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    RORA RAR related orphan receptor A [ Homo sapiens (human) ]

    Gene ID: 6095, updated on 12-Nov-2017
    Official Symbol
    RORAprovided by HGNC
    Official Full Name
    RAR related orphan receptor Aprovided by HGNC
    Primary source
    HGNC:HGNC:10258
    See related
    Ensembl:ENSG00000069667 MIM:600825; Vega:OTTHUMG00000132769
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ROR1; ROR2; ROR3; RZRA; NR1F1; RZR-ALPHA
    Summary
    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 has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]
    Orthologs
    Location:
    15q22.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (60488284..61229303, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (60780483..61521502, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S10 pseudogene 22 Neighboring gene RORA antisense RNA 1 Neighboring gene interactor of little elongation complex ELL subunit 2 Neighboring gene uncharacterized LOC105370846 Neighboring gene cytochrome c, somatic pseudogene 38 Neighboring gene RORA antisense RNA 2 Neighboring gene uncharacterized LOC105370844 Neighboring gene RNA, 5S ribosomal pseudogene 397 Neighboring gene uncharacterized LOC102724802 Neighboring gene uncharacterized LOC105370842 Neighboring gene uncharacterized LOC107984805 Neighboring gene uncharacterized LOC105370841 Neighboring gene uncharacterized LOC105370847 Neighboring gene uncharacterized LOC107984782 Neighboring gene uncharacterized LOC101928850

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
    NHGRI GWA Catalog
    A genomewide association study of citalopram response in major depressive disorder.
    NHGRI GWA Catalog
    A large-scale, consortium-based genomewide association study of asthma.
    NHGRI GWA Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog
    Genome-wide association scan of trait depression.
    NHGRI GWA Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    NHGRI GWA Catalog
    Genome-wide association study of age at menarche in African-American women.
    NHGRI GWA Catalog
    Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.
    NHGRI GWA Catalog
    Genome-wide association study of lung function decline in adults with and without asthma.
    NHGRI GWA Catalog
    Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
    NHGRI GWA Catalog
    Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
    NHGRI GWA Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    NHGRI GWA Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog
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    • Circadian Clock, organism-specific biosystem (from REACTOME)
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    • Circadian rhythm, organism-specific biosystem (from KEGG)
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      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
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      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
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      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
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      Inflammatory bowel disease (IBD), organism-specific biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
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      Inflammatory bowel disease (IBD), conserved biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
    • Interleukin-4 and 13 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-4 and 13 signaling, organism-specific biosystemInterleukin-4 (IL4) is a principal regulatory cytokine during the immune response, crucially important in allergy and asthma (Nelms et al. 1999). When resting T cells are antigen-activated and expand...
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    • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
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    • RORA activates gene expression, organism-specific biosystem (from REACTOME)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC119326, MGC119329, DKFZp686M2414

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    T-helper 17 cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cGMP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to interleukin-1 IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to sterol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to sterol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    cerebellar Purkinje cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cerebellar granule cell precursor proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    circadian regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of I-kappaB kinase/NF-kappaB signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nitric oxide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of circadian rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of vascular endothelial growth factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cholesterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of glucose metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of macrophage activation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of steroid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription involved in cell fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    steroid hormone mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    transcription initiation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    triglyceride homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    xenobiotic metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    nuclear receptor ROR-alpha
    Names
    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
    transcription factor RZR-alpha

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029246.1 RefSeqGene

      Range
      5001..746020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002943.3NP_002934.1  nuclear receptor ROR-alpha isoform c

      See identical proteins and their annotated locations for NP_002934.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also called RORalpha3, contains a different 5' sequence as compared to variant 1. As a result, variant 3 encodes isoform c, whose 91 N-terminal aa differ from the 66 N-terminal aa of isoform a encoded by variant 1.
      Source sequence(s)
      AC087385, DB482516, U04899
      Consensus CDS
      CCDS10178.1
      UniProtKB/Swiss-Prot
      P35398
      UniProtKB/TrEMBL
      A0A0C4DFP5
      Related
      ENSP00000309753.3, OTTHUMP00000163658, ENST00000309157.8, OTTHUMT00000256143
      Conserved Domains (2) summary
      cd06939
      Location:297536
      NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
      cd06968
      Location:91185
      NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
    2. NM_134260.2NP_599022.1  nuclear receptor ROR-alpha isoform b

