| Gene Information | |
|---|---|
| Gene Name | UNQ579/PRO1141 |
| Organism | Homo sapiens (Human) |
| Gene Length | 265 |
| Protein Names | Gamma-secretase subunit APH-1A (APH-1a) (Aph-1alpha) (Presenilin-stabilization factor) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q96BI3 |
| Gene Card | APH1A |
| Uniprot ID | Q96BI3 |
| Pfam | PF06105 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| 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}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.277883(Rat);0.372410(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5A63 (EM 3.40A ) 5FN2 (EM 4.20A ) 5FN3 (EM 4.10A ) 5FN4 (EM 4.00A ) 5FN5 (EM 4.30A ) 6IDF (EM 2.70A ) 6IYC (EM 2.60A ) 6LQG (EM 3.10A ) 6LR4 (EM 3.00A ) 7C9I (EM 3.10A ) 7D8X (EM 2.60A ) |
| DBSNP | NA |
| Subcellular location [CC] | Endoplasmic reticulum membrane {ECO:0000269|PubMed:12522139}; Multi-pass membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874}. Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:12522139}; Multi-pass membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874}. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi. {ECO:0000269|PubMed:12522139}. |
| Mouse PG classification | NA |
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