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Literature summary for 7.2.2.10 extracted from
- Distinct types of abnormality in kinetic properties of three Darier disease-causing sarco(endo)plasmic reticulum Ca2+-ATPase mutants that exhibit normal expression and high Ca2+ transport activity (2004), J. Biol. Chem., 279, 35595-35603.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| wild-type and mutant enzymes are transfected in COS-1 cells | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| I274V | Darier disease causing, 64% activity in comparison to wild-type enzyme | Homo sapiens |
| L321F | Darier disease causing mutant, the mutant has the dramatically reduced sensitivity to the feedback inhibition by the accumulated lumenal Ca2+, the insensitivity to luminal Ca2+ raises this ion to an abnormally elevated level, 100% activity in comparison to wild-type enzyme | Homo sapiens |
| M719I | Darier disease causing, 69% activity in comparison to wild-type enzyme | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| SERCA2b | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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