sorting nexin-3; protein SDP3 (SNX3)

Function

• phosphoinositide-binding protein required for multivesicular body formation
• specifically binds phosphatidylinositol-3,4,5-trisphosphate (Ptdins(3,4,5)P3)
• not involved in EGFR degradation
• ubiquitinated; deubiquitinated by USP10
• interacts with USP10

Structure

• the PX domain mediates specific binding to phosphatidylinositol-3,4,5-trisphosphate (Ptdins(3,4,5)P3)
• belongs to the sorting nexin family
• contains 1 PX (phox homology) domain

Compartment

early endosome

Alternative splicing

named isoforms=4

Pathology

• chromosomal translocation t(6;13)(q21;q12) involving SNX3 may be a cause of microphthalmia syndromic type 8

More general terms

• sorting nexin
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8724
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8724
• OMIM: https://mirror.omim.org/entry/601349
• OMIM: https://mirror.omim.org/entry/605930
• UniProt: http://www.uniprot.org/uniprot/O60493.html