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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)
Physical map
OR10A4P 11 olfactory receptor, family 10, subfamily A, member 4 pseudogene LOC120775 11p15.4 similar to Olfactory receptor 2D3 ZNF215 11p15.4 zinc finger protein 215 ZNF214 11p15.4 zinc finger protein 214 NALP14 11p15.4 NACHT, leucine rich repeat and PYD containing 14 HNRNPG-T 11p15 testes-specific heterogenous nuclear ribonucleoprotein G-T LOC143425 11p15.4 similar to synaptotagmin V UNQ564 11p15.4 MVAL564 PPFIBP2 11p15.5 PTPRF interacting protein, binding protein 2 (liprin beta 2) CYB5R2 11p15.4 cytochrome b5 reductase b5R.2 OVTN 11p15.4 oviductin protease LOC390091 11 similar to seven transmembrane helix receptor LOC390092 11 similar to olfactory receptor MOR204-2 LOC341278 11p15.4 similar to seven transmembrane helix receptor JCG3 11p15.4 olfactory receptor-like protein JCG3 JCG1 11p15.4 olfactory receptor-like protein JCG1 OR5E1P 11p15.5 olfactory receptor, family 5, subfamily E, member 1 pseudogene LOC390093 11 similar to Olfactory receptor 10A6 OR10A3 11p15.4 olfactory receptor, family 10, subfamily A, member 3 NALP10 11p15.4 NACHT, leucine rich repeat and PYD containing 10 EIF3S5 2p16.1 eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa TUB 11p15.4 tubby homolog (mouse) RIC3 11p15.4 RIC3 protein LMO1 11p15.3 LIM domain only 1 (rhombotin 1) STK33 11p15.3 serine/threonine kinase 33 KIAA0298 11p15.5-p15.1 serine/threonine kinase 33 LOC283118 11p15.3 hypothetical LOC283118 RPL27A 11p15.5 ribosomal protein L27a ST5 11p15 suppression of tumorigenicity 5 C11orf17 11p15.3 chromosome 11 open reading frame 17 C11orf16 11p15.3 chromosome 11 open reading frame 16 ASCL3 11p15.3 achaete-scute complex (Drosophila) homolog-like 3 C11orf15 11p15.3 chromosome 11 open reading frame 15 NRIP3 11p15.3 nuclear receptor interacting protein 3 SCUBE2 11p15.3 signal peptide, CUB domain, EGF-like 2 FLJ46111 11p15.3 FLJ46111 protein
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