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Aliases for RARA Gene

Aliases for RARA Gene

  • Retinoic Acid Receptor Alpha 2 3
  • Nuclear Receptor Subfamily 1 Group B Member 1 3 4
  • Retinoic Acid Receptor, Alpha 2 5
  • RAR-Alpha 3 4
  • NR1B1 3 4
  • Nucleophosmin-Retinoic Acid Receptor Alpha Fusion Protein NPM-RAR Long Form 3
  • Retinoic Acid Nuclear Receptor Alpha Variant 1 3
  • Retinoic Acid Nuclear Receptor Alpha Variant 2 3
  • Retinoic Acid Receptor, Alpha Polypeptide 3
  • RAR 3

External Ids for RARA Gene

Previous GeneCards Identifiers for RARA Gene

  • GC17P037961
  • GC17P040640
  • GC17P038374
  • GC17P038838
  • GC17P038860
  • GC17P035718
  • GC17P038465
  • GC17P034259

Summaries for RARA Gene

Entrez Gene Summary for RARA Gene

  • This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]

GeneCards Summary for RARA Gene

RARA (Retinoic Acid Receptor Alpha) is a Protein Coding gene. Diseases associated with RARA include leukemia, acute promyelocytic, somatic and leukemia. Among its related pathways are Gene Expression and Signaling by GPCR. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is NR4A2.

UniProtKB/Swiss-Prot for RARA Gene

  • Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5-AGGTCA-3 sites known as DR1-DR5. In the absence of ligand, the RXR-RAR heterodimers associate with a multiprotein complex containing transcription corepressors that induce histone acetylation, chromatin condensation and transcriptional suppression. On ligand binding, the corepressors dissociate from the receptors and associate with the coactivators leading to transcriptional activation. RARA plays an essential role in the regulation of retinoic acid-induced germ cell development during spermatogenesis. Has a role in the survival of early spermatocytes at the beginning prophase of meiosis. In Sertoli cells, may promote the survival and development of early meiotic prophase spermatocytes. In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function (By similarity). Regulates expression of target genes in a ligand-dependent manner by recruiting chromatin complexes containing KMT2E/MLL5. Mediates retinoic acid-induced granulopoiesis.

Tocris Summary for RARA Gene

  • Retinoic acid receptors (RARs) are nuclear hormone receptors of the NR1B class, which function as heterodimers with retinoid X receptors (RXRs). There are three distinct RAR subtypes: RARalpha, present in most tissue types; and RARbeta and RARgamma, with more selective expression.

Gene Wiki entry for RARA Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RARA Gene

Genomics for RARA Gene

Regulatory Elements for RARA Gene

Promoters for RARA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RARA on UCSC Golden Path with GeneCards custom track

Genomic Location for RARA Gene

Chromosome:
17
Start:
40,309,171 bp from pter
End:
40,357,643 bp from pter
Size:
48,473 bases
Orientation:
Plus strand

Genomic View for RARA Gene

Genes around RARA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RARA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RARA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RARA Gene

Proteins for RARA Gene

  • Protein details for RARA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10276-RARA_HUMAN
    Recommended name:
    Retinoic acid receptor alpha
    Protein Accession:
    P10276
    Secondary Accessions:
    • B8Y636
    • P78456
    • Q13440
    • Q13441
    • Q96S41
    • Q9NQS0

    Protein attributes for RARA Gene

    Size:
    462 amino acids
    Molecular mass:
    50771 Da
    Quaternary structure:
    • Heterodimer; with RXRA. Binds DNA preferentially as a heterodimer. Interacts with CDK7 (By similarity). Interacts with coactivators NCOA3 and NCOA6. Interacts with NCOA7; the interaction requires ligand-binding. Interacts with KMT2E/MLL5. Interacts (via the ligand-binding domain) with PRAME; the interaction is ligand (retinoic acid)-dependent. Interacts with AKT1; the interaction phosphorylates RARA and represses transactivation. Interacts with PRKAR1A; the interaction negatively regulates RARA transcriptional activity. Interacts with NCOR1 and NCOR2. Interacts with PRMT2. Interacts with LRIF1. Interacts with ASXL1 and NCOA1. Interacts with ACTN4.
    SequenceCaution:
    • Sequence=AAB00112.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAB00113.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB62809.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RARA Gene

