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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
Corresponding disease
CORD19 retinal cone-rod dystrophy 19
Location 14q24.3      Physical location : 76.127.550 - 76.421.425
Synonym name
  • related to rat 7acomp protein
  • SRC1 and TIF2-associated modulatory protein
    • Synonym symbol(s) KIAA0998, STAMP, MGC117189
    DNA
    TYPE functioning gene
    STRUCTURE 293.87 kb     32 Exon(s)
    regulatory sequence
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    32 - 4773 - 1281 localized to the cytoplasm and nucleus 2007 17116691
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Hearing/Equilibriumear   highly
    Reproductivemale systemtestis  highly
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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