| Tag | Content |
|---|---|
| Uniprot ID | O70492 |
| Entrez ID | |
| Genbank protein ID | AAC16017.1 |
| Genbank nucleotide ID | |
| Ensembl protein ID | |
| Ensembl nucleotide ID | |
| Gene name | Sorting nexin-3 |
| Gene symbol | Snx3 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 27933520 |
| Functional description | Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Also can bind phosphatidylinositol 4-phosphate (PtdIns(P4)), phosphatidylinositol 5-phosphate (PtdIns(P5)) and phosphatidylinositol 3,5-biphosphate (PtdIns(3,5)P2) (PubMed:19576982). Plays a role in protein transport between cellular compartments. Together with RAB7A facilitates endosome membrane association of the retromer cargo-selective subcomplex (CSC). May act in part as component of the SNX3-retromer complex which mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway (By similarity). Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (PubMed:18632802). Not involved in EGFR degradation. Involved in the regulation of phagocytosis in dendritic cells possibly by regulating EEA1 recruitment to the nascent phagosomes (By similarity). Involved in iron homeostasis through regulation of endocytic recycling of the transferrin receptor Tfrc presuambly by delivering the transferrin:transferrin receptor complex to recycling endosomes; the function may involve the CSC retromer subcomplex (PubMed:23416069). Involved in regulation of neurite outgrowth in primary neurons (PubMed:19576982). |
| Sequence | MAETVADTRR LITKPQNLND AYGPPSNFLE IDVSNPQTVG VGRGRFTTYE IRVKTNLPIF 60 KLKESTVRRR YSDFEWLRSE LERESKVVVP PLPGKAFLRH VPFRGDDGIF DDNFIEERKQ 120 GLEQFINKVA GHPLAQNERC LHMFLQDEII DKSYTPSKIR HA 162 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.