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EXT1 exostosin glycosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 2131, updated on 19-Jul-2021

Summary

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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
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Genomic context

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See EXT1 in Genome Data Viewer
Location:
8q24.11
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (117794490..118111826, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (118806729..119124065, 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Exostosin-1 enhances canonical Wnt signaling activity during chondrogenic differentiation. Wang X, et al. Osteoarthritis Cartilage, 2019 Nov. PMID 31330188
  2. 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
  3. A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas. Chen Z, et al. Genet Test Mol Biomarkers, 2019 Apr. PMID 29989442
  4. [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
  5. [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

See all (118) 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 Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas.
    Title: Identification of Novel Mutations in the <i>EXT1</i> and <i>EXT2</i> Genes of Chinese Patients with Hereditary Multiple Osteochondromas.
  2. Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
    Title: Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
  3. Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.
    Title: Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.
  4. Exostosin-1 enhances canonical Wnt signaling activity during chondrogenic differentiation.
    Title: Exostosin-1 enhances canonical Wnt signaling activity during chondrogenic differentiation.
  5. Study validated EXT1, TM9SF2, and TMED10 as important host factors for vaccinia virus infection.
    Title: A Genome-Wide Haploid Genetic Screen Identifies Heparan Sulfate-Associated Genes and the Macropinocytosis Modulator TMED10 as Factors Supporting Vaccinia Virus Infection.
  6. EXT1- or miR-665-targeted strategies can confer the therapeutic effect of promoting apoptosis by deactivating the ERK1/2 pathway.
    Title: EXT1, Regulated by MiR-665, Promotes Cell Apoptosis via ERK1/2 Signaling Pathway in Acute Lymphoblastic Leukemia.
  7. 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.
  8. 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].
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (79)

Phenotypes

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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
Identification of 15 loci influencing height in a Korean population.
GeneReviews: Not available
Multiple congenital exostosis
MedGen: C0015306 OMIM: 133700 GeneReviews: Hereditary Multiple Osteochondromas
Compare labs
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-06-17)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-17)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables acetylglucosaminyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables glucuronosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables glucuronosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glycosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables glycosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables heparan sulfate N-acetylglucosaminyltransferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in TNFSF11-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in antigen processing and presentation IEA
Inferred from Electronic Annotation
more info
  
involved_in axon guidance IEA
Inferred from Electronic Annotation
more info
  
involved_in basement membrane organization IEA
Inferred from Electronic Annotation
more info
  
involved_in blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in bone resorption IEA
Inferred from Electronic Annotation
more info
  
involved_in canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in cartilage development involved in endochondral bone morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cell adhesion mediated by integrin IEA
Inferred from Electronic Annotation
more info
  
involved_in cell fate commitment IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular polysaccharide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to virus IEA
Inferred from Electronic Annotation
more info
  
involved_in chondrocyte hypertrophy IEA
Inferred from Electronic Annotation
more info
  
involved_in chondrocyte proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in chondroitin sulfate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in collagen fibril organization IEA
Inferred from Electronic Annotation
more info
  
involved_in cranial skeletal system development IEA
Inferred from Electronic Annotation
more info
  
involved_in dendrite self-avoidance IEA
Inferred from Electronic Annotation
more info
  
involved_in dendritic cell migration IEA
Inferred from Electronic Annotation
more info
  
involved_in developmental growth involved in morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in embryonic skeletal joint development IEA
Inferred from Electronic Annotation
more info
  
involved_in endochondral bone growth IEA
Inferred from Electronic Annotation
more info
  
involved_in endochondral ossification IEA
Inferred from Electronic Annotation
more info
  
involved_in endoderm development IEA
Inferred from Electronic Annotation
more info
  
involved_in epithelial tube branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in fear response IEA
Inferred from Electronic Annotation
more info
  
involved_in fibroblast growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in fluid transport IEA
Inferred from Electronic Annotation
more info
  
involved_in gastrulation IEA
Inferred from Electronic Annotation
more info
  
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in glandular epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in glomerular basement membrane development IEA
Inferred from Electronic Annotation
more info
  
involved_in glomerular visceral epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in glycosaminoglycan biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in hair follicle morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in heart contraction IEA
Inferred from Electronic Annotation
more info
  
involved_in heart field specification IEA
Inferred from Electronic Annotation
more info
  
involved_in hematopoietic stem cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in hematopoietic stem cell homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in hematopoietic stem cell migration to bone marrow IEA
Inferred from Electronic Annotation
more info
  
involved_in heparan sulfate proteoglycan biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in heparan sulfate proteoglycan biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in heparin biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in hypersensitivity IEA
Inferred from Electronic Annotation
more info
  
involved_in leukocyte tethering or rolling IEA
Inferred from Electronic Annotation
more info
  
involved_in limb joint morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in lymphocyte adhesion to endothelial cell of high endothelial venule IEA
Inferred from Electronic Annotation
more info
  
involved_in lymphocyte migration into lymphoid organs IEA
Inferred from Electronic Annotation
more info
  
involved_in mesenchymal cell differentiation involved in bone development IEA
Inferred from Electronic Annotation
more info
  
involved_in mesoderm development IEA
Inferred from Electronic Annotation
more info
  
involved_in motor behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in multicellular organism growth IEA
Inferred from Electronic Annotation
more info
  
involved_in multicellular organismal water homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in neural crest cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in olfactory bulb development IEA
Inferred from Electronic Annotation
more info
  
involved_in optic nerve development IEA
Inferred from Electronic Annotation
more info
  
involved_in ossification IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ossification involved in bone maturation IEA
Inferred from Electronic Annotation
more info
  
involved_in perichondral bone morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in protein catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein-containing complex assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
  
involved_in response to heparin IEA
Inferred from Electronic Annotation
more info
  
involved_in response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
  
involved_in response to light intensity IEA
Inferred from Electronic Annotation
more info
  
involved_in sebaceous gland development IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in skeletal system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in smoothened signaling pathway involved in lung development IEA
Inferred from Electronic Annotation
more info
  
involved_in social behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium ion homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in stem cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in stomach development IEA
Inferred from Electronic Annotation
more info
  
involved_in sulfation IEA
Inferred from Electronic Annotation
more info
  
involved_in sweat gland development IEA
Inferred from Electronic Annotation
more info
  
involved_in synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
  
involved_in tight junction organization IEA
Inferred from Electronic Annotation
more info
  
involved_in vacuole organization IEA
Inferred from Electronic Annotation
more info
  
involved_in vasodilation IEA
Inferred from Electronic Annotation
more info
  
involved_in vocalization behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in wound healing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in integral component of endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in integral component of membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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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)

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NEW Try the new Transcript table

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_000127.3 → NP_000118.2  exostosin-1

    See identical proteins and their annotated locations for NP_000118.2

    Status: REVIEWED

    Source sequence(s)
    AC113188, AP003476, BC001174
    Consensus CDS
    CCDS6324.1
    UniProtKB/Swiss-Prot
    Q16394
    Related
    ENSP00000367446.3, ENST00000378204.7
    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 Updated Annotation Release 109.20210514

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
    117794490..118111826 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.

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