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| General information | Expression | Regulation | Mutation | Interaction |
Basic Information | |
|---|---|
Gene ID | 2131 |
Name | EXT1 |
Synonymous | EXT|LGCR|LGS|TRPS2|TTV;exostosin 1;EXT1;exostosin 1 |
Definition | Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|Langer-Giedion syndrome chromosome region|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase|exostoses (multiple) 1|exostosin-1|glucuronosyl-N-acetylgluc |
Position | 8q24.11 |
Gene Type | protein-coding |
Gene Regulation: | Transcription Factors Post Transcriptional Modification From dbPTM Methylation Profile From DiseaseMeth database |
Transcription Factors | | Top | |
Regulation From TransFac database | 2 exostosin-1(h) <==> (exostosin-1(h))2 (binding) | exostosin-2(m) + exostosin-1(h) <==> exostosin-2(m):exostosin-1(h) (binding) | exostosin-1(h) --> exostosin-1(h) (translocation) | EXT1(h) --> exostosin-1(h) (expression). | exostosin-1(h) --> exostosin-1(h) (translocation) | exostosin-1(h) + CNTF(h) <==> exostosin-1(h):CNTF(h) (binding) | exostosin-1(h) + Sh3p2(h) <==> exostosin-1(h):Sh3p2(h) (binding) | EXT1(h) --> exostosin-1(h) (expression). |
|---|
Post Transcriptional Modification From dbPTM | | Top | |
Location (AA) | PTM type | Literature | Database | 89 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | 330 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 |
|---|
Methylation Profile From DiseaseMeth database | | Top | |
Chromosome | Location | Source |
|---|---|---|
chr8 |
Promoter: 119192739 - 119194739 | Agilent_014791 |
chr8 |
Promoter: 119192739 - 119194739 | GoldenGate_Methylation_Cancer_Panel_I |
chr8 |
Promoter: 119192739 - 119194739 | GSE27584 |
chr8 |
Promoter: 119192739 - 119194739 | Agilent_014791_44K |
chr8 |
Promoter: 119192739 - 119194739 | PMID:15385438 |