Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol RAI1 contributors: mct/pgu - updated : 16-03-2011
HGNC name retinoic acid induced 1
HGNC id 9834
Corresponding disease
DUP17P11 chromosome 17p proximal duplication (Potocki-Lupski syndrome)
SMS Smith-Magenis syndrome
Location 17p11.2      Physical location : 17.584.786 - 17.714.763
Synonym symbol(s) KIAA0292, KIAA1820, DKFZp434A139, MGC12824, SMCR, SMS
DNA
TYPE functioning gene
STRUCTURE 130.08 kb     6 Exon(s)    single Copie(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site
motif repetitive sequence   triplet
text structure
  • CAG repeat in the aminoterminus
  • DNA binding motifs
  • MAPPING cloned Y linked N status confirmed
    Map see SMS SMS (phenotype)
    regionally located within the Smith-Magenis critical region
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 5966 203 1640 - 2001 11404004
    - splicing 6138 - 214 - 2001 11404004
    3 splicing 3166 106 966 - 2010 20663924
  • unique alternatively spliced region present in isoform c
  • does not contain the domains required for nuclear localization and thus, should not affect transcription, and is not in the nucleus
  • likely plays a role elsewhere in the cell
  • 6 splicing 7663 203.4 1906 - 2003 12837267
  • GT1
  • C-terminal variant
  • localizes to the nucleus
  • 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