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FLASH GENE
Symbol UBR4 contributors: mct/npt - updated : 05-05-2015
HGNC name ubiquitin protein ligase E3 component n-recognin 4
HGNC id 30313
Corresponding disease
EA8 episodic ataxia, type 8
Location 1p36.13      Physical location : 19.401.001 - 19.536.746
Synonym name
  • retinoblastoma-associated factor 600
  • retinoblastoma-associated factor 600-like protein
  • zinc finger, UBR1 type 1
  • N-recognin-4
  • Synonym symbol(s) KIAA0462, KIAA1307, RBAF600, ZUBR1, FLJ41863, RP5-1126H10.1, p600
    EC.number 6.3.2.-
    DNA
    TYPE functioning gene
    STRUCTURE 135.81 kb     107 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    107 - 15882 570 5183 - Nakatani (2005)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  moderately
     stomach   moderately
    Lymphoid/Immunethymus   highly
    Nervousbrainbasal nucleicaudate nucleus highly Homo sapiens
     brainhindbraincerebellum moderately
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one UBR1-type zinc finger, 70-AAs UBR box functioning as a common structural element essential for binding to all known destabilizing N-terminal residues (Tasaki 2009)
  • HOMOLOGY
    Homologene
    FAMILY
  • ZUBR1 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • having an ubiquitin-protein ligase activity
  • regulates cellular pathways that contribute to anchorage-independent growth and cellular transformation (Huh 2005)
  • plays an important role in mammalian development, such as angiogenesis in the yolk sac (YS), in part through regulation of bulk degradation by lysosomal hydrolases
  • dual function of UBR4 in selective proteolysis by the proteasome and bulk degradation by the lysosome
  • plays likely a dual role in selective degradation of short-lived proteins via the proteasome and bulk degradation of cellular materials via the lysosome
  • counteracts likely specific Ca(2+)-induced death pathways through regulation of Ca(2+) homeostasis and signaling
  • regulates spindle orientation in apical neural progenitors and contributes to neurogenesis in the developing neocortex
  • multifunctional protein with roles in anoikis, viral transformation and protein degradation
  • CELLULAR PROCESS protein, ubiquitin dependent proteolysis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts directly with the neurogenic protein NDEL1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EA8
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Ubr4-deficient mice die during embryogenesis and exhibit pleiotropic abnormalities, including impaired vascular development in the yolk sac (YS)