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Search results 501 to 593 out of 593 for Ext1

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Type Details Score
Publication        
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Publication        
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
Publication        
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication
First Author: Lind T
Year: 1998
Journal: J Biol Chem
Title: The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate.
Volume: 273
Issue: 41
Pages: 26265-8
DO Term
Publication
First Author: Simmons AD
Year: 1999
Journal: Hum Mol Genet
Title: A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses.
Volume: 8
Issue: 12
Pages: 2155-64
HT Experiment
Series Id: GSE46898
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
Protein Domain
Type: Family
Description: There are five identified human EXT family proteins (EXT1, EXT2, EXTL1, EXTL2 and EXTL3), which are members of the hereditary multiple exostoses family of tumour suppressors []. Exostosin-2 (EXT2) is a glycosyltransferase required for the biosynthesis of heparan-sulfate []. Hereditary multiple exostoses, a genetic disorder characterised by multiple cartilaginous tumours, is caused by mutations in members of the EXT gene family, EXT1 or EXT2. EXT1 and EXT2 form a hetero-oligomeric complex that leads to the accumulation of both proteins in the Golgi apparatus []. The Golgi-localised EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone [].
Protein
Organism: Mus musculus/domesticus
Length: 122  
Fragment?: true
Publication
First Author: Duncan G
Year: 2001
Journal: J Clin Invest
Title: The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins.
Volume: 108
Issue: 4
Pages: 511-6
Protein Domain
Type: Family
Description: There are five identified human EXT family proteins (EXT1, EXT2, EXTL1, EXTL2 and EXTL3), which are members of the hereditary multiple exostoses family of tumor suppressors []. Exostosin-1 (EXT1) is a glycosyltransferase required for the biosynthesis of heparan-sulfate []. Hereditary multiple exostoses, a genetic disorder characterised by multiple cartilaginous tumors, is caused by mutations in members of the EXT gene family, EXT1 or EXT2. EXT1 and EXT2 form a hetero-oligomeric complex that leads to the accumulation of both proteins in the Golgi apparatus [].
Allele
Name: exostosin glycosyltransferase 1; gene trap LST064, BayGenomics
Allele Type: Gene trapped
Attribute String: Null/knockout, Reporter
Strain
Attribute String: mutant stock, targeted mutation
Allele
Name: exostosin glycosyltransferase 1; targeted mutation 1.2, Val C Sheffield
Allele Type: Targeted
Attribute String: Null/knockout
Allele
Name: exostosin glycosyltransferase 1; targeted mutation 1.1, Val C Sheffield
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
Genotype
Symbol: Ext1/Ext1
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Protein
Organism: Mus musculus/domesticus
Length: 407  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 213  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 190  
Fragment?: false
Genotype
Symbol: Ext1/Ext1
Background: involves: 129P2/OlaHsd * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Ext1/Ext1 Tg(Sp7-cre/ERT)1Hmk/?
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: cn
Has Mutant Allele: true
Publication
First Author: Madson M
Year: 2003
Journal: Plant Cell
Title: The MUR3 gene of Arabidopsis encodes a xyloglucan galactosyltransferase that is evolutionarily related to animal exostosins.
Volume: 15
Issue: 7
Pages: 1662-70
Publication
First Author: Han C
Year: 2004
Journal: Development
Title: Distinct and collaborative roles of Drosophila EXT family proteins in morphogen signalling and gradient formation.
Volume: 131
Issue: 7
Pages: 1563-75
Protein Domain
Type: Family
Description: There are five identified human EXT family proteins (EXT1, EXT2, EXTL1, EXTL2 and EXTL3), which are members of the hereditary multiple exostoses family of tumor suppressors []. They are glycosyltransferases required for the biosynthesis of heparan sulfate. Hereditary multiple exostoses (EXT) is an autosomal dominant disorder that is characterised by the appearance of multiple outgrowths of the long bones (exostoses) at their epiphyses []. Mutations in two homologous genes, EXT1 and EXT2, are responsible for the EXT syndrome. The human and mouse EXT genes have at least two homologues in the invertebrate Caenorhabditis elegans, indicating that they do not function exclusively as regulators of bone growth. EXT1 and EXT2 have both been shown to encode glycosyltransferases involved in the chain elongation step of heparan sulphate biosynthesis [].This entry also includes Arabidopsis Xyloglucan galactosyltransferase KATAMARI1 []and Drosophila melanogaster EXT homologues [].
Protein
Organism: Mus musculus/domesticus
Length: 718  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 701  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 690  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 586  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 786  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 435  
Fragment?: true
Publication
First Author: Kitagawa H
Year: 2007
Journal: J Biol Chem
Title: Expression of rib-1, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes, is indispensable for heparan sulfate synthesis and embryonic morphogenesis.
Volume: 282
Issue: 11
Pages: 8533-44
Genotype
Symbol: Ext1/Ext1<+> Tg(Col2a1-cre)1Bhr/?
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Ext1/Ext1
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Ext1/Ext1<+>
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Ext1/Ext1
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Zygosity: hm
Has Mutant Allele: true
Protein
Organism: Mus musculus/domesticus
Length: 746  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 746  
Fragment?: false
Publication
First Author: Saito T
Year: 1998
Journal: Biochem Biophys Res Commun
Title: Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family.
