• Gene id: 5914

Gene Summary

• Gene Symbol: RARA   Gene   UCSC   Ensembl
• Aliases: NR1B1, RAR
• Gene name: retinoic acid receptor alpha
• Alternate names: retinoic acid receptor alpha, RAR-alpha, nuclear receptor subfamily 1 group B member 1, nucleophosmin-retinoic acid receptor alpha fusion protein NPM-RAR long form, retinoic acid nuclear receptor alpha variant 1, retinoic acid nuclear receptor alpha variant 2,
• Gene location: 17q21.2 (40309179: 40357642)     Exons: 17     NC_000017.11
• Gene summary(Entrez): 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, granulo
• OMIM: 180240

Protein Summary

• Protein general information: P10276  
  • Name: Retinoic acid receptor alpha (RAR alpha) (Nuclear receptor subfamily 1 group B member 1)
  • Length: 462  
  • Mass: 50771
  • Tissue specificity: Expressed in monocytes. {ECO
• Sequence:

  MASNSSSCPTPGGGHLNGYPVPPYAFFFPPMLGGLSPPGALTTLQHQLPVSGYSTPSPATIETQSSSSEEIVPSP
  PSPPPLPRIYKPCFVCQDKSSGYHYGVSACEGCKGFFRRSIQKNMVYTCHRDKNCIINKVTRNRCQYCRLQKCFE
  VGMSKESVRNDRNKKKKEVPKPECSESYTLTPEVGELIEKVRKAHQETFPALCQLGKYTTNNSSEQRVSLDIDLW
  DKFSELSTKCIIKTVEFAKQLPGFTTLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSDGLTLNRTQMHNA
  GFGPLTDLVFAFANQLLPLEMDDAETGLLSAICLICGDRQDLEQPDRVDMLQEPLLEALKVYVRKRRPSRPHMFP
  KMLMKITDLRSISAKGAERVITLKMEIPGSMPPLIQEMLENSEGLDTLSGQPGGGGRDGGGLAPPPGSCSPSLSP
  SSNRSSPATHSP

• Structural information:
  • Protein Domains: (183..41-)
    (/note="NR-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
  • Interpro: IPR035500  IPR000536  IPR001723  IPR003078  IPR001628   IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1DKF 1DSZ 3A9E 3KMR 3KMZ 4DQM 5K13
  • PDBsum: 1DKF 1DSZ 3A9E 3KMR 3KMZ 4DQM 5K13
  • DIP: 34
  • STRING: ENSP00000254066
• Other Databases: GeneCards:  RARA  Malacards:  RARA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0004879	nuclear receptor activity	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0008134	transcription factor binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0048384	retinoic acid receptor signaling pathway	IBA	biological process
GO:0004879	nuclear receptor activity	IBA	molecular function
GO:0009755	hormone-mediated signaling pathway	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0090575	RNA polymerase II transcription regulator complex	IBA	cellular component
GO:0051393	alpha-actinin binding	IPI	molecular function
GO:0043422	protein kinase B binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0004879	nuclear receptor activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0048384	retinoic acid receptor signaling pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000900	translation repressor activity, mRNA regulatory element binding	IEA	molecular function
GO:0001889	liver development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008134	transcription factor binding	IEA	molecular function
GO:0008144	drug binding	IEA	molecular function
GO:0008584	male gonad development	IEA	biological process
GO:0031641	regulation of myelination	IEA	biological process
GO:0033189	response to vitamin A	IEA	biological process
GO:0042826	histone deacetylase binding	IEA	molecular function
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0048027	mRNA 5'-UTR binding	IEA	molecular function
GO:0048384	retinoic acid receptor signaling pathway	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0002068	glandular epithelial cell development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007281	germ cell development	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0030852	regulation of granulocyte differentiation	IEA	biological process
GO:0031076	embryonic camera-type eye development	IEA	biological process
GO:0032526	response to retinoic acid	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0055012	ventricular cardiac muscle cell differentiation	IEA	biological process
GO:0060010	Sertoli cell fate commitment	IEA	biological process
GO:0060173	limb development	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0060534	trachea cartilage development	IEA	biological process
GO:0060591	chondroblast differentiation	IEA	biological process
GO:0061037	negative regulation of cartilage development	IEA	biological process
GO:0004879	nuclear receptor activity	IEA	molecular function
GO:0007565	female pregnancy	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0017148	negative regulation of translation	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0030850	prostate gland development	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0034097	response to cytokine	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0045471	response to ethanol	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0001657	ureteric bud development	IEA	biological process
GO:0003148	outflow tract septum morphogenesis	IEA	biological process
GO:0003417	growth plate cartilage development	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0004879	nuclear receptor activity	IEA	molecular function
GO:0007283	spermatogenesis	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0060324	face development	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0004879	nuclear receptor activity	IDA	molecular function
GO:0001972	retinoic acid binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IDA	biological process
GO:0032720	negative regulation of tumor necrosis factor production	IDA	biological process
GO:0032753	positive regulation of interleukin-4 production	IDA	biological process
GO:0045630	positive regulation of T-helper 2 cell differentiation	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0009986	cell surface	IC	cellular component
GO:0032689	negative regulation of interferon-gamma production	IDA	biological process
GO:0032736	positive regulation of interleukin-13 production	IDA	biological process
GO:0032754	positive regulation of interleukin-5 production	IDA	biological process
GO:0032526	response to retinoic acid	IMP	biological process
GO:0048384	retinoic acid receptor signaling pathway	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0051018	protein kinase A binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0071391	cellular response to estrogen stimulus	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0044323	retinoic acid-responsive element binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0030853	negative regulation of granulocyte differentiation	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0048384	retinoic acid receptor signaling pathway	IDA	biological process
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005102	signaling receptor binding	IDA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0051099	positive regulation of binding	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045787	positive regulation of cell cycle	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0043277	apoptotic cell clearance	IMP	biological process
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0006468	protein phosphorylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05202	Transcriptional misregulation in cancer
hsa04915	Estrogen signaling pathway
hsa04659	Th17 cell differentiation
hsa05221	Acute myeloid leukemia
hsa04659	Th17 cell differentiation
hsa04915	Estrogen signaling pathway
hsa05200	Pathways in cancer
hsa05202	Transcriptional misregulation in cancer
hsa05221	Acute myeloid leukemia
hsa05200	Pathways in cancer
hsa04915	Estrogen signaling pathway
hsa05202	Transcriptional misregulation in cancer
hsa04659	Th17 cell differentiation
hsa05221	Acute myeloid leukemia

Diseases

Associated diseases	References
Cleft defects	GAD: 12030886
Hepatopulmonary syndrome	GAD: 20346360
Myopia	GAD: 19626135
Hypercholesterolemia	GAD: 20602615
Alzheimer's disease	GAD: 19141999
Schizophrenia	GAD: 15635645
Increase the proliferation and differentiation of spermatogonia	MIK: 17905941
Spermatogenesis defects	MIK: 9116160
Mood disorder	PMID:19596122
Cryptorchidism	MIK: 28606200
Role in meiosis, at the transition from round to elongating spermatids, and in Sertoli cells of developing testis	MIK: 9116160

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
9116160	Role in meiosis, at the transition from round to elongating spermatids, and in Sertoli cells of developing testis				Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq