| Gene Symbol |
Aph1a
|
| Entrez Gene |
226548
|
| Alt Symbol |
6530402N02Rik, APH-1a
|
| Species |
Mouse
|
| Gene Type |
protein-coding
|
| Description |
anterior pharynx defective 1a homolog (C. elegans)
|
| Other Description |
aph-1alpha|gamma-secretase subunit APH-1A
|
| Swissprots |
Q8BVF7 Q8R1T3 Q91VL5
|
| Accessions |
EDL38851 EDL38853 Q8BVF7 AK050828 AK078343 BAC37228 AK148400 BAE28531 AK152334 BAE31132 AK177784 AK178736 AK181631 AK181860 AK182589 AK189692 AK189810 AK190617 AK190873 AK195745 AK197207 AK197636 AK197667 AK202378 AK204454 AK206190 AK213745 AK215415 AK216088 AK217389 AK218564 AX775953 CAE11676 BC012406 AAH12406 BC024111 AAH24111 BC057865 AAH57865 BY264531 CX207467 XM_006501312 XP_006501375 NM_146104 NP_666216 NM_146134 NP_666246
|
| Function |
Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex (By similarity). {ECO:0000250}.
|
| Subcellular Location |
Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Golgi apparatus, cis-Golgi network membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi. {ECO:0000250}.
|
| Top Pathways |
Notch signaling pathway, Alzheimer's disease
|