Volume: 243
Issue: 1
Pages: 61-6
Publication
First Author: Zhong R
Year: 2003
Journal: Trends Plant Sci
Title: Unraveling the functions of glycosyltransferase family 47 in plants.
Volume: 8
Issue: 12
Pages: 565-8
Protein Domain
Type: Domain
Description: There are five identified human EXT family proteins (EXT1, EXT2, EXTL1, EXTL2 and EXTL3), which are members of the hereditary multiple exostoses family of tumor suppressors []. They are glycosyltransferases required for the biosynthesis of heparan sulfate. Hereditary multiple exostoses (EXT) is an autosomal dominant disorder that is characterised by the appearance of multiple outgrowths of the long bones (exostoses) at their epiphyses []. Mutations in two homologous genes, EXT1 and EXT2, are responsible for the EXT syndrome. The human and mouse EXT genes have at least two homologues in the invertebrate Caenorhabditis elegans, indicating that they do not function exclusively as regulators of bone growth. EXT1 and EXT2 have both been shown to encode glycosyltransferases involved in the chain elongation step of heparan sulphate biosynthesis [].In addition to a b-glucuronyltransferase domain, exostosins contain anadditional alpha 1,4-N-acetylglucosaminyltransferase domain that belongs to family GT64 [, ]. Activities of both exostosin GT domains are required for synthesizing the backbone of glycosaminoglycan, heparan sulfate. In plants, many genes have been shown to encode proteins with significant sequence similarity to the exostosinb-glucuronyltransferase domain and therefore are grouped into family GT47 []. This entry represents the GT47 domain of exostosins.
Genotype
Symbol: Ext1/Ext1<+> Hprt1/Hprt1<+>
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Ext1/Ext1 Tg(Col2a1-cre/ERT)KA3Smac/?
Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N
Zygosity: cn
Has Mutant Allele: true
Protein
Organism: Mus musculus/domesticus
Length: 918  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 669  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 669  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 919  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 921  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 832  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 669  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 636  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 330  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 329  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 330  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 330  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 274  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 316  
Fragment?: false
Genotype
Symbol: Ext1/Ext1<+> Tg(Col2a1-rtTA,tetO-cre)22Pjro/?
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Ext1/Ext1 Tg(Col2a1-rtTA,tetO-cre)22Pjro/?
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Ext1/Ext1 Tg(Col2a1-rtTA,tetO-cre)22Pjro/?
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Zygosity: cn
Has Mutant Allele: true
Publication
First Author: Stickens D
Year: 1997
Journal: Biochem Mol Med
Title: Isolation and characterization of the murine homolog of the human EXT2 multiple exostoses gene.
Volume: 61
Issue: 1
Pages: 16-21
Publication
First Author: Nadanaka S
Year: 2013
Journal: J Biol Chem
Title: EXTL2, a member of the EXT family of tumor suppressors, controls glycosaminoglycan biosynthesis in a xylose kinase-dependent manner.
Volume: 288
Issue: 13
Pages: 9321-33
Publication
First Author: Nadanaka S
Year: 2013
Journal: Biochem J
Title: Roles of EXTL2, a member of the EXT family of tumour suppressors, in liver injury and regeneration processes.
Volume: 454
Issue: 1
Pages: 133-45
Publication  
First Author: Tao C
Year: 2022
Journal: Development
Title: Chondroitin sulfate enhances the barrier function of basement membrane assembled by heparan sulfate.
Volume: 149
Issue: 12
Publication
First Author: Morimoto K
Year: 2002
Journal: Biochem Biophys Res Commun
Title: Transgenic expression of the EXT2 gene in developing chondrocytes enhances the synthesis of heparan sulfate and bone formation in mice.
Volume: 292
Issue: 4
Pages: 999-1009
Publication
First Author: Yang Y
Year: 2017
Journal: Am J Respir Cell Mol Biol
Title: Fibroblast Growth Factor Signaling Mediates Pulmonary Endothelial Glycocalyx Reconstitution.
Volume: 56
Issue: 6
Pages: 727-737
Publication
First Author: Stickens D
Year: 2005
Journal: Development
Title: Mice deficient in Ext2 lack heparan sulfate and develop exostoses.
Volume: 132
Issue: 22
Pages: 5055-68
Publication
First Author: Deligny A
Year: 2016
Journal: J Biol Chem
Title: NDST2 (N-Deacetylase/N-Sulfotransferase-2) Enzyme Regulates Heparan Sulfate Chain Length.
Volume: 291
Issue: 36
Pages: 18600-18607
Publication  
First Author: Jochmann K
Year: 2014
Journal: Matrix Biol
Title: Heparan sulfate as a regulator of endochondral ossification and osteochondroma development.
Volume: 34
Pages: 55-63
Publication  
First Author: Jochmann K
Year: 2014
Journal: Matrix Biol
Title: Reprint of: Heparan sulfate as a regulator of endochondral ossification and osteochondroma development.
Volume: 35
Pages: 239-47
Publication
First Author: Nozaki K
Year: 2009
Journal: Am J Physiol Gastrointest Liver Physiol
Title: Altered gastric chief cell lineage differentiation in histamine-deficient mice.
Volume: 296
Issue: 6
Pages: G1211-20
Publication  
First Author: Nadanaka S
Year: 2014
Journal: Matrix Biol
Title: EXTL2 controls liver regeneration and aortic calcification through xylose kinase-dependent regulation of glycosaminoglycan biosynthesis.
Volume: 35
Pages: 18-24