MAPKBP1, Official Symbol MAPKBP1provided by HGNC Official Full Name mitogen-activated protein kinase binding protein 1provided by HGNC Primary source HGNC:HGNC:29536 See related Ensembl:ENSG00000137802 MIM:616786; AllianceGenome:HGNC:29536 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JNKBP1; NPHP20; JNKBP-1 Summary 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] Expression Broad expression in testis (RPKM 16.2), skin (RPKM 11.0) and 23 other tissues See more Orthologs mouse all