UniProt ID | EXT1_HUMAN | |
---|---|---|
UniProt AC | Q16394 | |
Protein Name | Exostosin-1 | |
Gene Name | EXT1 | |
Organism | Homo sapiens (Human). | |
Sequence Length | 746 | |
Subcellular Localization |
Endoplasmic reticulum membrane Single-pass type II membrane protein . Golgi apparatus membrane Single-pass type II membrane protein . The EXT1/EXT2 complex is localized in the Golgi apparatus. |
|
Protein Description | Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan. [PubMed: 22660413] | |
Protein Sequence | MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQLENEDSSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVEKIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKFTAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIEGESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWDNSKERWGYTSKWTNDYSMVLTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFLVSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQRQSCMNTFASWFGYMPLIHSQMRLDPVLFKDQVSILRKKYRDIERL | |
Overview of Protein Modification Sites with Functional and Structural Information | ||
* ASA = Accessible Surface Area
Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
---|---|---|---|---|---|
29 | Methylation | YFGGLQFRASRSHSR HHCCCCEEECCCCCC | 20.77 | - | |
89 | N-linked_Glycosylation | PRQKRDANSSIYKGK HHHCCCCCCCCCCCC | 40.35 | UniProtKB CARBOHYD | |
123 | Ubiquitination | VYVYPQQKGEKIAES EEEEECCCCHHHHHH | 64.88 | 29967540 | |
130 | Phosphorylation | KGEKIAESYQNILAA CCHHHHHHHHHHHHH | 24.01 | 26670566 | |
131 | Phosphorylation | GEKIAESYQNILAAI CHHHHHHHHHHHHHH | 9.33 | 18491316 | |
141 | Phosphorylation | ILAAIEGSRFYTSDP HHHHHHCCCCCCCCH | 13.36 | 24888630 | |
238 | Phosphorylation | DVSIPLFSKDHPRTG EEEEEEECCCCCCCC | 44.87 | 24719451 | |
330 | N-linked_Glycosylation | DYREMLHNATFCLVP CHHHHHHHCEEEEEC | 36.39 | UniProtKB CARBOHYD | |
344 | Phosphorylation | PRGRRLGSFRFLEAL CCCCCCCHHHHHHHH | 20.17 | 24719451 | |
532 | O-linked_Glycosylation | AKHRWPATAVPVVVI CCCCCCCCEECEEEE | 24.90 | OGP | |
617 | Phosphorylation | SKWTNDYSMVLTGAA CCCCCCCEEHHHHHH | 12.79 | 21712546 | |
621 | Phosphorylation | NDYSMVLTGAAIYHK CCCEEHHHHHHHHHH | 17.23 | 29507054 | |
626 | Phosphorylation | VLTGAAIYHKYYHYL HHHHHHHHHHHHHHH | 6.37 | 29507054 |
Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
---|---|---|---|---|---|---|
Oops, there are no upstream regulatory protein records of EXT1_HUMAN !! |
Modified Location | Modified Residue | Modification | Function | Reference | ||
---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of EXT1_HUMAN !! |
* Distance = the distance between SAP position and PTM sites.
Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of EXT1_HUMAN !! |
Interacting Protein | Gene Name | Interaction Type | PPI Reference | Domain-Domain Interactions |
---|---|---|---|---|
CNTF_HUMAN | CNTF | physical | 17353931 | |
OSTF1_HUMAN | OSTF1 | physical | 17353931 | |
EXT1_HUMAN | EXT1 | physical | 10679296 | |
EXT2_HUMAN | EXT2 | physical | 10679296 | |
TRAP1_HUMAN | TRAP1 | physical | 10545594 |
Kegg Disease | ||||||
---|---|---|---|---|---|---|
H00122 | Multiple exostoses | |||||
H00493 | Heparan sulfate proteoglycan gene defects, including: Dyssegmental dysplasia, Silverman-Handmaker ty | |||||
OMIM Disease | ||||||
133700 | Hereditary multiple exostoses 1 (EXT1) | |||||
150230 | Tricho-rhino-phalangeal syndrome 2 (TRPS2) | |||||
215300 | Chondrosarcoma (CHDSA) | |||||
Kegg Drug | ||||||
There are no disease associations of PTM sites. | ||||||
DrugBank | ||||||
There are no disease associations of PTM sites. |
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