| Gene Information | |
|---|---|
| Gene Name | UNQ1874/PRO4317 |
| Organism | Homo sapiens (Human) |
| Gene Length | 709 |
| Protein Names | Nicastrin |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q92542 |
| Gene Card | NCSTN |
| Uniprot ID | Q92542 |
| Pfam | PF18266 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Detected in brain (at protein level) (PubMed:10993067). Widely expressed (PubMed:11396676). {ECO:0000269|PubMed:10993067, ECO:0000269|PubMed:11396676}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.275454(Rat);0.305744(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 2N7Q (NMR - ) 2N7R (NMR - ) 4UIS (EM 4.40A ) 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 | rs12045198 rs35603924 |
| Subcellular location [CC] | Membrane {ECO:0000269|PubMed:10993067, ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:25918421, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517, ECO:0000269|PubMed:26776682}; Single-pass type I membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:25918421, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:10993067}; Single-pass type I membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:25918421, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874}. Melanosome {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. |
| Mouse PG classification | NA |
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