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EXT1 exostosin glycosyltransferase 1 [ Homo sapiens (human) ]

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

Summary

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

Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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)

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_000127.2NP_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:110396
    Exostosin; Exostosin family
    pfam09258
    Location:480725
    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)
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