UniProt ID: Q8JHF0 |
FUNCTION: Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid- beta precursor protein). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins. {ECO:0000250|UniProtKB:Q9NZ42}. SUBUNIT: The functional gamma-secretase complex is composed of at least four polypeptides: a presenilin homodimer (psen1 or psen2), nicastrin (ncstn), aph1 (aph1a or aph1b) and psenen. {ECO:0000250|UniProtKB:Q9NZ42}. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9NZ42}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9NZ42}. Golgi apparatus, Golgi stack membrane {ECO:0000250|UniProtKB:Q9NZ42}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9NZ42}. Cell membrane {ECO:0000250|UniProtKB:Q9NZ42}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9NZ42}. Membrane {ECO:0000250|UniProtKB:Q9NZ42}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9NZ42}. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi. {ECO:0000250|UniProtKB:Q9NZ42}. SIMILARITY: Belongs to the PEN-2 family. {ECO:0000305}. CAUTION: 3D-structure analysis of the human homolog indicates that the membrane topology differs from the predictions. Contrary to predictions, the N-terminus contains two short helices that dip into the membrane, but do not cross it. The C-terminus contains the single transmembrane helix. This gives rise to a topology where the N-terminus is cytoplasmic and the C-terminus is lumenal. {ECO:0000305}. |
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