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FLASH GENE
Symbol NINL contributors: mct/npt/pgu - updated : 04-09-2008
HGNC name ninein-like
HGNC id 29163
Location 20p11.21      Physical location : 25.433.337 - 25.566.153
Synonym name
  • related to mus ninein
  • ninein-like protein
    • Synonym symbol(s) FLJ11792, RP4-691N24.1, KIAA0980, dJ691N24.1, NLP
    DNA
    TYPE functioning gene
    STRUCTURE 132.82 kb     24 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 4979 - 1382 - 2009 18826961
    - - - - 1033 lung, cochlea, brain testis, retina, kidney 2009 18826961
  • interacts with USH2A isoform b and lebercilin (LCA5)
  • only 2 coiled-coil domains, and an intermediate filament
    		•
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea  
    Nervousbrain   highly
    Reproductivemale systemtestis  highly
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text liver, brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three EF-hand domains
  • four coiled-coil domains
  • specific phosphorylation sites are mapped at Ser-185, Ser-448, and Ser-585
    • HOMOLOGY
    interspecies homolog to mus ninein
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • found to localize at midbody during cytokinesis
    • basic FUNCTION
  • centrosome protein involved in microtubule nucleation, and in microtubule organisation in interphase cells
  • may play a role in ovarian carcinogenesis
  • contributes to chromosome segregation and cytokinesis
  • BRCA1-associated centrosomal protein that is required for centrosomes maturation at interphase and spindle formation in mitosis, also contributes to the accomplishment of cytokinesis
  • modulation of NINL by Aurora B might be vital to the commitment of cytokinesis and maintenance of genomic stability
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with LCA5 and USH2A isoform b
  • can be recruited by Aurora B to the midbody apparatus via their physical association at the late stage of mitosis
    • cell & other
    REGULATION
    Other expression cell cycle-dependent and regulated by APC-mediated protein degradation
    regulated by Aurora B is critical for the completion of cytokinesis, providing novel insights into understanding the machinery of cell cycle progression
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in ovarian cancer overexpression was marginally associated with decreased overall survival
    Susceptibility
    Variant & Polymorphism
    Candidate gene candidate gene for USH, LCA and allied retinal ciliopathies
    Marker
    Therapy target
    ANIMAL & CELL MODELS