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FLASH GENE
Symbol TBL1Y contributors: mct - updated : 01-09-2020
HGNC name transducin (beta)-like 1Y-linked
HGNC id 18502
Location Yp11.2      Physical location : 6.778.726 - 6.959.723
Synonym symbol(s) TBL1
DNA
TYPE functioning gene
STRUCTURE 181.00 kb     19 Exon(s)    single Copie(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 2407 - 522 - Kuroda-Kawaguchi
- - 2376 - 522 - Kuroda-Kawaguchi
- - 2312 - 522 - Kuroda-Kawaguchi
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea highly Homo sapiens
Reproductivemale systemprostate    Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a F-box-like domain
  • a LISH domain
  • eight WD repeats
    • HOMOLOGY
    intraspecies homolog to TBL1X
    Homologene
    FAMILY WD repeat EBI family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in signal transduction, RNA processing, gene regulation, vesicular trafficking
  • playing a role in the maleness
  • TBL1Y is involved in the genesis of non-syndromic coarctation of the aorta
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene could be considered a novel candidate for Hereditary hearing loss (HHL)
    Marker
    Therapy target
    ANIMAL & CELL MODELS