| UniProt ID | PAX6_HUMAN | |
|---|---|---|
| UniProt AC | P26367 | |
| Protein Name | Paired box protein Pax-6 | |
| Gene Name | PAX6 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 422 | |
| Subcellular Localization | Nucleus. | |
| Protein Description | Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes.. | |
| Protein Sequence | MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ | |
| 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 |
|---|---|---|---|---|---|
| 4 | Phosphorylation | ----MQNSHSGVNQL ----CCCCCCCCCCC | 11.35 | 22210691 | |
| 6 | Phosphorylation | --MQNSHSGVNQLGG --CCCCCCCCCCCCC | 44.23 | 22210691 | |
| 35 | Phosphorylation | KIVELAHSGARPCDI HHHHHHHCCCCCCCH | 28.65 | 24114839 | |
| 55 | Ubiquitination | VSNGCVSKILGRYYE CCCCHHHHHHHHHHC | 22.89 | - | |
| 61 | Phosphorylation | SKILGRYYETGSIRP HHHHHHHHCCCCCCC | 12.97 | 22817900 | |
| 68 (in isoform 2) | Phosphorylation | - | 28.52 | - | |
| 145 | Acetylation | GADGMYDKLRMLNGQ CCCCHHHHHHHHCCC | 22.09 | 26051181 | |
| 215 | Phosphorylation | RKLQRNRTSFTQEQI HHHHHCCCCCCHHHH | 31.57 | 22199227 | |
| 216 | Phosphorylation | KLQRNRTSFTQEQIE HHHHCCCCCCHHHHH | 24.06 | 27422710 | |
| 218 | Phosphorylation | QRNRTSFTQEQIEAL HHCCCCCCHHHHHHH | 30.85 | 22199227 | |
| 281 | Phosphorylation | QRRQASNTPSHIPIS HHHHHHCCCCCCCCC | 24.55 | 16407227 | |
| 303 | Phosphorylation | YQPIPQPTTPVSSFT CCCCCCCCCCCHHCC | 38.18 | 16407227 | |
| 304 | Phosphorylation | QPIPQPTTPVSSFTS CCCCCCCCCCHHCCC | 28.51 | 16407227 | |
| 373 | Phosphorylation | GRSYDTYTPPHMQTH CCCCCCCCCCCCCCC | 32.22 | 16407227 |
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of PAX6_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 PAX6_HUMAN !! | ||||||
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| There are no disease associations of PTM sites. | ||||||
| OMIM Disease | ||||||
| 106210 | Aniridia (AN) | |||||
| 604229 | Peters anomaly (PETAN) | |||||
| 136520 | Foveal hypoplasia 1 (FVH1) | |||||
| 148190 | Keratitis hereditary (KERH) | |||||
| 120200 | Coloboma, ocular, autosomal dominant (COAD) | |||||
| 120430 | Coloboma of optic nerve (COLON) | |||||
| 165550 | Bilateral optic nerve hypoplasia (BONH) | |||||
| 206700 | Aniridia, cerebellar ataxia and mental deficiency (ACAMD) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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