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FLASH GENE
Symbol MADD contributors: mct/npt/pgu - updated : 03-04-2013
HGNC name MAP-kinase activating death domain
HGNC id 6766
Location 11p11.2      Physical location : 47.290.926 - 47.351.582
Synonym name
  • insulinoma-glucagonoma protein 20
  • differentially expressed in normal and neoplastic cells
  • Rab3 GDP/GTP exchange factor
  • Synonym symbol(s) DENN, KIAA0358, IG20, RAB3GEP, FLJ35600, FLJ36300
    DNA
    TYPE functioning gene
    STRUCTURE 60.66 kb     36 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D11S1361 - D11S1344 - EXT2 EXT2 - DDB2 - MADD - SSRP1 - SERPING1 - D11S1367 - qter
    Authors GeneMap
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    36 - 6031 183.3 1647 - 2006 16682944
    33 splicing 6020 176.6 1588 - 2006 16682944
  • variant 1 or DENN
  • lack exons 16-21-26
  • 34 splicing 5785 173.4 1565 - 2006 16682944
    lack exons 21-26 and13A
    33 splicing 5725 171.4 1545 - 2006 16682944
    lack exons 16-21-26-13A
    34 splicing 5914 178.6 1608 - 2006 16682944
  • variant 5 or IG20
  • 32 splicing 5655 164 1479 - 2006 16682944
    lack exons 16-21-26-34-13
    35 splicing 5985 175.9 1581 - 2006 16682944
    lack exon 34
    33 splicing 5875 176.5 1587 - 2006 16682944
    lack exons 16-21-26
    33 - 5713 171 1541 - 2006 16682944
    33 - 5746 171.3 1544 - 2006 16682944
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrain    
    Reproductivefemale systemovary   
     male systemtestis   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines neoplastic cells
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • serine and leucine-rich repeats
  • a RGD cellular adhesion motif
  • a leucine-zipper-like motif
  • a C terminal DEATH domain associating with the DEATH domain of TNFR1 with an alternatively spliced isoform
  • HOMOLOGY
    interspecies homolog to C.elegans AEX3
    intraspecies homolog to Map kinase-activating death domain protein
    Homologene
    FAMILY
  • MAP kinase family
  • MADD family
  • CATEGORY protooncogene , signaling , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • linking TNFR1 with MAP kinase activation and arachidonic acid release and providing further insight into the mechanisms by which TNF exerts its pleiotropic effects
  • playing an essential role in calcium mediated exocytosis and neurotransmitter release
  • sufficient and necessary for cancer cell survival
  • can play a novel and significant role in regulating cell proliferation, survival and death through alternative mRNA splicing
  • essential role in protecting cancer cells from TNF-induced apoptosis by specifically activating MAPKs th-rough Grb2 and Sos1/2 recruitment
  • its ability to resist TRAIL-induced apoptosis is dependent upon its phosphorylation by KT1
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TNFR1
  • JNK3
  • is the non-redundant RAB27A GEF in melanocytes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in Alzheimer disease
    tumoral     --over  
    in thyroid tumor tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    . loss of MADD expression does not appear to affect the survival of primary cells, it may be a suitable target to treat cancers either by expressing MADD-specific small interfering RNA or by developing small molecule MADD antagonists
    ANIMAL & CELL MODELS