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FLASH GENE
Symbol TTC9 contributors: mct - updated : 21-09-2016
HGNC name tetratricopeptide repeat domain 9
HGNC id 20267
Location 14q24.2      Physical location : 71.108.503 - 71.142.077
Synonym symbol(s) TTC9A
DNA
TYPE functioning gene
STRUCTURE 33.57 kb     3 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 5217 - 222 - 2008 18699990
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three tetratricopeptide repeats (TPRs) on its C-terminus
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • progesterone-induced TTC9 expression was associated with increased cell motility and cell spreading
  • likely TTC9 acts as a chaperone protein to facilitate the function of tropomyosins in stabilizing microfilament and it may play a role in cancer cell invasion and metastasis
  • is a negative regulator of estrogen function through a negative feedback mechanism
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TPM3 is a TTC9 partner protein
  • TTC9 interacts specifically with actin-binding protein tropomyosin TPM3 which stabilizes actin filament and focal adhesion
  • TTC9 is a direct ESR1 target gene
  • is a target gene of estrogen and progesterone
    • cell & other
    REGULATION
    induced by estrogen in estrogen target tissues
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast cancer
    constitutional     --low  
    mammary TTC9A expression is distinctively down-regulated in gland undergoing functional differentiation (lactation)
    constitutional     --over  
    mammary TTC9A expression is up-regulated during involution of gland
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Ttc9a deficiency is associated with greater body weight, bigger thymus and better mammary development in post-pubertal mice