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FLASH GENE
Symbol MAPKBP1 contributors: mct - updated : 14-03-2017
HGNC name mitogen-activated protein kinase binding protein 1
HGNC id 29536
Corresponding disease
NPHP20 nephronophthisis 20
Location 15q15.1      Physical location : 42.066.631 - 42.120.051
Synonym symbol(s) JNKBP-1, JNKBP1, NPHP20
DNA
TYPE functioning gene
STRUCTURE 53.42 kb     31 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
RAD51 15q15.1 RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) FLJ10579 15q14 hypothetical protein FLJ10579 GCHFR 15q15 GTP cyclohydrolase I feedback regulatory protein FLJ10634 15q14 hypothetical protein FLJ10634 ZFYVE19 15q14 zinc finger, FYVE domain containing 19 PPP1R14D 15q13.3 protein phosphatase 1, regulatory (inhibitor) subunit 14D SPINT1 15q15 serine protease inhibitor, Kunitz type 1 ARHV 15q13.3 ras homolog gene family, member V VPS18 15q14-q15 vacuolar protein sorting protein 18 DLL4 15q14 delta-like 4 (Drosophila) MGC4504 15q14 hypothetical protein MGC4504 KIAA1259 15q14 hypothetical protein MGC4504 HCP37 15q15.1 cytochrome c, somatic pseudogene LOC388116 15 similar to RIKEN cDNA 6720467C03 MGC33637 15q14 hypothetical protein MGC33637 CHP 15q13.3 hypothetical protein MGC33637 OIP5 15q14 Opa-interacting protein 5 NUSAP1 15q14 nucleolar and spindle associated protein 1 CIA30 KIAA0252 15q14 nucleolar and spindle associated protein 1 ITPKA 15q14-q21 inositol 1,4,5-trisphosphate 3-kinase A LTK 15q15.1-q15.2 leukocyte tyrosine kinase DKFZP727M111 15q14 DKFZP727M111 protein LOC283747 15q14 similar to elongation factor SIII p15 subunit TYRO3 15q15.1-q21.1 TYRO3 protein tyrosine kinase MGA 15q15 MAX gene associated MAPKBP1 15q14 likely ortholog of mouse mitogen activated protein kinase binding proten 1 PLA2G4B 15q11.2-q21.3 phospholipase A2, group IVB (cytosolic) SPTBN5 15q21 spectrin, beta, non-erythrocytic 5 EHD4 15q11.1-q15 EH-domain containing 4 FLJ45651 15q14 FLJ45651 protein LOC388117 15 LOC388117 cPLA2delta LOC255189 15q14 hypothetical protein LOC255189 VPS39 15q14-q15 vacuolar protein sorting 39 (yeast) DKFZP564G2022 15q14 DKFZP564G2022 protein GANC 15q15.1-q15.2 glucosidase, alpha; neutral C CAPN3 15q15.1-q15.3 calpain 3, (p94) ZFP106 15q14 zinc finger protein 106 homolog (mouse) SNAP23 15q14-q15.1 synaptosomal-associated protein, 23kDa FLJ36812 15q14 hypothetical protein FLJ36812 FLJ10460 15q14 hypothetical protein FLJ10460 LOC390579 15 similar to myosin regulatory light chain-like LOC388118 15 similar to kinesin-like protein STARD9 15q14 START domain containing 9 CDAN1 15q14-q15 congenital dyserythropoietic anemia, type I
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
32 - 7265 - 1514 - 1999 10471813
31 - 7247 - 1508 - 1999 10471813
30 - 6416 - 1231 - 1999 10471813
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestine     Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Digestiveepithelial cell Homo sapiens
Lymphoid/Immunedendritic cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal 12 WD-40 repeats, necessary for the interaction with NOD2
  • and a JNK-binding region located in the C-terminal region, with several predicted phosphorylation sites and putative protein-binding sequences
  • MAPKBP1 and WDR62 also share a highly conserved C-terminal coiled-coil containing region that is required for WDR62 homodimerization and some evidence indicates that it might also be involved in MAPKBP1-WDR62 heterodimerization
  • HOMOLOGY
    interspecies homolog to mouse Jnkbp1 (85 p100)
    intraspecies paralog to WDR62
    Homologene
    FAMILY
    CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus
    text
  • MAPKBP1 is recruited to mitotic spindle poles (MSPs) during the early phases of mitosis where it colocalizes with its paralog WDR62, which plays a key role at MSP
  • basic FUNCTION
  • functions to facilitate the specific and efficient activation of the JNK signaling pathways
  • potential scaffolding role for MAPKBP1 in the TRAF2-NR2C2-NF-kappaB signaling pathway
  • contributes to maintain NOD2-mediated intestinal immune homeostasis
  • play a scaffold function in JNK signaling
  • attenuates NOD2-mediated proinflammatory and antibacterial signaling
  • is also able to negatively regulate the antibacterial activity of NOD2
  • could contribute to NOD2-mediated intestinal immune homeostasis by regulating NOD2-dependent proinflammatory and antibacterial signaling
  • key transcription factor in the NFKB1 signalling pathway
  • is likely the first member of a non-ciliary gene family for NPHP that may account for non-syndromic forms of NPHP for which causative mutated genes remain largely to be identified
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • homodimerizes and heterodimerizes with WDR62
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MAPKBP1 interacted with not only NR2C2, but also with its upstream regulators, TNF-receptor associated factors 2 and 6 (TRAF2 and TRAF6)
  • through its WD-40 domain, binds to NOD2 (this interaction attenuates NOD2-mediated NFKB1 activation and IL8 secretion as well as NOD2 antibacterial activity)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHP20
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    associated with significantly shorter event-free survival and overall survival in acute myeloid leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS