Aliases for MAPKBP1 Gene
External Ids for MAPKBP1 Gene
Previous GeneCards Identifiers for MAPKBP1 Gene
This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This protein may play a role in bacterial immunity by binding to the NOD2 receptor and negatively regulating downstream antibacterial and pro-inflammatory signaling. Mutations in this gene that impair cellular localization of the encoded protein cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017]
GeneCards Summary for MAPKBP1 Gene
MAPKBP1 (Mitogen-Activated Protein Kinase Binding Protein 1) is a Protein Coding gene. Diseases associated with MAPKBP1 include Nephronophthisis 20 and Late-Onset Nephronophthisis. An important paralog of this gene is WDR62.
UniProtKB/Swiss-Prot for MAPKBP1 Gene
Negative regulator of NOD2 function. It down-regulates NOD2-induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response (PubMed:22700971). Involved in JNK signaling pathway (By similarity).