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General Information
- Evidence
- Gene
- mRNA
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- Protein
- PTM
- Enzyme
- PPi
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- Domain
- Ontology
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Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 17143621 | 2007 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | Fluorescence in situ hybridization | Amplification | - | CIN-tumor-associated DNA amplifications were identified for�EXT1 |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | Exostosin glycosyltransferase family |
| Description | 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] |
| Chromosome | 8 |
| Location | 8q24.11 |
| Start | 118811602 |
| End | 119124058 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 312457 |
| OMIM ID | 608177 |
| HGNC ID | HGNC:3512 |
| Unigene ID | Hs.492618 |
| Ensembl ID | ENSG00000182197 |
| PharmGKB ID | PA27924 |
mRNA Information
| mRNA ID | NM_000127.2 |
|---|---|
| Exon | join(1..1735,274619..274712,276269..276376,281471..281590, 289223..289355,292026..292144,293290..293385, 298859..298948,304443..304603,306927..307098, 311923..312457) | mRNA Sequence | Download Select all |
| Length | 3376 |
Protein Information
| Protein ID | NP_000118.2 |
|---|---|
| Protein Name | exostosin glycosyltransferase 1 |
| Molecular Wt. (Da) | 86124 |
| Protein Sequence | Download Select all |
| Length | 746 |
| Uniprot ID | P60484 |
| Ensembl Protein ID | ENSP00000361021 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
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 |
|---|---|---|
| pfam09258 | 480-729 | Glyco_transf_64 |
| cl20374 | 480-729 | Glyco_transf_64 superfamily |
| pfam03016 | 110-396 | Exostosin |
| cl20239 | 110-396 | Exostosin superfamily |
Ontology Information
| HPRD ID | 8905 |
|---|---|
| Molecular Class | Enzyme: Glycosyltransferase |
| Molecular Function | G-protein coupled receptor activity (GO:0004930) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165) |
Drug Information
No matching records could be found.