| Gene Information | |
|---|---|
| Gene Name | SACM1L |
| 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 | 645 ( ENSG00000211456 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q9NTJ5 |
| Gene Card | SACM1L |
| Uniprot ID | Q9NTJ5 |
| Pfam | PF02383 |
| In ASD | no |
| Allosteric Prediction | no (-0.758692175) |
| Ortholog in Animals | Alpaca_ SACM1L ( ortholog_one2one ) Dog_ SACM1L ( ortholog_one2one ) GuineaPig_ SACM1L ( ortholog_one2one ) Macaque_ SACM1L ( ortholog_one2one ) Mouse_ Sacm1l ( ortholog_one2one ) Pig_ SACM1L ( ortholog_one2one ) Rat_ Sacm1l ( ortholog_one2one ) Rabbit_ SACM1L ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | SH2D1B, SH2D1A, FIG4, INPP5E, SYNJ2, OCRL, INPP5D, INPPL1, INPP5F, INPP5J, SYNJ1, INPP5B, INPP5K |
| 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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