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FLASH GENE
Symbol RARA contributors: mct/ - updated : 13-06-2014
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
    Physical map
    CAB2 17q21.2 CAB2 protein ERBB2 17q11.2-q12 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) MGC14832 GRB7 17q11.2-q12 growth factor receptor-bound protein 7 ZNFN1A3 17q11.2 zinc finger protein, subfamily 1A, 3 (Aiolos) ZPBP2 17q21.2 zona pellucida binding protein 2 GSDML 17q21.2 gasdermin-like ORMDL3 17q12 ORM1-like 3 (S. cerevisiae) LOC342669 17q21.2 similar to leucine-rich repeat domain-containing protein GSDM 17q21.2 gasdermin PSMD3 17q21.1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 CSF3 17q11.2-q12 colony stimulating factor 3 (granulocyte) TRAP100 THRA 17q11.2 thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian) NR1D1 17q11.2 nuclear receptor subfamily 1, group D, member 1 MLN51 17q12-q21.3 nuclear receptor subfamily 1, group D, member 1 LOC339287 17q21.2 hypothetical protein LOC339287 Link-GEFII 17q21.2 Link guanine nucleotide exchange factor II WIRE 17q21.2 WIRE protein CDC6 17q21.3 CDC6 cell division cycle 6 homolog (S. cerevisiae) RARA 17q12 retinoic acid receptor, alpha GJC1 17q21.1 gap junction protein, chi 1, 31.9kDa (connexin 31.9) LOC390791 17 similar to peptidyl-Pro cis trans isomerase TOP2A 17q21.31 topoisomerase (DNA) II alpha 170kDa IGFBP4 17q12 insulin-like growth factor binding protein 4 CTEN 17q21.2 C-terminal tensin-like LOC284134 17q21.2 hypothetical LOC284134 CCR7 17q21.1 chemokine (C-C motif) receptor 7 SMARCE1 17q21.1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 MGC45562 17q21.2 hypothetical protein MGC45562 KRT24 17q11.2 keratin 24 KRT25B 17q21.2 keratin 25B KRT25A 17q21.2 keratin 25A KRT25C 17q21.2 keratin 25C KRT25D 17q21.2 keratin 25C MGC21518 17q21.2 hypothetical protein MGC21518 KRT12 17q21.1 keratin 12 (Meesmann corneal dystrophy)
    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
  • 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
    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