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 | ||
* 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. |