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FLASH GENE
Symbol RAI1 contributors: mct/pgu - updated : 16-03-2011
HGNC name retinoic acid induced 1
HGNC id 9834
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticthymus   highly
Cardiovascularheart    
Endocrinepancreas   highly
Nervousbrain   highly
 spinal cord    
Reproductivefemale systemovary  highly
Respiratorylung   moderately
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Lymphoid    
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text liver, brain
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