| Gene Information | |
|---|---|
| Gene Name | SAC1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 587 |
| Protein Names | Phosphatidylinositol-3-phosphatase SAC1 (EC 3.1.3.64) (Phosphatidylinositol-4-phosphate phosphatase) (Suppressor of actin mutations 1-like protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q9NTJ5 |
| Gene Card | SACM1L |
| Uniprot ID | Q9NTJ5 |
| Pfam | PF02383 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Detected in heart, brain, lung, liver, kidney, pancreas and testis. {ECO:0000269|PubMed:10048485}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.025(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs1468542 |
| Subcellular location [CC] | Endoplasmic reticulum membrane {ECO:0000269|PubMed:27044890, ECO:0000269|PubMed:29461204, ECO:0000269|PubMed:31806350}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:29461204, ECO:0000269|PubMed:31806350}. Note=Trafficking between the ER and Golgi is regulated by nutrient status and by TMEM39A (PubMed:31806350). Localizes to endoplasmic reticulum-plasma membrane contact sites (EPCS) in the presence of phosphatidylinositol-4,5-bisphosphate (PubMed:27044890). {ECO:0000269|PubMed:27044890, ECO:0000269|PubMed:31806350}. |
| Mouse PG classification | NA |
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