| UniProt ID | PAX3_HUMAN | |
|---|---|---|
| UniProt AC | P23760 | |
| Protein Name | Paired box protein Pax-3 | |
| Gene Name | PAX3 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 479 | |
| Subcellular Localization | Nucleus . | |
| Protein Description | Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10. [PubMed: 21965087] | |
| Protein Sequence | MTTLAGAVPRMMRPGPGQNYPRSGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIVEMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPKQVTTPDVEKKIEEYKRENPGMFSWEIRDKLLKDAVCDRNTVPSVSSISRILRSKFGKGEEEEADLERKEAEESEKKAKHSIDGILSERASAPQSDEGSDIDSEPDLPLKRKQRRSRTTFTAEQLEELERAFERTHYPDIYTREELAQRAKLTEARVQVWFSNRRARWRKQAGANQLMAFNHLIPGGFPPTAMPTLPTYQLSETSYQPTSIPQAVSDPSSTVHRPQPLPPSTVHQSTIPSNPDSSSAYCLPSTRHGFSSYTDSFVPPSGPSNPMNPTIGNGLSPQVMGLLTNHGGVPHQPQTDYALSPLTGGLEPTTTVSASCSQRLDHMKSLDSLPTSQSYCPPTYSTTGYSMDPVTGYQYGQYGQSKPWTF | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 2 | Phosphorylation | ------MTTLAGAVP ------CCCHHCCCC | 30.43 | 29262532 | |
| 3 | Phosphorylation | -----MTTLAGAVPR -----CCCHHCCCCC | 17.20 | 29262532 | |
| 107 | Acetylation | AIGGSKPKQVTTPDV CCCCCCCCCCCCCCH | 62.22 | 7975495 | |
| 116 | Acetylation | VTTPDVEKKIEEYKR CCCCCHHHHHHHHHH | 59.92 | 7975507 | |
| 121 | Phosphorylation | VEKKIEEYKRENPGM HHHHHHHHHHHCCCC | 11.53 | - | |
| 155 | Phosphorylation | VPSVSSISRILRSKF CCCHHHHHHHHHHHH | 18.40 | 25247763 | |
| 182 | Acetylation | KEAEESEKKAKHSID HHHHHHHHHHHHHHH | 68.27 | 19828281 | |
| 183 | Acetylation | EAEESEKKAKHSIDG HHHHHHHHHHHHHHH | 59.63 | 19828291 | |
| 187 (in isoform 3) | Phosphorylation | - | 22.97 | 24719451 | |
| 197 | Phosphorylation | GILSERASAPQSDEG HHHHCCCCCCCCCCC | 46.86 | 22617229 | |
| 201 | Phosphorylation | ERASAPQSDEGSDID CCCCCCCCCCCCCCC | 36.25 | 27251789 | |
| 204 (in isoform 3) | Phosphorylation | - | 35.29 | 24719451 | |
| 205 | Phosphorylation | APQSDEGSDIDSEPD CCCCCCCCCCCCCCC | 29.37 | 27251789 | |
| 209 | Phosphorylation | DEGSDIDSEPDLPLK CCCCCCCCCCCCCCC | 51.90 | 21440083 | |
| 436 | Ubiquitination | CSQRLDHMKSLDSLP HHHHHHHHHCCCCCC | 2.92 | 17662948 | |
| 436 | Acetylation | CSQRLDHMKSLDSLP HHHHHHHHHCCCCCC | 2.92 | 17662948 | |
| 437 | Ubiquitination | SQRLDHMKSLDSLPT HHHHHHHHCCCCCCC | 44.43 | 17662948 | |
| 437 | Acetylation | SQRLDHMKSLDSLPT HHHHHHHHCCCCCCC | 44.43 | 21169561 | |
| 475 | Ubiquitination | YGQYGQSKPWTF--- CCCCCCCCCCCC--- | 36.37 | - | |
| 475 | Acetylation | YGQYGQSKPWTF--- CCCCCCCCCCCC--- | 36.37 | 21169561 | |
| 496 (in isoform 8) | Phosphorylation | - | - | ||
| 497 (in isoform 8) | Phosphorylation | - | - |
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of PAX3_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 PAX3_HUMAN !! | ||||||
| Interacting Protein | Gene Name | Interaction Type | PPI Reference | Domain-Domain Interactions |
|---|---|---|---|---|
| IPO13_HUMAN | IPO13 | physical | 15143176 | |
| SOX10_HUMAN | SOX10 | physical | 12668617 | |
| DAXX_HUMAN | DAXX | physical | 10393185 | |
| MSX1_HUMAN | MSX1 | physical | 10529415 | |
| MEOX1_HUMAN | MEOX1 | physical | 11423130 | |
| MEOX2_HUMAN | MEOX2 | physical | 11423130 | |
| SOX10_HUMAN | SOX10 | genetic | 10942418 | |
| HDA10_HUMAN | HDAC10 | physical | 20032463 | |
| TIF1B_HUMAN | TRIM28 | physical | 20032463 | |
| TIF1B_HUMAN | TRIM28 | physical | 16945326 | |
| TAF1_HUMAN | TAF1 | physical | 21145483 | |
| FZR1_HUMAN | FZR1 | physical | 26329581 |
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| There are no disease associations of PTM sites. | ||||||
| OMIM Disease | ||||||
| 193500 | Waardenburg syndrome 1 (WS1) | |||||
| 148820 | Waardenburg syndrome 3 (WS3) | |||||
| 122880 | Craniofacial-deafness-hand syndrome (CDHS) | |||||
| 268220 | Rhabdomyosarcoma 2 (RMS2) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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| Phosphorylation | |
| Reference | PubMed |
| "Identification of serines 201 and 209 as sites of Pax3phosphorylation and the altered phosphorylation status of Pax3-FOXO1during early myogenic differentiation."; Dietz K.N., Miller P.J., Iyengar A.S., Loupe J.M., Hollenbach A.D.; Int. J. Biochem. Cell Biol. 43:936-945(2011). Cited for: PHOSPHORYLATION AT SER-201; SER-205 AND SER-209. | |