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. Diseases associated with RBSN include Neutropenia, Severe Congenital, 5, Autosomal Recessive and Alzheimer Disease 6. Among its related pathways are Innate Immune System and Endocytosis. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding.
UniProtKB/Swiss-Prot Summary 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).