Aliases for RUFY1 Gene
External Ids for RUFY1 Gene
Previous GeneCards Identifiers for RUFY1 Gene
This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
GeneCards Summary for RUFY1 Gene
RUFY1 (RUN And FYVE Domain Containing 1) is a Protein Coding gene. Diseases associated with RUFY1 include Gerstmann Syndrome. Among its related pathways are PI Metabolism and Endocytosis. Gene Ontology (GO) annotations related to this gene include lipid binding and protein transporter activity. An important paralog of this gene is RUFY2.
UniProtKB/Swiss-Prot Summary for RUFY1 Gene
Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in early endosomal trafficking.