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FLASH GENE
Symbol TULP3 contributors: mct - updated : 18-05-2022
HGNC name tubby like protein 3
HGNC id 12425
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Endocrinethyroid    
Nervousbrainhindbraincerebellum  
 brainbasal nucleicorpus callosum  
 spinal cord    
Reproductivefemale systemuteruscervix highly
 female systemovary  highly
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
visualeye
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • N-terminal intraflagellar transport A (IFT-A)-binding domain
  • two nuclear localization signals (NLS), AA 37-40, AA 258-61
  • the first overlapping a motif of glutamines flanked by basic residues, modifying the NLS to a nucleolar localization signal, also containing a stretch of 15 predominantly hydrophobic flanked by charged residues and reminiscent of a membrane anchor domain
  • a C-terminal tubby domain with ubiquitous expression
  • HOMOLOGY
    interspecies homolog to murine Tulp3
    intraspecies homolog to TUB
    Homologene
    FAMILY tubby-like gene family
    CATEGORY adaptor , regulatory , signaling
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    text
  • displays nuclear localization and translocates from the cilium to the nucleus upon GPCR activation
  • basic FUNCTION
  • membrane bound transcription regulator
  • function as membrane-bound transcription regulators that translocate to the nucleus in response to phosphoinositide hydrolysis, providing a direct link between G-protein signaling and the regulation of gene expression
  • potential role as a negative regulatory factor in the Hh pathway
  • determines ciliary trafficking of polycystins in kidney collecting duct cells without affecting protein levels or cilia
  • controls distinct ciliary pathways that positively or negatively regulate cystogenesis depending on the cellular context
  • critical adaptor protein for ciliary trafficking
  • is a key regulator of fibrosis that functions at multiple levels
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • bind to the IFT-A complex, linked to retrograde ciliary transport, but, surprisingly, the IFT-A complex has a second role directing ciliary entry of TULP3
  • TULP3-IFT-A interaction suggests how these proteins cooperate during neural tube patterning
  • IFT122 leads to accumulation of GLI2 and GLI3 at cilia tips while blocking the ciliary localization of the antagonist TULP3
  • IFT-A complex and its membrane recruitment factor TULP3 complex promotes the entry of signaling receptors into cilia while the BBSome and its membrane recruitment factor ARL6GTP ferry activated signaling receptors out of cilia
  • interaction between TULP3 and the nuclear deacetylase SIRT1, with roles in DNA damage repair and fibrosis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PLKHD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Tulp3(-/-) murine embryos show expansion of Shh target gene expression and display a ventralization of neural progenitor cells in the caudal neural tube
  • mice homozygous for a hypomorphic missense mutation within the conserved Tubby domain of Tulp3 develop cysts at late embryonic stages, leading to severe postnatal loss of kidney function
  • embryonic-stage, nephron-specific Tulp3 knockout mice developed cystic kidneys, while retaining intact cilia