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EXT1 exostosin glycosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 2131, updated on 27-Nov-2024

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; AllianceGenome:HGNC:3512
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (117794490..118111826, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (118922893..119240285, complement)
RS_2024_09 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:118824531-118825096 Neighboring gene Sharpr-MPRA regulatory region 14285 Neighboring gene EXT1 intron enhancer-blocking element 8-1-1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:118943047-118943604 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:118946090-118946796 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:118946797-118947502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:118969244-118969744 Neighboring gene Sharpr-MPRA regulatory region 8624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19477 Neighboring gene small nucleolar RNA, C/D box 168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27835 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:119030582-119031781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:119061597-119062098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:119062099-119062598 Neighboring gene Sharpr-MPRA regulatory region 9283 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:119086733-119087246 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:119087442-119087942 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:119087943-119088443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27836 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:119115463-119116215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19479 Neighboring gene Sharpr-MPRA regulatory region 7200 Neighboring gene sterile alpha motif domain containing 12 Neighboring gene uncharacterized LOC105375724 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:119451504-119452703 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:119547949-119548448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19481 Neighboring gene SAMD12 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:119706863-119707363

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. Novel mutation in the EXT-1 gene in an Iranian family affected with hereditary multiple exostoses. Foroughmand AM, et al. Pak J Biol Sci, 2008 Apr 1. PMID 18810975
  2. Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells. Ropero S, et al. Hum Mol Genet, 2004 Nov 15. PMID 15385438
  3. A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis. Lemos MC, et al. J Clin Endocrinol Metab, 2005 Sep. PMID 15985493
  4. Exostosin-1 enhances canonical Wnt signaling activity during chondrogenic differentiation. Wang X, et al. Osteoarthritis Cartilage, 2019 Nov. PMID 31330188
  5. 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

See all (140) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas.
    Title: A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas.
  2. Exostoisns (EXT1/2) in Head and Neck Cancers: An In Silico Analysis and Clinical Correlates.
    Title: Exostoisns (EXT1/2) in Head and Neck Cancers: An In Silico Analysis and Clinical Correlates.
  3. The exostosin glycosyltransferase 1/STAT3 axis is a driver of breast cancer aggressiveness.
    Title: The exostosin glycosyltransferase 1/STAT3 axis is a driver of breast cancer aggressiveness.
  4. Clinical significance of exostosin 1 in confirmed and suspected lupus membranous nephropathy.
    Title: Clinical significance of exostosin 1 in confirmed and suspected lupus membranous nephropathy.
  5. Exostosin 1 Knockdown Induces Chemoresistance in MV3 Melanoma Cells by Upregulating JNK and MEK/ERK Signaling.
    Title: Exostosin 1 Knockdown Induces Chemoresistance in MV3 Melanoma Cells by Upregulating JNK and MEK/ERK Signaling.
  6. Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family.
    Title: Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family.
  7. Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.
    Title: Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.
  8. Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan.
    Title: Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan.
  9. Immunopathological analysis of the expression of glomerular exostosin 1 and exostosin 2 in Japanese patients with lupus nephritis.
    Title: Immunopathological analysis of the expression of glomerular exostosin 1 and exostosin 2 in Japanese patients with lupus nephritis.
  10. Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma.
    Title: Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma.
Submit: New GeneRIF Correction See all GeneRIFs (91)

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
Exostoses, multiple, type 1
MedGen: CN263289 OMIM: 133700 GeneReviews: Hereditary Multiple Osteochondromas
Compare labs

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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 IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
contributes_to glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-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
  
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 binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 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 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 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 IDA
Inferred from Direct Assay
more info
 PubMed 
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-level 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 podocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in polysaccharide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
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 regulation of tumor necrosis factor-mediated signaling pathway 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 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
  
is_active_in Golgi apparatus IDA
Inferred from Direct Assay
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 
part_of catalytic complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane NAS
Non-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
heparan sulfate co-polymerase subunit EXT1
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
    B2R7V2, Q16394, Q9BVI9
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    117794490..118111826 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    118922893..119240285 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

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Chemical Information
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