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

Gene ID: 6095, updated on 22-Aug-2021

Summary

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
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; IDDECA; 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]
Expression
Broad expression in skin (RPKM 15.9), adrenal (RPKM 10.1) and 21 other tissues See more
Orthologs
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Genomic context

See RORA in Genome Data Viewer
Location:
15q22.2
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (60488284..61229302, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (60780483..61521501, 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 CYCS 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
GeneReviews: Not available
A genomewide association study of citalopram response in major depressive disorder.
GeneReviews: Not available
A large-scale, consortium-based genomewide association study of asthma.
GeneReviews: Not available
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available
Genome-wide association scan of trait depression.
GeneReviews: Not available
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
GeneReviews: Not available
Genome-wide association study of age at menarche in African-American women.
GeneReviews: Not available
Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.
GeneReviews: Not available
Genome-wide association study of lung function decline in adults with and without asthma.
GeneReviews: Not available
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
GeneReviews: Not available
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
MedGen: C4748041 OMIM: 618060 GeneReviews: Not available
not available
Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations.
GeneReviews: Not available
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC119326, MGC119329, DKFZp686M2414

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables beta-catenin binding IEA
Inferred from Electronic Annotation
more info
 
enables ligand-activated transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables nuclear receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables oxysterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables oxysterol binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription coactivator binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription corepressor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in T-helper 17 cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cGMP metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to hypoxia IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to interleukin-1 IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to sterol IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to sterol IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebellar Purkinje cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebellar granule cell precursor proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cholesterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in circadian regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intracellular receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in muscle cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of I-kappaB kinase/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nitric oxide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of circadian rhythm ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of vascular endothelial growth factor production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of glucose metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of macrophage activation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of steroid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in triglyceride homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in xenobiotic metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_002943.4NP_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)
    AC009560, AC087385, KC877553
    Consensus CDS
    CCDS10178.1
    UniProtKB/Swiss-Prot
    P35398
    UniProtKB/TrEMBL
    A0A0C4DFP5
    Related
    ENSP00000309753.3, ENST00000309157.8
    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_134260.3NP_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)
    AC009560, AC087385, AC107241, KC877553, KC877565
    Consensus CDS
    CCDS10179.1
    UniProtKB/Swiss-Prot
    P35398
    Related
    ENSP00000261523.5, ENST00000261523.9
    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_134261.3NP_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)
    AC009560, AC087385, AC107905, KC877553
    Consensus CDS
    CCDS10177.1
    UniProtKB/Swiss-Prot
    P35398
    Related
    ENSP00000335087.6, ENST00000335670.11
    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_134262.3NP_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, AC107241, KC877553
    Consensus CDS
    CCDS45271.1
    UniProtKB/Swiss-Prot
    P35398
    UniProtKB/TrEMBL
    A0A0C4DG53
    Related
    ENSP00000402971.2, ENST00000449337.6
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    60488284..61229302 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
  2. XM_011521878.2XP_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
  3. XM_005254584.5XP_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
  4. XM_011521875.2XP_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
  5. XM_017022467.2XP_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
  6. XM_011521877.3XP_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
  7. XM_017022466.2XP_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_011521879.3XP_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
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