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. [provided by RefSeq, May 2017]

Description

mitogen-activated protein kinase binding protein 1

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

15:q15.1 (41774434 - 41827855)

Ensembl ID

ENSG00000137802  (ver. 99.38)

Orthologs

Mouse Mapkbp1: ENSMUSG00000033902

UniProt

O60336

neXtProt

NX_O60336

Human splice variants
Mouse splice variants