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FLASH GENE
Symbol RIPK4 contributors: mct - updated : 25-01-2012
HGNC name receptor-interacting serine-threonine kinase 4
HGNC id 496
Corresponding disease
PPS2 popliteal pterygium syndrome 2
Location 21q22.3      Physical location : 43.159.528 - 43.187.249
Synonym name
  • PKC-delta-interacting protein kinase
  • ankyrin repeat domain 3
  • Receptor interacting protein 4
  • protein kinase C-associated kinase
  • Synonym symbol(s) DIK, PKK, RIP4, ANKK2, ANKRD3
    EC.number 2.7.11.1
    DNA
    TYPE functioning gene
    STRUCTURE 27.72 kb     8 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 3890 - 784 - 2000 10948194
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Reproductivefemale systembreastmammary gland  
    Respiratoryrespiratory tractlarynx   
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal, twelve subdomains conserved in all protein kinases, serine/threonine kinase domain
  • catalytic kinase domain
  • a potential nuclear localization signal (NLS)
  • C-terminal putative regulatory domain containing eleven ankyrin repeats
  • HOMOLOGY
    interspecies ortholog to murine Ripk4
    intraspecies homolog to DAP
    Homologene
    FAMILY
  • serine/threonine family of protein kinase
  • receptor-interacting protein (RIP) kinase family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • protein serine/threonine kinase activity
  • may function in both a kinase-dependent as well as a kinase-independent manner to activate NFkappaB
  • crucial modulator of epidermal differentiation, and important and unique functions in keratinocytes of normal and wounded skin
  • potentially functioning in the epidermis through PKC-specific signaling pathways to regulate differentiation and inflammation
  • important regulator of epidermal morphogenesis during embryonic development
  • RIPK4 requires IKBKB for the induction of the canonical NFKB pathway
  • RIPK4 and CHUK might function via closely related pathways to promote keratinocyte differentiation and epithelial growth
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP binding
    protein
  • PRKCD
  • interacts with protein kinase C (PKC) isoforms and is implicated in PKC-dependent signaling pathways
  • interacting with BIRC2 (Lys51 and Lys145 of RIPK4 are two critical AAs for BIRC2-mediated ubiquitination and NFKB activation)
  • direct transcriptional target of the protein TP63, a master regulator of stratified epithelial development, which acts as a nodal point in the cascade of molecular events that prevent pterygium syndromes
  • cell & other
    REGULATION
    Other its expression is regulated in a complex manner, which might have therapeutic implications
    ASSOCIATED DISORDERS
    corresponding disease(s) PPS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in cutaneous wound repair, which might be initiated by a broad variety of growth factors and cytokines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Ripk4-null mice exhibiting severe epidermal adhesions that phenocopy Bartsocas-Papas syndrome