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FLASH GENE
Symbol TUBG1 contributors: mct/ - updated : 04-12-2016
HGNC name tubulin, gamma 1
HGNC id 12417
Corresponding disease
CDCBM4 cortical dysplasia, complex, with other brain malformations 4
Location 17q21.31      Physical location : 40.761.357 - 40.767.254
Synonym name
  • tubulin, gamma polypeptide
  • tubulin gamma-1 chain
    • Synonym symbol(s) TUBG, TUBG2, TBG1, TUBGCP1, GCP-1
    DNA
    TYPE functioning gene
    STRUCTURE 5.56 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1968 - 451 - 1999 1062543
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Lymphoid/Immunethymus    
    Nervousbrain    
    Respiratorylung    
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six distinct domains clustered in the central part of primary aminoacid sequence (tubulin binding sites)
  • coiled-coil domains
    • HOMOLOGY
    Homologene
    FAMILY
  • tubulin family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • localizes at actin-based membrane protrusions, where Arp2/3 operates
  • co-localizes with GRK5, centrin, and pericentrin in centrosomes
    • basic FUNCTION
  • major constituent of microtubules
  • involved in the minus-end nucleation of microtubule assembly
  • regulates potentially Arp2/3 and actin nucleation promoting factors such as WASH1, explaining the similar effect of TUBG1 expression and WCA domain expression on stress-fibers
  • has a profound relationship with actin filament dynamics
  • implicated in the centrosomal localization of TUBG1
  • multifunctional protein which is also involved in microtubule minus-end capping, microtubule plus-end regulation and mitotic spindle checkpoint function
  • microtubule nucleation factor, that is an integral component of the DNA damage response
  • TUBG1 and its recruiting proteins (NEDD1 and CDK5RAP2) were localized at centrosomes of immature neurons, while they were lost at centrosomes in mature neurons
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • universal constituent of microtubule organizing center
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • UTP6 is a novel regulator of TUBG1 function that plays a role in stabilizing components of the gamma-tubulin small complex, which is in turn essential for assembling the larger gamma-tubulin ring complex
  • PLK1 associates with TUBG1 in mitosis and PLK1 activity contributes to phosphorylation of TUBG1
  • BRSK1 kinase activity controls centrosome homeostasis by regulating phosphorylation of TUBG1
  • binds directly to TUBG1 through a small region of just 62 AAs at the C-terminus of the protein, and interaction is required for the correct localization of TUBG1
  • interacts with the centrosomal protein gamma-tubulin TUBG1
  • interacts with Arp2/3, a complex that nucleates actin filaments, and with the Arp2/3 activator WASH1
  • BRCA1 interacts directly with TUBG1 and inhibits its microtubule nucleation activity at the centrosome
  • CEP70 protein interacts with TUBG1 to localize at the centrosome and is critical for mitotic spindle assembly
  • CUL4A or CUL4B may regulate the stability of TUBG1
  • HSPA4 may associate with NEDD1 and TUBG1, two pericentriolar material (PCM) components essential for centrosome maturation and MT nucleation
  • TMEM201 is involved in the recruitment of HAUS6 and TUBG1 to the mitotic spindle
    • cell & other
  • associated with centrosome
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDCBM4
    Susceptibility to breast cancer
    Variant & Polymorphism SNP
  • rs2134808 displayed significant associations with risk of breast cancer
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS