gene from a patient with multiple osteochondromas by exome sequencing. Hong G, et al. Mol Med Rep, 2017 Feb. PMID 28035357, Free PMC Article

See all (108) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. identification of mutations in EXT1 and EXT2 in Cypriot patients with a clinical diagnosis of hereditary multiple osteochondromas (HMO); five patients, representing the first report of genetic screening of HMO affected individuals in the Cypriot population are described
    Title: Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.
  2. Mutations of the EXT1 and EXT2 genes probably underlie the hereditary multiple exostosis in both pedigrees
    Title: [Analysis of EXT1 and EXT2 gene mutations in two Chinese pedigrees affected with hereditary multiple exostosis].
  3. In a family with Multiple Osteochondromas a heterozygous mutation (c.1056G>T) was identified in exon 2 of the EXT1 gene in the proband and other affected family members; this mutation was not found in the unaffected family members.
    Title: A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas.
  4. Mutations in EXT1 c.79 T>A and c.1284 + 8 delAT are associated with hereditary multiple exostosis (HME) in Chinese patients
    Title: The role of EXT1 gene mutation and its high expression of calcitonin gene-related peptide in the development of multiple exostosis.
  5. Heterozygous splice mutation in exostosin glycosyltransferase 1 (EXT1) gene is identified in a threegeneration family with hereditary multiple exostoses (HME).The expression of wildtype EXT1/EXT2 mRNA in patients with HME is decreased comparing with normal control participants. The truncated peptide produced from the abnormally spliced transcript is expressed in the cytoplasm without degradation.
    Title: A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses.
  6. The present study identified pathogenic mutations in 93% (68/73) of unrelated hereditary multiple osteochondromasprobands from 73 pedigrees. Mutations in EXT1 and EXT2 were identified in 53% (39/73) and 40% (29/73) of families.
    Title: Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.
  7. Exons and flanking regions of the EXT1 and EXT2 genes were analyzed from the genomic DNA of 153 patients in 114 families with multiple osteochondromas. We identified 33 variants in EXT1 (13 frameshift, 11 nonsense, 5 missense, 2 splice site mutation, and 2 large deletions) in and 17 (6 frameshift, 6 splice site mutation, 3 nonsense, 1 missense, and 1 large deletion) in EXT2 gene. Of all 50 variants, 31 (62%) were novel.
    Title: Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.
  8. RT-PCR analysis showed that the overall transcriptional activity of the main Heparan Sulfate biosynthesis-involved genes (EXT1, EXT2, NDST1, NDST2, GLCE, HS2ST1, HS3ST1, HS3ST2, HS6ST1, HS6ST2, SULF1, SULF2, HPSE) was decreased by 1.5-2-fold in Grade II-III glioma.
    Title: Heparan Sulfate Biosynthetic System Is Inhibited in Human Glioma Due to EXT1/2 and HS6ST1/2 Down-Regulation.
  9. The nine mutations identified by targeted next-generation sequencing include two missense mutations (EXT1: c.1088G>A and c.2120C>T), one splicing mutation (EXT2: c.744-1G>T)
    Title: Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.
  10. A novel heterozygous frameshift mutation was found in exon 4 of the exostosin-1 (EXT1) gene in the proband and the other 6 hereditary multiple exostosis (HME) affected individuals.
    Title: [Identification of a novel EXT1 mutation in a pedigree affected with hereditary multiple exostosis].
Submit: New GeneRIF Correction See all GeneRIFs (73)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Chondrosarcoma
MedGen: C0008479 OMIM: 215300 GeneReviews: Not available
Compare labs
Multiple congenital exostosis
MedGen: C0015306 OMIM: 133700 GeneReviews: Hereditary Multiple Osteochondromas
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-01-12)

ClinGen Genome Curation PagePubMed
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-01-12)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Identification of 15 loci influencing height in a Korean population.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from BioSystems

Go to the top of the page Help

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
acetylglucosaminyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
glucuronosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
glucuronosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
heparan sulfate N-acetylglucosaminyltransferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
  
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
transferase activity, transferring glycosyl groups IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
transferase activity, transferring glycosyl groups IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
axon guidance IEA
Inferred from Electronic Annotation
more info
  
cellular polysaccharide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
embryonic skeletal joint development IEA
Inferred from Electronic Annotation
more info
  
endoderm development IEA
Inferred from Electronic Annotation
more info
  
gastrulation IEA
Inferred from Electronic Annotation
more info
  
glycosaminoglycan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
glycosaminoglycan biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
glycosaminoglycan biosynthetic process TAS
Traceable Author Statement
more info
  
heparan sulfate proteoglycan biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
heparan sulfate proteoglycan biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
mesoderm development IEA
Inferred from Electronic Annotation
more info
  
olfactory bulb development IEA
Inferred from Electronic Annotation
more info
  
ossification IMP
Inferred from Mutant Phenotype
more info
 PubMed 
protein glycosylation IEA
Inferred from Electronic Annotation
more info
  
signal transduction TAS
Traceable Author Statement
more info
 PubMed 
skeletal system development TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
 PubMed 
integral component of endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
integral component of membrane TAS
Traceable Author Statement
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
exostosin-1
Names
Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
Langer-Giedion syndrome chromosome region
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
exostoses (multiple) 1
glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
multiple exostoses protein 1
putative tumor suppressor protein EXT1
NP_000118.2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007455.2 RefSeqGene

    Range
    5001..317457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_493

mRNA and Protein(s)

  1. NM_000127.2 → NP_000118.2  exostosin-1

    See identical proteins and their annotated locations for NP_000118.2

    Status: REVIEWED

    Source sequence(s)
    BC001174, U70539
    Consensus CDS
    CCDS6324.1
    UniProtKB/Swiss-Prot
    Q16394
    Related
    ENSP00000367446.2, ENST00000378204.6
    Conserved Domains (2) summary
    pfam03016
    Location:110 → 396
    Exostosin; Exostosin family
    pfam09258
    Location:480 → 725
    Glyco_transf_64; Glycosyl transferase family 64 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    117799363..118111819 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16394.2 GenPept UniProtKB/Swiss-Prot:Q16394

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous
You are here: NCBI > Genes & Expression > Gene
Support Center