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FLASH GENE
Symbol TUB contributors: mct - updated : 30-05-2011
HGNC name tubby homolog (mouse)
HGNC id 12406
Location 11p15.4      Physical location : 8.060.179 - 8.127.653
Synonym name RD5
DNA
TYPE functioning gene
STRUCTURE 67.48 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - D11S1331 - D11S4660 - D11S932 - TUB - D11S4639 - D11S909 - cen
Authors North (97)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 6432 - 561 - 1997 9096357
12 - 6172 55 506 - 1997 9096357
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineparathyroid   highly
Hearing/Equilibriumearinnercochlea highly Homo sapiens
Nervousbrain     Homo sapiens
Urinarykidney   highly
Visualeyeretina  highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/Immunelymphocyte Homo sapiens
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • its secretion is partially dependent on its PI(4,5)P(2)-binding activity with an essential secretory signal in the N-terminus
  • C-terminal PPBD domain is critical for tubby binding to apoptotic cells
  • HOMOLOGY
    interspecies homolog to murine (Tub) tubby gene (mild naturity onset obesity)
    Homologene
    FAMILY tubby protein family
    CATEGORY transcription factor , signaling
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • intracellular messenger of GPCR signaling in energy homeostasis
  • may be involved in the hypothalamic regulation of body weight
  • lacks phosphatidylserine-binding activity, but is capable of associating with PtdIns(4,5)P2 on the inner leaflet of the plasma membrane through its highly conserved C-terminal domain
  • Tubby and TULP1, but not other family members, enhanced the uptake of membrane vesicles by retinal pigment epithelium (RPE) cells in synergy
  • potential role for TUB in insulin signalling and fuel homeostasis in adipocytes
  • tubby and TULP1 are new type of MERTK ligands to facilitate phagocytosis
  • tubby and TULP1 have potentially a critical function as phagocytosis ligands in the maintenance of retinal homeostasis
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction , sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GPCR ligand and PLCB1
  • tubby and TULP1 are new MERTK ligands and facilitate phagocytosis in a MERTK-dependent manner (Tubby specifically binds to MERTK, whereas TULP1 interacts with all three RTKs in the TAM subfamily)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Deletion mutation of the 44 AAs at tubby C-terminal end (Tubby-deltaC44) causes adult-onset obesity, retinal and cochlear degeneration in Tubby mice with unknown pathological mechanisms