    Alternative splice isoforms for RARA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RARA Gene

Proteomics data for RARA Gene at MOPED

Post-translational modifications for RARA Gene

  • Phosphorylated on serine and threonine residues. Phosphorylation does not change during cell cycle. Phosphorylation on Ser-77 is crucial for transcriptional activity (By similarity). Phosphorylation by AKT1 is required for the repressor activity but has no effect on DNA binding, protein stability nor subcellular localization. Phosphorylated by PKA in vitro. This phosphorylation on Ser-219 and Ser-369 is critical for ligand binding, nuclear localization and transcriptional activity in response to FSH signaling.
  • Sumoylated with SUMO2, mainly on Lys-399 which is also required for SENP6 binding. On all-trans retinoic acid (ATRA) binding, a confromational change may occur that allows sumoylation on two additional site, Lys-166 and Lys-171. Probably desumoylated by SENP6. Sumoylation levels determine nuclear localization and regulate ATRA-mediated transcriptional activity.
  • Trimethylation enhances heterodimerization with RXRA and positively modulates the transcriptional activation.
  • Ubiquitinated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for RARA (RAR alpha/NR1B1)
  • Cell Signaling Technology (CST) Antibodies for RARA (RARA)

No data available for DME Specific Peptides for RARA Gene

Domains & Families for RARA Gene

Gene Families for RARA Gene

Graphical View of Domain Structure for InterPro Entry

P10276

UniProtKB/Swiss-Prot:

RARA_HUMAN :
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Domain:
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
  • Contains 1 nuclear receptor DNA-binding domain.
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
genes like me logo Genes that share domains with RARA: view

Function for RARA Gene

Molecular function for RARA Gene

GENATLAS Biochemistry:
retinoic acid receptor binding and activated by both all-trans (T-RA) and its 9-cis isomer (9-cis-RA) retinoic acids,alpha subunit,steroid/thyroid hormone receptor superfamily
UniProtKB/Swiss-Prot Function:
Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5-AGGTCA-3 sites known as DR1-DR5. In the absence of ligand, the RXR-RAR heterodimers associate with a multiprotein complex containing transcription corepressors that induce histone acetylation, chromatin condensation and transcriptional suppression. On ligand binding, the corepressors dissociate from the receptors and associate with the coactivators leading to transcriptional activation. RARA plays an essential role in the regulation of retinoic acid-induced germ cell development during spermatogenesis. Has a role in the survival of early spermatocytes at the beginning prophase of meiosis. In Sertoli cells, may promote the survival and development of early meiotic prophase spermatocytes. In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function (By similarity). Regulates expression of target genes in a ligand-dependent manner by recruiting chromatin complexes containing KMT2E/MLL5. Mediates retinoic acid-induced granulopoiesis.

Gene Ontology (GO) - Molecular Function for RARA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001972 retinoic acid binding IDA 2825025
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA,IDA 18922886
GO:0003714 transcription corepressor activity IDA 20080953
GO:0005515 protein binding IPI 9653119
GO:0008134 transcription factor binding IPI 17641689
genes like me logo Genes that share ontologies with RARA: view
genes like me logo Genes that share phenotypes with RARA: view

Human Phenotype Ontology for RARA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RARA Gene

MGI Knock Outs for RARA:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RARA Gene

Localization for RARA Gene

Subcellular locations from UniProtKB/Swiss-Prot for RARA Gene

Nucleus. Cytoplasm. Note=Nuclear localization depends on ligand binding, phosphorylation and sumoylation. Transloaction to the nucleus in the absence of ligand is dependent on activation of PKC and the downstream MAPK phosphorylation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RARA Gene COMPARTMENTS Subcellular localization image for RARA gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RARA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 18845237
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with RARA: view

Pathways & Interactions for RARA Gene

genes like me logo Genes that share pathways with RARA: view

SIGNOR curated interactions for RARA Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for RARA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001657 ureteric bud development IEA --
GO:0001843 neural tube closure IEA --
GO:0002068 glandular epithelial cell development IEA --
GO:0003148 outflow tract septum morphogenesis IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with RARA: view

