| UniProt ID | VHL_HUMAN | |
|---|---|---|
| UniProt AC | P40337 | |
| Protein Name | von Hippel-Lindau disease tumor suppressor | |
| Gene Name | VHL | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 213 | |
| Subcellular Localization |
Isoform 1: Cytoplasm. Membrane Peripheral membrane protein. Nucleus. Found predominantly in the cytoplasm and with less amounts nuclear or membrane-associated. Colocalizes with ADRB2 at the cell membrane. Isoform 3: Cytoplasm. Nucleus. Equally |
|
| Protein Description | Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2.. | |
| Protein Sequence | MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPRPVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFRDAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDIVRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD | |
| 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 |
|---|---|---|---|---|---|
| 33 | Phosphorylation | EEDGGEESGAEESGP CCCCCCCCCCCCCCC | 38.71 | 22817900 | |
| 38 | Phosphorylation | EESGAEESGPEESGP CCCCCCCCCCCCCCC | 51.67 | 22817900 | |
| 43 | Phosphorylation | EESGPEESGPEELGA CCCCCCCCCCCCCCH | 58.97 | 22817900 | |
| 65 | Phosphorylation | RPRPVLRSVNSREPS CCCCCCCCCCCCCCC | 22.84 | 28450419 | |
| 68 | Phosphorylation | PVLRSVNSREPSQVI CCCCCCCCCCCCEEE | 35.55 | 28450419 | |
| 72 | Phosphorylation | SVNSREPSQVIFCNR CCCCCCCCEEEEECC | 32.12 | 28450419 | |
| 79 | Methylation | SQVIFCNRSPRVVLP CEEEEECCCCCEEEE | 49.58 | 80702285 | |
| 80 | Phosphorylation | QVIFCNRSPRVVLPV EEEEECCCCCEEEEE | 11.76 | 27251275 | |
| 100 | Phosphorylation | GEPQPYPTLPPGTGR CCCCCCCCCCCCCCC | 46.16 | - | |
| 105 | Phosphorylation | YPTLPPGTGRRIHSY CCCCCCCCCCEECEE | 33.03 | - | |
| 111 | Phosphorylation | GTGRRIHSYRGHLWL CCCCEECEECCCEEE | 17.72 | 22071692 | |
| 112 | Phosphorylation | TGRRIHSYRGHLWLF CCCEECEECCCEEEE | 13.37 | - | |
| 143 (in isoform 3) | Ubiquitination | - | 49.27 | 21890473 | |
| 155 (in isoform 2) | Ubiquitination | - | 6.84 | 21890473 | |
| 159 | Neddylation | TLPVYTLKERCLQVV EEEEEEHHHHHHHHH | 35.00 | - | |
| 159 | Ubiquitination | TLPVYTLKERCLQVV EEEEEEHHHHHHHHH | 35.00 | - | |
| 168 | Phosphorylation | RCLQVVRSLVKPENY HHHHHHHHHCCHHHH | 26.38 | - | |
| 171 | Sumoylation | QVVRSLVKPENYRRL HHHHHHCCHHHHHHH | 52.48 | - | |
| 171 | Ubiquitination | QVVRSLVKPENYRRL HHHHHHCCHHHHHHH | 52.48 | - | |
| 171 | Sumoylation | QVVRSLVKPENYRRL HHHHHHCCHHHHHHH | 52.48 | - | |
| 171 | Neddylation | QVVRSLVKPENYRRL HHHHHHCCHHHHHHH | 52.48 | - | |
| 175 | Phosphorylation | SLVKPENYRRLDIVR HHCCHHHHHHHHHHH | 8.75 | 29496907 | |
| 183 | Phosphorylation | RRLDIVRSLYEDLED HHHHHHHHHHHHHHH | 25.14 | - | |
| 185 | Phosphorylation | LDIVRSLYEDLEDHP HHHHHHHHHHHHHCC | 14.51 | 28796482 | |
| 196 | Ubiquitination | EDHPNVQKDLERLTQ HHCCCHHHHHHHHHH | 61.06 | 21890473 | |
| 196 | Neddylation | EDHPNVQKDLERLTQ HHCCCHHHHHHHHHH | 61.06 | - | |
| 196 (in isoform 1) | Ubiquitination | - | 61.06 | 21890473 | |
| 202 | Phosphorylation | QKDLERLTQERIAHQ HHHHHHHHHHHHHHH | 34.31 | - |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
| 33 | S | Phosphorylation | Kinase | CSNK2A1 | P68400 | GPS |
| 38 | S | Phosphorylation | Kinase | CSNK2A1 | P68400 | GPS |
| 43 | S | Phosphorylation | Kinase | CSNK2A1 | P68400 | GPS |
| 68 | S | Phosphorylation | Kinase | GSK3B | G1T8E2 | PSP |
| 68 | S | Phosphorylation | Kinase | GSK3B | P49841 | PSP |
| 72 | S | Phosphorylation | Kinase | AURKA | O14965 | GPS |
| 72 | S | Phosphorylation | Kinase | CSNK1A1 | P48729 | GPS |
| 100 | T | Phosphorylation | Kinase | NEK1 | Q96PY6 | PSP |
| 105 | T | Phosphorylation | Kinase | NEK1 | Q96PY6 | PSP |
| 111 | S | Phosphorylation | Kinase | CHEK2 | O96017 | GPS |
| 112 | Y | Phosphorylation | Kinase | NEK1 | Q96PY6 | PSP |
| 168 | S | Phosphorylation | Kinase | NEK1 | Q96PY6 | PSP |
| 175 | Y | Phosphorylation | Kinase | NEK1 | Q96PY6 | PSP |
| 183 | S | Phosphorylation | Kinase | NEK1 | Q96PY6 | PSP |
| 202 | T | Phosphorylation | Kinase | NEK1 | Q96PY6 | PSP |
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of VHL_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 VHL_HUMAN !! | ||||||
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| H00021 | Renal cell carcinoma | |||||
| H00236 | Congenital polycythemia; Familial erythrocytosis (ECYT) | |||||
| H00559 | von Hippel-Lindau syndrome | |||||
| OMIM Disease | ||||||
| 171300 | Pheochromocytoma (PCC) | |||||
| 193300 | von Hippel-Lindau disease (VHLD) | |||||
| 263400 | Erythrocytosis, familial, 2 (ECYT2) | |||||
| 144700 | Renal cell carcinoma (RCC) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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