ENSG00000131759


Homo sapiens

Features
Gene ID: ENSG00000131759
  
Biological name :RARA
  
Synonyms : P10276 / RARA / retinoic acid receptor alpha
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q21.2
Gene start: 40309192
Gene end: 40357643
  
Corresponding Affymetrix probe sets: 1565358_at (Human Genome U133 Plus 2.0 Array)   203749_s_at (Human Genome U133 Plus 2.0 Array)   203750_s_at (Human Genome U133 Plus 2.0 Array)   211605_s_at (Human Genome U133 Plus 2.0 Array)   216300_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000462514
Ensembl peptide - ENSP00000389993
Ensembl peptide - ENSP00000464287
Ensembl peptide - ENSP00000254066
Ensembl peptide - ENSP00000377643
Ensembl peptide - ENSP00000377648
Ensembl peptide - ENSP00000377649
NCBI entrez gene - 5914     See in Manteia.
OMIM - 180240
RefSeq - XM_017024920
RefSeq - NM_000964
RefSeq - NM_001024809
RefSeq - NM_001145301
RefSeq - NM_001145302
RefSeq - XM_005257552
RefSeq - XM_005257553
RefSeq - XM_005257554
RefSeq - XM_011525095
RefSeq - XM_011525096
RefSeq Peptide - NP_001138773
RefSeq Peptide - NP_001138774
RefSeq Peptide - NP_000955
RefSeq Peptide - NP_001019980
swissprot - A8MUP8
swissprot - P10276
swissprot - Q6I9R7
swissprot - F1D8N9
swissprot - J3KSJ4
swissprot - J3QRM2
Ensembl - ENSG00000131759
  
Related genetic diseases (OMIM): 612376 - Leukemia, acute promyelocytic, 612376

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 raraaENSDARG00000056783Danio rerio
 rarabENSDARG00000034893Danio rerio
 RARAENSGALG00000037935Gallus gallus
 RaraENSMUSG00000037992Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RARB / P10826 / retinoic acid receptor betaENSG0000007709272
RARG / P13631 / retinoic acid receptor gammaENSG0000017281968
THRA / P10827 / thyroid hormone receptor, alphaENSG0000012635129
THRB / P10828 / thyroid hormone receptor betaENSG0000015109029
NR1H2 / P55055 / nuclear receptor subfamily 1 group H member 2ENSG0000013140827
NR1I2 / O75469 / nuclear receptor subfamily 1 group I member 2ENSG0000014485226
NR1H3 / Q13133 / nuclear receptor subfamily 1 group H member 3ENSG0000002543426
NR1H4 / Q96RI1 / nuclear receptor subfamily 1 group H member 4ENSG0000001250424
VDR / P11473 / vitamin D receptorENSG0000011142422
NR1I3 / Q14994 / nuclear receptor subfamily 1 group I member 3ENSG0000014325722


Protein motifs (from Interpro)
Interpro ID Name
 IPR000536  Nuclear hormone receptor, ligand-binding domain
 IPR001628  Zinc finger, nuclear hormone receptor-type
 IPR001723  Nuclear hormone receptor
 IPR003078  Retinoic acid receptor
 IPR013088  Zinc finger, NHR/GATA-type
 IPR035500  Nuclear hormone receptor-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001657 ureteric bud development IEA
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0001889 liver development IEA
 biological_processGO:0002068 glandular epithelial cell development IEA
 biological_processGO:0003148 outflow tract septum morphogenesis IEA
 biological_processGO:0003417 growth plate cartilage development IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 biological_processGO:0006468 protein phosphorylation IMP
 biological_processGO:0007165 signal transduction IDA
 biological_processGO:0007281 germ cell development IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0007565 female pregnancy IEA
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0017148 negative regulation of translation IEA
 biological_processGO:0021766 hippocampus development IEA
 biological_processGO:0030850 prostate gland development IEA
 biological_processGO:0030852 regulation of granulocyte differentiation IEA
 biological_processGO:0030853 negative regulation of granulocyte differentiation IDA
 biological_processGO:0031076 embryonic camera-type eye development IEA
 biological_processGO:0031641 regulation of myelination IEA
 biological_processGO:0032355 response to estradiol IEA
 biological_processGO:0032526 response to retinoic acid IMP
 biological_processGO:0032689 negative regulation of interferon-gamma production IDA
 biological_processGO:0032720 negative regulation of tumor necrosis factor production IDA
 biological_processGO:0032736 positive regulation of interleukin-13 production IDA
 biological_processGO:0032753 positive regulation of interleukin-4 production IDA
 biological_processGO:0032754 positive regulation of interleukin-5 production IDA
 biological_processGO:0033189 response to vitamin A IEA
 biological_processGO:0034097 response to cytokine IEA
 biological_processGO:0035264 multicellular organism growth IEA
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043277 apoptotic cell clearance IMP
 biological_processGO:0043401 steroid hormone mediated signaling pathway IEA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0045596 negative regulation of cell differentiation IEA
 biological_processGO:0045630 positive regulation of T-helper 2 cell differentiation IDA
 biological_processGO:0045666 positive regulation of neuron differentiation IEA
 biological_processGO:0045787 positive regulation of cell cycle IMP
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0045947 negative regulation of translational initiation IEA
 biological_processGO:0048167 regulation of synaptic plasticity IEA
 biological_processGO:0048384 retinoic acid receptor signaling pathway IEA
 biological_processGO:0051099 positive regulation of binding IMP
 biological_processGO:0055012 ventricular cardiac muscle cell differentiation IEA
 biological_processGO:0060010 Sertoli cell fate commitment IEA
 biological_processGO:0060173 limb development IEA
 biological_processGO:0060324 face development IEA
 biological_processGO:0060348 bone development IEA
 biological_processGO:0060534 trachea cartilage development IEA
 biological_processGO:0060591 chondroblast differentiation IEA
 biological_processGO:0061037 negative regulation of cartilage development IEA
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 biological_processGO:0071300 cellular response to retinoic acid IDA
 biological_processGO:0071391 cellular response to estrogen stimulus IDA
 cellular_componentGO:0000790 nuclear chromatin IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0009986 cell surface IC
 cellular_componentGO:0015629 actin cytoskeleton IDA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0000900 translation repressor activity, mRNA regulatory element binding IEA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001012 RNA polymerase II regulatory region DNA binding IEA
 molecular_functionGO:0001972 retinoic acid binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0003707 steroid hormone receptor activity IEA
 molecular_functionGO:0003708 retinoic acid receptor activity IEA
 molecular_functionGO:0003713 transcription coactivator activity IMP
 molecular_functionGO:0003714 transcription corepressor activity IDA
 molecular_functionGO:0004879 nuclear receptor activity IEA
 molecular_functionGO:0005102 signaling receptor binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IPI
 molecular_functionGO:0008144 drug binding IEA
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019904 protein domain specific binding IPI
 molecular_functionGO:0031490 chromatin DNA binding IDA
 molecular_functionGO:0042826 histone deacetylase binding IEA
 molecular_functionGO:0043422 protein kinase B binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IEA
 molecular_functionGO:0044323 retinoic acid-responsive element binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IDA
 molecular_functionGO:0048027 mRNA 5"-UTR binding IEA
 molecular_functionGO:0051018 protein kinase A binding IDA
 molecular_functionGO:0051393 alpha-actinin binding IPI


Pathways (from Reactome)
Pathway description
Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
Signaling by Retinoic Acid
Activation of anterior HOX genes in hindbrain development during early embryogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001428 Somatic mutation 
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 HP:0004836 Acute promyelocytic leukemia 
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 HP:0012135 Abnormality of cells of the granulocytic lineage "An anomaly of cells involved in the formation of a granulocytes, that is, of the `granulocytopoietic cell` (CL:0002191)." [DDD:akelly]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000186350 RXRA / P19793 / retinoid X receptor alpha  / complex
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000188612 SUMO2 / P61956 / small ubiquitin-like modifier 2  / reaction
 ENSG00000143320 CRABP2 / P29373 / cellular retinoic acid binding protein 2  / complex / reaction






 

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