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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
EXTL3 2137 exostosin-like glycosyltransferase 3  8botv, REGR 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
18543267   2008Cell line : Colo201, Colo205

Source : -

Sample Type : CRC Tumor and adjacent normal tissue

No. of Sample : -

Stage : -

Methylation-specific PCR Methylation-EXTL3 promoter methylation and its related loss of EXTL3 expression are involved in the loss of HS expression in mucinous CRCs.


Gene Details



NC_000008.10 (28558990..28611207)

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Gene Type protein coding
Gene Family Exostosin glycosyltransferase family
Description This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]  
Chromosome 8
Location 8p22-p12
Start 28558990  
End 28611207  
Strand +  
Gene Sequence

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Length 52218  
OMIM ID 605744   
HGNC ID HGNC:3518   
Unigene ID Hs.491354   
Ensembl ID ENSG00000012232   
PharmGKB ID PA27930   

mRNA Information


mRNA ID NM_001440.3
Exon join(1..187,11985..12078,14113..16735,29751..29878, 36047..36191,41614..41742,49185..52218)  
mRNA Sequence

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Length 6351  



CDS Information


   
Location757..3516
CDS Sequence

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CCDS ID CCDS6070.1



Protein Information


      
Protein IDNP_001431.1
Protein Nameexostosin-like glycosyltransferase 3
Molecular Wt. (Da)104619
Protein Sequence

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Length 919  
Uniprot IDP34995
Ensembl Protein ID ENSP00000292513  



Post-translational Modification Information (Source : HPRD)


No matching records could be found.

Enzyme Information


No matching records could be found.

PPi Information


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No matching records from HPRD source could be found.

Pathway Information


            
Pathway Name Pathway ID
Glycosaminoglycan biosynthesis - heparan sulfate / heparin hsa00534
Metabolic pathways hsa01100


Structure Information


No matching records could be found.

Domain Information




ID Location Description
pfam09258663-904  Glyco_transf_64
cl20374663-904  Glyco_transf_64 superfamily
pfam03016190-499  Exostosin
cl20239190-499  Exostosin superfamily
COG119686-145  Smc
COG119671-150  Smc
pfam1155986-150  ADIP
COG119682-148  Smc
pfam0792689-150  TPR_MLP1_2
TIGR0216968-150  SMC_prok_A
COG119687-148  Smc
TIGR0216956-148  SMC_prok_A
COG041991-150  SbcC
PRK1270527-153  PRK12705
PRK0391869-145  PRK03918
smart0078781-132  Spc7
COG119686-139  Smc


Ontology Information


   
HPRD ID8906
Molecular ClassEnzyme: Glucosaminyltransferase
Molecular FunctionG-protein coupled receptor activity (GO:0004930)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



SNP Information


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Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO