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FLASH GENE
Symbol RARA contributors: mct/ - updated : 13-06-2015
HGNC name retinoic acid receptor, alpha
HGNC id 9864
Corresponding disease
RARA acute promyelocytic leukemia or myeloid leukemia (APL)
Location 17q21.2      Physical location : 38.465.422 - 38.513.894
Synonym name
  • nuclear receptor subfamily 1 group B member 1
  • nucleophosmin-retinoic acid receptor alpha fusion protein
  • NPM-RAR long form
    Synonym symbol(s) NR1B1, C13A4, RAR, RAR-alpha
    DNA
    TYPE functioning gene
    STRUCTURE 48.47 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map see NF1 NF1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 3122 - 365 - 1992 1311253
    9 splicing 3301 50 462 - 1992 1311253
    8 - 3494 50 457 - 1992 1311253
    9 splicing 3413 - 462 - 1992 1311253
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systembreastmammary gland  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal modulator domain, an activation function domain (AF-1)
  • a central DNA-binding domain (DBD) followed by a short hinge/D region
  • a central bipartite (class II) zinc finger DNA binding domain
  • a C terminal ligand domain, a ligand-binding and ligand-dependent transactivation function domain (LBD/AF-2)
  • HOMOLOGY
    Homologene
    FAMILY
  • steroid/thyroid hormone receptor superfamily
  • NR1 subfamily
  • CATEGORY transcription factor , receptor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • negatively regulating growth plate chondrocyte proliferation and matrix synthesis
  • role for RAR-alpha engagement in the regulation of genes and proteins involved with human T cell activation and type 2 cytokine production
  • requirement of RARalpha-mediated retinoid signaling specifically in germ cells
  • CELLULAR PROCESS cell life, differentiation
    nucleotide, transcription
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text adipocyte differentiation
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • component with PML, RXRA,TIF1 of a transcription complex, retinoic acid dependent
  • receptor RXRA : RARA (RXRalpha:RARalpha) are repressor of ABCC3 activation by transcription factor Sp1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • retinoic acid receptor binding
  • interacting with BNIP1 (repressed by TNIP1)
  • is a novel negative regulator of the IFN/STAT pathway, suggesting that this repression through RARA inhibition may prevent liver cancer
  • PML/RARA binds to FAS and blocks FAS-mediated apoptosis in acute promyelocytic leukemia (APL) by forming an apoptotic inhibitory complex with CFLAR
  • TRIM32 interacts with RARA and enhances its transcriptional activity in the presence of RA
  • CACUL1 is a novel type of RARA coregulator that interacts with RARA and inhibits its transcriptional activity
  • USP37 interacted with ZBTB16/RARA through the PLZF moiety and sustained ZBTB16/RARA steady state levels
  • RARA-ZBTB16 acts as a modifier oncogene that subverts differentiation in the granulocytic lineage by associating with CEBPA and inhibiting its activity
  • UCP1 expression is differently affected by RARA in mouse and human adipocytes (PMUID: 24059847)
  • cell & other
    REGULATION
    activated by both all-trans (T-RA) and its 9-cis isomer (9-cis-RA) retinoic acids
    Other regulated by TADA3 which regulates retinoic acid receptor RARA-mediated transactivation
    ASSOCIATED DISORDERS
    corresponding disease(s) RARA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    PML-RARalpha fusion alone can confer properties of self-renewal to committed hematopoietic progenitors before the onset of acute promyelocytic leukemia
    tumoral fusion      
    STAT5B-RARA fusion transcript in acute promyelocytic leukemia with the normal chromosome 17 on G-banding
    tumoral fusion      
    fusion partner of BCOR in a t(X;17)(p11;q12) variant of acute promyelocytic leukemia
    tumoral fusion      
    FIP1L1-RARA plays a pivotal role in its homodimerization and transcriptional repressor activity, contributingto the pathogenesis of distinct types of leukemia
    Susceptibility
  • to obesity
  • to meningomyelocele (MM)
  • Variant & Polymorphism SNP
  • rs12051734 conferred a protective effect for MM susceptibility (MID: 21254357)
  • Candidate gene for isolated cleft lip/palate
    Marker
    Therapy target PML-RARA degradation or therapy-triggered degradation of oncoproteins could be a general strategy to eradicate cancer stem cells
    ANIMAL & CELL MODELS