| Gene Symbol |
APH1A
|
| Entrez Gene |
51107
|
| Alt Symbol |
6530402N02Rik, APH-1, APH-1A, CGI-78
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
APH1A gamma secretase subunit
|
| Other Description |
anterior pharynx defective 1 homolog A|aph-1alpha|gamma-secretase subunit APH-1A|presenilin-stabilization factor
|
| Swissprots |
Q9Y386 Q9BVG0 B4DQK0 Q96BI3 Q5TB23 Q969R6 Q5TB22
|
| Accessions |
CAF86638 CAI22811 CAI22812 CAI22813 EAW53565 EAW53566 EAW53567 Q96BI3 AF151835 AAD34072 AF508787 AAN63816 AK027879 BAG51389 AK075295 BAC11529 AK075452 BAG52142 AK125685 AK297680 BAG60040 AK298832 BAG60962 AK298876 BAG60993 AK300640 BAG62329 AK307358 AK314490 AX775955 CAE11677 AX775957 CAE11678 AY113698 AAM61955 AY113699 AAM61956 AY358951 AAQ89310 BC001230 AAH01230 BC008732 AAH08732 BC009501 AAH09501 BC015568 AAH15568 BC017699 AAH17699 BC020590 AAH20590 BC068606 BI760743 DA589586 DC365601 HQ447145 ADQ31632 JF432669 ADZ15886 JF432870 ADZ16087 XM_006711362 XP_006711425 NM_001077628 NP_001071096 NM_001243771 NP_001230700 NM_001243772 NP_001230701 NM_016022 NP_057106 NR_045033 NR_045034 NR_045035
|
| 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. {ECO:0000269|PubMed:12297508, ECO:0000269|PubMed:12522139, ECO:0000269|PubMed:12763021}.
|
| Subcellular Location |
Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus, Golgi stack membrane; Multi- pass membrane protein. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi.
|
| Tissue Specificity |
Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain. Isoform 1 and isoform 2 are nearly expressed at the same level. {ECO:0000269|PubMed:12110170}.
|
| Top Pathways |
Notch signaling pathway, Alzheimer's disease
|
![Western Blot: APH1a Overexpression Lysate (Adult Normal) [NBP2-08465] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for APH1a.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_1/14723_APH1a%2520Overexpression%2520Lysate%2520%2528Adult%2520Normal%2529-Western%2520Blot-NBP2-08465-img0001.jpg)
![Western Blot: APH1a Overexpression Lysate (Adult Normal) [NBP2-04350] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for APH1a.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/8174_APH1a%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBP2-04350-img0001.jpg)