Drugs & Compounds for RARA Gene

(65) Drugs for RARA Gene - From: IUPHAR, DGIdb, Novoseek, DrugBank, HMDB, PharmGKB, Tocris, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tamibarotene Approved, Investigational Pharma Agonist, binder, Target, agonist RARα agonist 0
Acitretin Approved Pharma inhibitor, Target, agonist Metabolite of etretinate 30
Adapalene Approved Pharma binder, Target, agonist RAR尾 and RAR纬 agonist 71
Tazarotene Approved, Investigational Pharma binder, Target, agonist Topical retinoid;antiproliferative;inducer of TIG3 tumor suppressor 39
Tretinoin Approved, Investigational Nutra Full agonist, Agonist, binder 210

(51) Additional Compounds for RARA Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Am 580
102121-60-8
Cd 437
125316-60-1
Ch 55
110368-33-7
retinoic acid
302-79-4
9-cis-retinoic acid
  • 15-Apo-beta-caroten-15-oate
  • 15-Apo-beta-caroten-15-oic acid
  • 9-cis-Retinoate
  • 9-cis-Retinoic acid
  • 9-cis-Tretinoin
Agonist

(5) Tocris Compounds for RARA Gene

Compound Action Cas Number
AM 580 Retinoic acid analog; RARalpha agonist 102121-60-8
CD 437 RARgamma-selective agonist 125316-60-1
Ch 55 Potent RAR agonist 110368-33-7
Retinoic acid Endogenous retinoic acid receptor agonist 302-79-4
TTNPB Retinoic acid analog; RAR agonist 71441-28-6

(7) ApexBio Compounds for RARA Gene

Compound Action Cas Number
Acitretin Metabolite of etretinate 55079-83-9
Adapalene RAR尾 and RAR纬 agonist 106685-40-9
Tamibarotene RARα agonist 94497-51-5
Tazarotene Topical retinoid;antiproliferative;inducer of TIG3 tumor suppressor 118292-40-3
Tretinoin (Aberela) 302-79-4
TTNPB (Arotinoid Acid) Potent RAR agonist 71441-28-6
Vitamin A Acetate Unsaturated nutritional hydrocarbons 127-47-9
genes like me logo Genes that share compounds with RARA: view

Drug Products

Transcripts for RARA Gene

Unigene Clusters for RARA Gene

Retinoic acid receptor, alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RARA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - -
SP4: -
SP5: - - - -
SP6:
SP7: -
SP8: -

Relevant External Links for RARA Gene

GeneLoc Exon Structure for
RARA
ECgene alternative splicing isoforms for
RARA

Expression for RARA Gene

mRNA expression in normal human tissues for RARA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RARA Gene

This gene is overexpressed in Whole Blood (x9.5).

Protein differential expression in normal tissues from HIPED for RARA Gene

This gene is overexpressed in Heart (54.1) and Cerebrospinal fluid (14.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RARA Gene



SOURCE GeneReport for Unigene cluster for RARA Gene Hs.654583

genes like me logo Genes that share expression patterns with RARA: view

Protein tissue co-expression partners for RARA Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for RARA Gene

Orthologs for RARA Gene

This gene was present in the common ancestor of animals.

Orthologs for RARA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RARA 35
  • 94.59 (n)
  • 99.57 (a)
RARA 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RARA 35
  • 94.66 (n)
  • 99.35 (a)
RARA 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rara 35
  • 91.56 (n)
  • 98.27 (a)
Rara 16
Rara 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rara 35
  • 90.27 (n)
  • 98.14 (a)
oppossum
(Monodelphis domestica)
Mammalia RARA 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RARA 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RARA 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves RARA 35
  • 87 (n)
  • 95.27 (a)
RARA 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RARA 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rara 35
  • 79.13 (n)
  • 90.65 (a)
African clawed frog
(Xenopus laevis)
Amphibia rara2a 35
zebrafish
(Danio rerio)
Actinopterygii rara2a 35
raraa 35
  • 79.37 (n)
  • 88.62 (a)
raraa 36
  • 80 (a)
OneToMany
rarab 36
  • 84 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4014 35
fruit fly
(Drosophila melanogaster)
Insecta Eip75B 37
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea sex-1 37
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8261 36
  • 40 (a)
OneToMany
Species with no ortholog for RARA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RARA Gene

