COL4A3BP Immunizing Blocking Peptide

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]

COL4A3BP: a protein with a lipid-binding domain that mediates intracellular trafficking of ceramide in a non-vesicular manner. Implicated in human autoimmune diseases via its association with the Goodpasture antigen. Phosphorylation on Ser-132 decreases the affinity toward phosphatidylinositol 4-phosphate at Golgi membranes and reduces ceramide transfer activity. GPBP has been reported to have Ser/Thr protein kinase activity towards the Goodpasture (GP) antigen, but lacks a conventional serine/threonine kinase domain. Two human isoforms of the human protein are produced by alternative splicing.

Protein type: Kinase, protein; Protein kinase, Ser/Thr (non-receptor); Protein kinase, atypical; Lipid-binding; EC 2.7.11.9; ATYPICAL group; COL4A3BP family

Chromosomal Location of Human Ortholog: 5q13.3

Cellular Component: cytosol; endoplasmic reticulum membrane; Golgi apparatus; mitochondrion; nucleoplasm; perinuclear region of cytoplasm

Molecular Function: protein binding; protein kinase activity

Biological Process: cell morphogenesis; cell proliferation; ceramide metabolic process; endoplasmic reticulum organization and biogenesis; heart morphogenesis; immune response; in utero embryonic development; lipid homeostasis; muscle contraction; protein amino acid phosphorylation; signal transduction; sphingolipid biosynthetic process

Disease: Mental Retardation, Autosomal Dominant 34