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FLASH GENE
Symbol RAI1 contributors: mct/pgu - updated : 16-03-2011
HGNC name retinoic acid induced 1
HGNC id 9834
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • amino-terminal CAG repeat coding for a polyglutamine stretch
  • polyserine signal at the carboxy terminal end
  • a putative bipartite nuclear localization signal and predicted N-glycosylation sites
  • a DNA-binding domain
  • a zinc-finger-like PHD domain at the C-terminus
    • HOMOLOGY
    interspecies homolog to murine gene Rai1
    intraspecies homolog to TCF20
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • involved in the control of early neural differentiation
  • involved in transcriptional control through a multi-protein complex during the development
  • functioning as a transcriptional regulator, and important for embryonic and postnatal developments
  • dosage-sensitive transcription factor affecting multiple molecular pathways, thus contributing to the complexity of the phenotypes associated with altered gene dosage
  • bind nucleosomes and having low nuclear mobility, suggesting its ability modify chromatin and regulate gene expression
  • a positive regulator of CLOCK and an important part of the
    • circadian loop of transcription
    CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA DNA binding
    RNA
    small molecule
    protein
  • with other DNA binding proteins
  • directly regulates the expression of BDNF
  • regulates the transcription of circadian locomotor output cycles kaput (CLOCK), a key component of the mammalian circadian oscillator that transcriptionally regulates many critical circadian genes
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SMS , DUP17P11
    Susceptibility to schizophrenia
    Variant & Polymorphism repeat CAG repeat length associated with susceptibility to schizophrenia, maybe correlated with the age of onset in SCA2
    Candidate gene directly regulate circadian rhythms
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Rai1 haploinsufficiency represents a single-gene model of obesity with hyperphagia, abnormal fat distribution and altered hypothalamic gene expression associated with satiety, food intake, behavior and obesity