The Eukaryotic Linear Motif resource for
Functional Sites in Proteins

o  Instance

Accession Acc. Gene-, NameStartEndSubsequenceLogic PDB OrganismLength
ELMI001225 Q99814 EPAS1
EPAS1_HUMAN
529 542 LETLAPYIPMDGEDFQLSPI TP --- Homo sapiens (Human) 870

o  Instance evidence

Evidence classPSI-MIMethodBioSourcePubMedLogicReliabilityNotes
experimental MI:0074 mutation analysis in vivo/in vitro Kondo,2003 support certain FeatureDetection

o  Switches



This ELM instance is part of the following 1 switching mechanism annotated at the switches.ELM resource:

o  Pathways

The sequence Q99814 is implicated in the following 2 Pathways: (color codes: This sequence=red, interacting sequence=orange)

o  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: ELM 2016-data update and new functionality of the eukaryotic linear motif resource. (PMID:26615199)

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