      See identical proteins and their annotated locations for NP_599022.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also called RORalpha2, contains a different 5' sequence as compared to variant 1. As a result, variant 2 encodes isoform b, whose 99 N-terminal aa differ from the 66 N-terminal aa of isoform a encoded by variant 1.
      Source sequence(s)
      AC087385, DB482516, U04898
      Consensus CDS
      CCDS10179.1
      UniProtKB/Swiss-Prot
      P35398
      Related
      ENSP00000261523.5, OTTHUMP00000163666, ENST00000261523.9, OTTHUMT00000256185
      Conserved Domains (2) summary
      cd06939
      Location:305544
      NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
      cd06968
      Location:99193
      NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
    3. NM_134261.2NP_599023.1  nuclear receptor ROR-alpha isoform a

      See identical proteins and their annotated locations for NP_599023.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also called RORalpha1, utilizes a different 5' exon than the other variants and encodes isoform a.
      Source sequence(s)
      AC087385, AC107905, U04897
      Consensus CDS
      CCDS10177.1
      UniProtKB/Swiss-Prot
      P35398
      Related
      ENSP00000335087.6, OTTHUMP00000163657, ENST00000335670.10, OTTHUMT00000256142
      Conserved Domains (2) summary
      cd06939
      Location:272511
      NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
      cd06968
      Location:66160
      NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
    4. NM_134262.2NP_599024.1  nuclear receptor ROR-alpha isoform d

      See identical proteins and their annotated locations for NP_599024.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), also called RZR-alpha, contains a different 5' sequence as compared to variant 1. As a result, variant 4 encodes isoform d, whose 11 N-terminal aa differ from the 66 N-terminal aa of isoform a encoded by variant 1.
      Source sequence(s)
      AC087385, AL532048, BC100990, U04899
      Consensus CDS
      CCDS45271.1
      UniProtKB/Swiss-Prot
      P35398
      UniProtKB/TrEMBL
      A0A0C4DG53
      Related
      ENSP00000402971.2, OTTHUMP00000247645, ENST00000449337.6, OTTHUMT00000416842
      Conserved Domains (2) summary
      cd06939
      Location:217456
      NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
      cd06968
      Location:11105
      NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      60488284..61229303 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521878.1XP_011520180.1  nuclear receptor ROR-alpha isoform X6

      See identical proteins and their annotated locations for XP_011520180.1

      Conserved Domains (2) summary
      cd06939
      Location:135374
      NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
      cl02596
      Location:123
      NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
    2. XM_005254584.4XP_005254641.1  nuclear receptor ROR-alpha isoform X3

      Conserved Domains (2) summary
      cd06939
      Location:226465
      NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
      cd06968
      Location:20114
      NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
    3. XM_011521875.1XP_011520177.1  nuclear receptor ROR-alpha isoform X2

      Conserved Domains (2) summary
      cd06939
      Location:253492
      NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
      cd06968
      Location:47141
      NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
    4. XM_017022467.1XP_016877956.1  nuclear receptor ROR-alpha isoform X6

      Conserved Domains (2) summary
      cd06939
      Location:135374
      NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
      cl02596
      Location:123
      NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
    5. XM_011521877.2XP_011520179.1  nuclear receptor ROR-alpha isoform X4

      Conserved Domains (2) summary
      cd06939
      Location:216455
      NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
      cd06968
      Location:10104
      NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
    6. XM_011521874.1XP_011520176.1  nuclear receptor ROR-alpha isoform X1

      Conserved Domains (2) summary
      cd06939
      Location:274513
      NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
      cd06968
      Location:68162
      NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
    7. XM_017022466.1XP_016877955.1  nuclear receptor ROR-alpha isoform X5

      Conserved Domains (2) summary
      cd06939
      Location:209448
      NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
      cd06968
      Location:397
      NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
    8. XM_011521879.2XP_011520181.1  nuclear receptor ROR-alpha isoform X7

      Conserved Domains (1) summary
      cd06939
      Location:125364
      NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      60900085..61640967 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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