ENSEMBL:
Gene Tree for RARA (if available)
TreeFam:
Gene Tree for RARA (if available)

Paralogs for RARA Gene

Paralogs for RARA Gene

genes like me logo Genes that share paralogs with RARA: view

Variants for RARA Gene

Sequence variations from dbSNP and Humsavar for RARA Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs482284 -- 40,347,989(+) GGGCA(A/G)GAGCT intron-variant
rs2229771 -- 40,348,368(+) CCCTC(A/G)CCACC intron-variant, reference, synonymous-codon
rs2229772 -- 40,356,317(+) CTGCC(C/G)CCACC utr-variant-3-prime
rs2229773 -- 40,356,228(+) GTGAC(C/T)GCCCA utr-variant-3-prime
rs2246292 -- 40,351,009(+) TCCCC(C/T)TCTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RARA Gene

Variant ID Type Subtype PubMed ID
nsv833445 CNV Loss 17160897
nsv908222 CNV Loss 21882294
esv2671593 CNV Deletion 23128226

Variation tolerance for RARA Gene

Residual Variation Intolerance Score: 10.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.96; 19.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RARA Gene

HapMap Linkage Disequilibrium report
RARA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RARA Gene

Disorders for RARA Gene

MalaCards: The human disease database

(15) MalaCards diseases for RARA Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukemia, acute promyelocytic, somatic
  • leukemia, acute promyelocytic
leukemia
myeloid leukemia
  • leukemia myelogenous
embryonal carcinoma
  • primary extragonadal embryonal carcinoma
teratocarcinoma
  • mixed embryonal carcinoma and teratoma
- elite association - COSMIC cancer census association via MalaCards
Search RARA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RARA_HUMAN
  • Note=Chromosomal aberrations involving RARA are commonly found in acute promyelocytic leukemia. Translocation t(11;17)(q32;q21) with ZBTB16/PLZF; translocation t(15;17)(q21;q21) with PML; translocation t(5;17)(q32;q11) with NPM. The PML-RARA oncoprotein requires both the PML ring structure and coiled-coil domain for both interaction with UBE2I, nuclear microspeckle location and sumoylation. In addition, the coiled-coil domain functions in blocking RA-mediated transactivation and cell differentiation. {ECO:0000269 PubMed:12691149, ECO:0000269 PubMed:8302850, ECO:0000269 PubMed:8562957}.

Genatlas disease for RARA Gene

acute promyelocytic leukemia or myeloid leukemia (APL),common breakpoints in translocation t (15;17) clustered in RARA second intron (see PML),in translocation t(11;17) (see ZNF145),in translocation t(5;17),and others

Relevant External Links for RARA

Genetic Association Database (GAD)
RARA
Human Genome Epidemiology (HuGE) Navigator
RARA
Tumor Gene Database (TGDB):
RARA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RARA
genes like me logo Genes that share disorders with RARA: view

Publications for RARA Gene

  1. RARalpha is a regulatory factor for Am-80-induced cell growth inhibition of hematologic malignant cells. (PMID: 17611697) Jimi S. … Tamura K. (Int. J. Oncol. 2007) 3 23 25 26
  2. Identification of a receptor for the morphogen retinoic acid. (PMID: 2825036) Giguere V. … Evans R.M. (Nature 1987) 2 3 4 67
  3. Up-regulation of the alpha-secretase ADAM10 by retinoic acid receptors and acitretin. (PMID: 19144697) Tippmann F. … Fahrenholz F. (FASEB J. 2009) 3 25 26
  4. Open-label pilot study of alitretinoin gel 0.1% in the treatment of photoaging. (PMID: 16144296) Baumann L. … Bryde J. (Cutis 2005) 23 25 26
  5. Characterization of human circulating TIG2 as a ligand for the orphan receptor ChemR23. (PMID: 14675762) Meder W. … Forssmann W.G. (FEBS Lett. 2003) 23 25 26

Products for RARA Gene

Sources for RARA Gene

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