Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

2131

Name

EXT1

Synonymous

EXT|LGCR|LGS|TRPS2|TTV;exostosin glycosyltransferase 1;EXT1;exostosin glycosyltransferase 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|exostosin-1|glucuronosyl-

Position

8q24.11

Gene Type

protein-coding

Gene Regulation:

Upstream microRNAs
Transcription Factors
Post Transcriptional Modification From dbPTM
Methylation Profile From DiseaseMeth database

Experimentally verified miRNA from miRTarBase   [Top]

Experimentally validated miRNA-TS gene regulation information.

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   [Top]

Location (AA)

PTM type

Literature

Database

89N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
330N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0

Methylation Profile   [Top]

Chromosome

Location

Source

chr8

Promoter: 119192739 - 119194739Agilent_014791

chr8

Promoter: 119192739 - 119194739GoldenGate_Methylation_Cancer_Panel_I

chr8

Promoter: 119192739 - 119194739GSE27584

chr8

Promoter: 119192739 - 119194739Agilent_014791_44K

chr8

Promoter: 119192739 - 119194739PMID:15385438


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