Aliases for COL4A3BP Gene
External Ids for COL4A3BP Gene
Previous GeneCards Identifiers for COL4A3BP Gene
This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for COL4A3BP Gene
COL4A3BP (Collagen Type IV Alpha 3 Binding Protein) is a Protein Coding gene. Diseases associated with COL4A3BP include Mental Retardation, Autosomal Dominant 34 and Goodpasture Syndrome. Among its related pathways are Sphingolipid metabolism and Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF). GO annotations related to this gene include protein kinase activity and kinase activity. An important paralog of this gene is PLEKHA8.
UniProtKB/Swiss-Prot for COL4A3BP Gene
Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner.