• Gene id: 6095

Gene Summary

• Gene Symbol: RORA   Gene   UCSC   Ensembl
• Aliases: IDDECA, NR1F1, ROR1, ROR2, ROR3, RZR-ALPHA, RZRA
• Gene name: RAR related orphan receptor A
• Alternate names: nuclear receptor ROR-alpha, ROR-alpha, nuclear receptor RZR-alpha, nuclear receptor subfamily 1 group F member 1, retinoic acid receptor-related orphan receptor alpha, retinoid-related orphan receptor alpha, thyroid hormone nuclear receptor alpha variant 4, tran,
• Gene location: 15q22.2 (61229301: 60488283)     Exons: 21     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein
• OMIM: 600825

Protein Summary

• Protein general information: P35398  
  • Name: Nuclear receptor ROR alpha (Nuclear receptor RZR alpha) (Nuclear receptor subfamily 1 group F member 1) (RAR related orphan receptor A) (Retinoid related orphan receptor alpha)
  • Length: 523  
  • Mass: 58975
  • Tissue specificity: Widely expressed in a number of tissues. Expressed in both regulatory T-cells (Treg) and effector T-cells (Teff) (PubMed
• Sequence:

  MESAPAAPDPAASEPGSSGADAAAGSRETPLNQESARKSEPPAPVRRQSYSSTSRGISVTKKTHTSQIEIIPCKI
  CGDKSSGIHYGVITCEGCKGFFRRSQQSNATYSCPRQKNCLIDRTSRNRCQHCRLQKCLAVGMSRDAVKFGRMSK
  KQRDSLYAEVQKHRMQQQQRDHQQQPGEAEPLTPTYNISANGLTELHDDLSNYIDGHTPEGSKADSAVSSFYLDI
  QPSPDQSGLDINGIKPEPICDYTPASGFFPYCSFTNGETSPTVSMAELEHLAQNISKSHLETCQYLREELQQITW
  QTFLQEEIENYQNKQREVMWQLCAIKITEAIQYVVEFAKRIDGFMELCQNDQIVLLKAGSLEVVFIRMCRAFDSQ
  NNTVYFDGKYASPDVFKSLGCEDFISFVFEFGKSLCSMHLTEDEIALFSAFVLMSADRSWLQEKVKIEKLQQKIQ
  LALQHVLQKNHREDGILTKLICKVSTLRALCGRHTEKLMAFKAIYPDIVRLHFPPLYKELFTSEFEPAMQIDG

• Structural information:
  • Protein Domains: (272..51-)
    (/note="NR-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
  • Interpro: IPR035500  IPR000536  IPR001723  IPR003079  IPR001628   IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1N83 1S0X 4S15
  • PDBsum: 1N83 1S0X 4S15
  • DIP: 29938
  • STRING: ENSP00000261523
• Other Databases: GeneCards:  RORA  Malacards:  RORA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0050728	negative regulation of inflammatory response	IBA	biological process
GO:0001223	transcription coactivator binding	IBA	molecular function
GO:0008142	oxysterol binding	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0036315	cellular response to sterol	IDA	biological process
GO:0030522	intracellular receptor signaling pathway	IDA	biological process
GO:0008142	oxysterol binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0098531	ligand-activated transcription factor activity	IDA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0042632	cholesterol homeostasis	ISS	biological process
GO:0071456	cellular response to hypoxia	IMP	biological process
GO:0070328	triglyceride homeostasis	IMP	biological process
GO:0060850	regulation of transcription involved in cell fate commitment	ISS	biological process
GO:0045599	negative regulation of fat cell differentiation	ISS	biological process
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	IMP	biological process
GO:0042753	positive regulation of circadian rhythm	ISS	biological process
GO:0036315	cellular response to sterol	IMP	biological process
GO:0021930	cerebellar granule cell precursor proliferation	ISS	biological process
GO:0006805	xenobiotic metabolic process	ISS	biological process
GO:0001525	angiogenesis	IMP	biological process
GO:0072539	T-helper 17 cell differentiation	ISS	biological process
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0042692	muscle cell differentiation	IMP	biological process
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0019218	regulation of steroid metabolic process	ISS	biological process
GO:0010906	regulation of glucose metabolic process	ISS	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	IMP	biological process
GO:0008589	regulation of smoothened signaling pathway	ISS	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:0001223	transcription coactivator binding	IPI	molecular function
GO:0001223	transcription coactivator binding	IPI	molecular function
GO:0001223	transcription coactivator binding	IPI	molecular function
GO:0001222	transcription corepressor 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:0048511	rhythmic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	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:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
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:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0070328	triglyceride homeostasis	IEA	biological process
GO:0060850	regulation of transcription involved in cell fate commitment	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045599	negative regulation of fat cell differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0042753	positive regulation of circadian rhythm	IEA	biological process
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0021930	cerebellar granule cell precursor proliferation	IEA	biological process
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0006805	xenobiotic metabolic process	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0072539	T-helper 17 cell differentiation	IEA	biological process
GO:0071347	cellular response to interleukin-1	IEA	biological process
GO:0046068	cGMP metabolic process	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043030	regulation of macrophage activation	IEA	biological process
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0032922	circadian regulation of gene expression	IEA	biological process
GO:0021702	cerebellar Purkinje cell differentiation	IEA	biological process
GO:0019218	regulation of steroid metabolic process	IEA	biological process
GO:0010906	regulation of glucose metabolic process	IEA	biological process
GO:0008589	regulation of smoothened signaling pathway	IEA	biological process
GO:0006809	nitric oxide biosynthetic process	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001223	transcription coactivator binding	IEA	molecular function
GO:0007623	circadian rhythm	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia
hsa04659	Th17 cell differentiation
hsa05321	Inflammatory bowel disease
hsa04710	Circadian rhythm

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R