Aliases for SEC23IP Gene
External Ids for SEC23IP Gene
Previous GeneCards Identifiers for SEC23IP Gene
This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
GeneCards Summary for SEC23IP Gene
SEC23IP (SEC23 Interacting Protein) is a Protein Coding gene. Diseases associated with SEC23IP include Waardenburg's Syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is DDHD2.
UniProtKB/Swiss-Prot for SEC23IP Gene
Plays a role in the organization of endoplasmic reticulum exit sites. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P) and phosphatidylinositol 5-phosphate (PI(5)P).