Aliases for RBSN Gene
External Ids for RBSN Gene
Previous HGNC Symbols for RBSN Gene
This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endocytic pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
GeneCards Summary for RBSN Gene
RBSN (Rabenosyn, RAB Effector) is a Protein Coding gene. Among its related pathways are Delta508-CFTR traffic / Sorting endosome formation in CF and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding.
UniProtKB/Swiss-Prot for RBSN Gene
Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking of CTSD/cathepsin D from the Golgi to lysosomes. Also promotes the recycling of transferrin directly from early endosomes to the plasma membrane. Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate (PtdInsP3) (PubMed:11062261, PubMed:11788822, PubMed:15020713). Plays a role in the recycling of transferrin receptor to the plasma membrane (PubMed:22308388).