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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Exostosin-1
Summary
- UniProt ID
- Q16394
- Gene Symbol
-
- EXT1
- Organism
- Homo sapiens (human)
External Links
- GlycoProtDB
- GPDB0011942
- GlyGen
- Q16394
- PubChem
- Q16394
- The Human Metabolome Database
- HMDBP01699
Annotation
- Keyword
-
- 3D-structure
- Disease variant
- Disulfide bond
- Endoplasmic reticulum
- Glycoprotein
- Glycosyltransferase
- Golgi apparatus
- Hereditary multiple exostoses
- Manganese
- Metal-binding
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Tumor suppressor
- Gene Ontology (GO)
| GO Term |
|---|
| catalytic complex |
| endoplasmic reticulum |
| endoplasmic reticulum membrane |
| Golgi membrane |
| Golgi apparatus |
| synapse |
Sequence
MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQLENEDSSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVEKIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKFTAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIEGESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWDNSKERWGYTSKWTNDYSMVLTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFLVSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQRQSCMNTFASWFGYMPLIHSQMRLDPVLFKDQVSILRKKYRDIERL
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 330 |
|
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective EXT1 causes exostoses 1, TRPS2 and CHDS | Homo sapiens |
| Defective EXT2 causes exostoses 2 | Homo sapiens |
| HS-GAG biosynthesis | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:5604 | adult acute lymphocytic leukemia | |
| DOID:5656 | cranial nerve disease | |
| DOID:5675 | cribriform carcinoma | |
| DOID:5688 | Werner syndrome | |
| DOID:631 | fibromyalgia | |
| DOID:633 | myositis | |
| DOID:65 | connective tissue disease | |
| DOID:657 | adenoma | |
| DOID:6688 | autoimmune lymphoproliferative syndrome | |
| DOID:6726 | fibrillary astrocytoma |
