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FLASH GENE
Symbol TTLL5 contributors: np/mct - updated : 12-05-2014
HGNC name tubulin tyrosine ligase-like family, member 5
HGNC id 19963
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • highly homologous core tubulin tyrosine ligase domain in its N terminus, predicted to be between AAs 62 and 407
  • a C-terminal coactivator-interaction domain and three C-terminal receptor-interaction domains
  • HOMOLOGY
    interspecies homolog to rattus 7acomp protein
    Homologene
    FAMILY
  • tubulin-tyrosine ligase family, TTLL superfamily
  • CATEGORY enzyme , motor/contractile , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microfilament
    intracellular,nucleus
    text
  • localized to the centrioles at the base of the connecting cilium
  • basic FUNCTION
  • play an important role in the polyglutamylation of primary cilia
  • key initiator of polyglutamylation in alpha-tubulin
  • essential for the correct function of sperm flagella
  • has no unique function for ciliary stability or beating in brain ependymal cilia
  • might be responsible for the tubulin polyglutamination in the microtubule triplets of the centrioles, increasing the centriole stability
  • physiological function in several settings is to modify cell growth rates in a manner that can be independent of steroid hormones
  • has polyglutamylation activity, augments the activity of p160 coactivators (NCOA1 and NCOA2) in glucocorticoid receptor-regulated gene induction and repression, and displays steroid-independent growth activity with several cell types
  • participate in a unique, tissue-selective TTLL-mediated pathway for alpha-tubulin polyglutamylation that is required for sperm maturation and motility and may be relevant for male fertility
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associates with coactivators (NCOA2, NR3C1) and is selective for a subset of the steroid/nuclear receptors including glucocorticoid receptors
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CORD19
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS