| UniProt ID | EPAS1_HUMAN | |
|---|---|---|
| UniProt AC | Q99814 | |
| Protein Name | Endothelial PAS domain-containing protein 1 | |
| Gene Name | EPAS1 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 870 | |
| Subcellular Localization | Nucleus . Nucleus speckle . Colocalizes with HIF3A in the nucleus and speckles. | |
| Protein Description | Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX seems to activate CTAD (By similarity).. | |
| Protein Sequence | MTADKEKKRSSSERRKEKSRDAARCRRSKETEVFYELAHELPLPHSVSSHLDKASIMRLAISFLRTHKLLSSVCSENESEAEADQQMDNLYLKALEGFIAVVTQDGDMIFLSENISKFMGLTQVELTGHSIFDFTHPCDHEEIRENLSLKNGSGFGKKSKDMSTERDFFMRMKCTVTNRGRTVNLKSATWKVLHCTGQVKVYNNCPPHNSLCGYKEPLLSCLIIMCEPIQHPSHMDIPLDSKTFLSRHSMDMKFTYCDDRITELIGYHPEELLGRSAYEFYHALDSENMTKSHQNLCTKGQVVSGQYRMLAKHGGYVWLETQGTVIYNPRNLQPQCIMCVNYVLSEIEKNDVVFSMDQTESLFKPHLMAMNSIFDSSGKGAVSEKSNFLFTKLKEEPEELAQLAPTPGDAIISLDFGNQNFEESSAYGKAILPPSQPWATELRSHSTQSEAGSLPAFTVPQAAAPGSTTPSATSSSSSCSTPNSPEDYYTSLDNDLKIEVIEKLFAMDTEAKDQCSTQTDFNELDLETLAPYIPMDGEDFQLSPICPEERLLAENPQSTPQHCFSAMTNIFQPLAPVAPHSPFLLDKFQQQLESKKTEPEHRPMSSIFFDAGSKASLPPCCGQASTPLSSMGGRSNTQWPPDPPLHFGPTKWAVGDQRTEFLGAAPLGPPVSPPHVSTFKTRSAKGFGARGPDVLSPAMVALSNKLKLKRQLEYEEQAFQDLSGGDPPGGSTSHLMWKRMKNLRGGSCPLMPDKPLSANVPNDKFTQNPMRGLGHPLRHLPLPQPPSAISPGENSKSRFPPQCYATQYQDYSLSSAHKVSGMASRLLGPSFESYLLPELTRYDCEVNVPVLGSSTLLQGGDLLRALDQAT | |
| 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 |
|---|---|---|---|---|---|
| 10 | Phosphorylation | ADKEKKRSSSERRKE CHHHHHCCHHHHHHH | 47.28 | - | |
| 11 | Phosphorylation | DKEKKRSSSERRKEK HHHHHCCHHHHHHHH | 40.01 | - | |
| 12 | Phosphorylation | KEKKRSSSERRKEKS HHHHCCHHHHHHHHH | 36.05 | - | |
| 55 | Phosphorylation | SSHLDKASIMRLAIS HHHCCHHHHHHHHHH | 23.74 | 24719451 | |
| 148 | Phosphorylation | EEIRENLSLKNGSGF HHHHHHHCCCCCCCC | 49.21 | 24719451 | |
| 150 | Ubiquitination | IRENLSLKNGSGFGK HHHHHCCCCCCCCCC | 56.75 | - | |
| 164 | Phosphorylation | KKSKDMSTERDFFMR CCCCCCCCHHHHHHH | 28.53 | 22964224 | |
| 182 | Phosphorylation | TVTNRGRTVNLKSAT EEECCCCEEECCCCE | 19.30 | - | |
| 186 | Acetylation | RGRTVNLKSATWKVL CCCEEECCCCEEEEE | 32.61 | 19815709 | |
| 186 | Ubiquitination | RGRTVNLKSATWKVL CCCEEECCCCEEEEE | 32.61 | - | |
| 191 | Acetylation | NLKSATWKVLHCTGQ ECCCCEEEEEEECCE | 30.48 | 19815717 | |
| 191 | Ubiquitination | NLKSATWKVLHCTGQ ECCCCEEEEEEECCE | 30.48 | - | |
| 202 | Phosphorylation | CTGQVKVYNNCPPHN ECCEEEEECCCCCCC | 8.57 | 23663014 | |
| 210 | Phosphorylation | NNCPPHNSLCGYKEP CCCCCCCCCCCCCHH | 23.23 | 23663014 | |
| 214 | Phosphorylation | PHNSLCGYKEPLLSC CCCCCCCCCHHHHHH | 15.92 | 23663014 | |
| 253 | Ubiquitination | SRHSMDMKFTYCDDR HHHCCCCEEEEECHH | 30.23 | - | |
| 291 | Ubiquitination | LDSENMTKSHQNLCT HCCCCCCHHHHHCCH | 34.86 | - | |
| 299 | Ubiquitination | SHQNLCTKGQVVSGQ HHHHCCHHHCCCCHH | 46.48 | - | |
| 307 | Phosphorylation | GQVVSGQYRMLAKHG HCCCCHHHHHHHHCC | 11.08 | 22817900 | |
| 324 | Phosphorylation | VWLETQGTVIYNPRN EEEEECCEEEECCCC | 8.23 | 17024177 | |
| 361 | Phosphorylation | FSMDQTESLFKPHLM EECCCCHHHHHHHHH | 42.36 | 24719451 | |
| 383 | Phosphorylation | SSGKGAVSEKSNFLF CCCCCCCCCHHCCCE | 38.48 | - | |
| 385 | Acetylation | GKGAVSEKSNFLFTK CCCCCCCHHCCCEEE | 43.10 | 19498162 | |
| 385 | Ubiquitination | GKGAVSEKSNFLFTK CCCCCCCHHCCCEEE | 43.10 | 21906983 | |
| 392 | Ubiquitination | KSNFLFTKLKEEPEE HHCCCEEECCCCHHH | 50.67 | 21906983 | |
| 394 | Sumoylation | NFLFTKLKEEPEELA CCCEEECCCCHHHHH | 62.68 | - | |
| 394 | Sumoylation | NFLFTKLKEEPEELA CCCEEECCCCHHHHH | 62.68 | - | |
| 405 | Hydroxylation | EELAQLAPTPGDAII HHHHHHCCCCCCEEE | 47.95 | - | |
| 497 | Ubiquitination | TSLDNDLKIEVIEKL HHCCCCHHHHHHHHH | 39.42 | 16862177 | |
| 503 | Ubiquitination | LKIEVIEKLFAMDTE HHHHHHHHHHCCCHH | 37.47 | 21906983 | |
| 512 | Ubiquitination | FAMDTEAKDQCSTQT HCCCHHHHHHCCCCC | 41.94 | 1686217 | |
| 528 | Phosphorylation | FNELDLETLAPYIPM CCCCCHHHHCCCCCC | 35.20 | - | |
| 531 | Hydroxylation | LDLETLAPYIPMDGE CCHHHHCCCCCCCCC | 30.60 | - | |
| 595 | Ubiquitination | FQQQLESKKTEPEHR HHHHHHCCCCCCCCC | 55.10 | - | |
| 659 | Phosphorylation | WAVGDQRTEFLGAAP EECCCCCCCCCCCCC | 26.00 | 23312004 | |
| 672 | Phosphorylation | APLGPPVSPPHVSTF CCCCCCCCCCCCCCC | 38.19 | 28857561 | |
| 677 | Phosphorylation | PVSPPHVSTFKTRSA CCCCCCCCCCCCCCC | 25.70 | 28857561 | |
| 678 | Phosphorylation | VSPPHVSTFKTRSAK CCCCCCCCCCCCCCC | 28.23 | 28857561 | |
| 683 | Phosphorylation | VSTFKTRSAKGFGAR CCCCCCCCCCCCCCC | 39.29 | 22210691 | |
| 685 | Acetylation | TFKTRSAKGFGARGP CCCCCCCCCCCCCCC | 56.89 | 19498162 | |
| 685 | Ubiquitination | TFKTRSAKGFGARGP CCCCCCCCCCCCCCC | 56.89 | - | |
| 696 | Phosphorylation | ARGPDVLSPAMVALS CCCCCCCCHHHHHHH | 15.51 | 22210691 | |
| 703 | Phosphorylation | SPAMVALSNKLKLKR CHHHHHHHHHHHHHH | 23.37 | 22210691 | |
| 741 | Acetylation | HLMWKRMKNLRGGSC HHHHHHHCCCCCCCC | 57.79 | 19498162 | |
| 747 | Phosphorylation | MKNLRGGSCPLMPDK HCCCCCCCCCCCCCC | 18.52 | 28258704 | |
| 757 | Phosphorylation | LMPDKPLSANVPNDK CCCCCCCCCCCCCCC | 26.73 | 28258704 | |
| 766 | Phosphorylation | NVPNDKFTQNPMRGL CCCCCCCCCCCCCCC | 32.93 | 29978859 | |
| 795 | Phosphorylation | AISPGENSKSRFPPQ CCCCCCCCCCCCCCC | 27.92 | 28787133 | |
| 830 | Phosphorylation | ASRLLGPSFESYLLP HHHHHCCCHHHHHHH | 39.59 | 28348404 | |
| 840 | Phosphorylation | SYLLPELTRYDCEVN HHHHHHHHCCCCEEC | 26.06 | - | |
| 847 | Hydroxylation | TRYDCEVNVPVLGSS HCCCCEECCCEECCC | 15.30 | - |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
| 324 | T | Phosphorylation | Kinase | PDPK1 | O15530 | GPS |
| 383 | S | Phosphorylation | Kinase | CSNK1D | P48730 | GPS |
| 528 | T | Phosphorylation | Kinase | CSNK1D | P48730 | GPS |
| 672 | S | Phosphorylation | Kinase | ERK2 | P28482 | PSP |
| 672 | S | Phosphorylation | Kinase | ERK1 | P27361 | PSP |
| - | K | Ubiquitination | E3 ubiquitin ligase | VHL | P40337 | PMID:12114475 |
| - | K | Ubiquitination | E3 ubiquitin ligase | RNF4 | P78317 | PMID:22199232 |
| Modified Location | Modified Residue | Modification | Function | Reference |
|---|---|---|---|---|
| 405 | P | Hydroxylation |
| - |
| 531 | P | Hydroxylation |
| - |
| 847 | N | Hydroxylation |
| - |
* 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 EPAS1_HUMAN !! | ||||||
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| There are no disease associations of PTM sites. | ||||||
| OMIM Disease | ||||||
| 611783 | Erythrocytosis, familial, 4 (ECYT4) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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