MAPKBP1

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.

Full Name

MITOGEN-ACTIVATED PROTEIN KINASE BINDING PROTEIN 1

Function

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).

Biological Process

Negative regulation of defense response to bacteriumManual Assertion Based On ExperimentIMP:UniProtKB
Negative regulation of I-kappaB kinase/NF-kappaB signalingManual Assertion Based On ExperimentIMP:UniProtKB
Negative regulation of interleukin-8 productionManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Cytoplasm
Nucleus
Cytoplasm, cytoskeleton, spindle pole
Not detected in the cilium. Localized around the poles of the mitotic spindle from prophase to anaphase in mitotic cells.

Involvement in disease

Nephronophthisis 20 (NPHP20):
A form of nephronophthisis, an autosomal recessive chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis. NPHP20 patients do not show extrarenal manifestations or evidence of a ciliopathy, such as situs inversus or polydactyly.