| Accession | Acc. Gene-, Name | Start | End | Subsequence | Logic | PDB | Organism | Length |
|---|---|---|---|---|---|---|---|---|
| ELMI001225 | Q99814 EPAS1 EPAS1_HUMAN |
529 | 542 | LETLAPYIPMDGEDFQLSPI | TP | --- | Homo sapiens (Human) | 870 |
Instance evidence
| Evidence class | PSI-MI | Method | BioSource | PubMed | Logic | Reliability | Notes |
|---|---|---|---|---|---|---|---|
| experimental | MI:0074 | mutation analysis | in vivo/in vitro | Kondo,2003 | support | certain | FeatureDetection |
Switches
This ELM instance is part of the following 1 switching mechanism annotated at the switches.ELM resource:
-
SWTI000025:
Hydroxylation of P531 in the VHL-binding motif of Endothelial PAS domain-containing protein 1 (EPAS1) induces binding to the Von Hippel-Lindau disease tumor suppressor (VHL) protein.
Pathways
Diseases
- Sequence Variation VAR_067360 (Pos 535) has been implicated in Erythrocytosis, Familial, 4; Ecyt4 (OMIM:611783).
- Sequence Variation VAR_067361 (Pos 537) has been implicated in Erythrocytosis, Familial, 4; Ecyt4 (OMIM:611783).
- Sequence Variation VAR_067359 (Pos 535) has been implicated in Erythrocytosis, Familial, 4; Ecyt4 (OMIM:611783).
- Sequence Variation VAR_067358 (Pos 534) has been implicated in Erythrocytosis, Familial, 4; Ecyt4 (OMIM:611783).
- Sequence Variation VAR_042443 (Pos 537) has been implicated in Erythrocytosis, Familial, 4; Ecyt4 (OMIM:611783).
- Sequence Variation VAR_067362 (Pos 540) has been implicated in Erythrocytosis, Familial, 4; Ecyt4 (OMIM:611783).
Please cite:
The Eukaryotic Linear Motif resource: 2022 release.
(PMID:34718738)
ELM data can be downloaded & distributed for non-commercial use according to the ELM Software License Agreement
ELM data can be downloaded & distributed for non-commercial use according to the ELM Software License Agreement