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

Gene ID: 6095, updated on 9-Dec-2024

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; AllianceGenome:HGNC:10258
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; RORa1; IDDECA; RORalpha; 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:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (60488284..61229302, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (58291519..59032551, complement)
RS_2024_09 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 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:60699237-60700436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9508 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:60770615-60771142 Neighboring gene ribosomal protein S10 pseudogene 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6497 Neighboring gene RORA antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr15:60848032-60848533 Neighboring gene interactor of little elongation complex ELL subunit 2 Neighboring gene Sharpr-MPRA regulatory region 281 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:60868357-60868906 Neighboring gene NANOG hESC enhancer GRCh37_chr15:60872753-60873579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:60912500-60913000 Neighboring gene uncharacterized LOC105370846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:60927049-60927862 Neighboring gene CYCS pseudogene 38 Neighboring gene NANOG hESC enhancer GRCh37_chr15:60942340-60942841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9516 Neighboring gene Sharpr-MPRA regulatory region 10122 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:61043731-61043925 Neighboring gene RORA antisense RNA 2 Neighboring gene uncharacterized LOC105370844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:61080390-61080890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:61080891-61081391 Neighboring gene RNA, 5S ribosomal pseudogene 397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9517 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:61096911-61097892 Neighboring gene uncharacterized LOC124903500 Neighboring gene uncharacterized LOC102724802 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:61150768-61151321 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:61151721-61152920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9518 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:61199430-61199931 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:61200438-61201637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9519 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:61224144-61225343 Neighboring gene Sharpr-MPRA regulatory region 7352 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:61239167-61239924 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:61265032-61266231 Neighboring gene uncharacterized LOC107984805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6501 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:61438991-61439492 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:61465732-61466232 Neighboring gene uncharacterized LOC105370841 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr15:61656438-61657212 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr15:61657213-61657987 Neighboring gene uncharacterized LOC105370847 Neighboring gene MPRA-validated peak2363 silencer Neighboring gene uncharacterized LOC107984782 Neighboring gene NANOG hESC enhancer GRCh37_chr15:61829371-61829872 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:61848165-61849364 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
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
MedGen: C4748041 OMIM: 618060 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
EBI GWAS Catalog
A genomewide association study of citalopram response in major depressive disorder.
EBI GWAS Catalog
A large-scale, consortium-based genomewide association study of asthma.
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
Genome-wide association scan of trait depression.
EBI GWAS Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
EBI GWAS Catalog
Genome-wide association study of age at menarche in African-American women.
EBI GWAS Catalog
Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.
EBI GWAS Catalog
Genome-wide association study of lung function decline in adults with and without asthma.
EBI GWAS Catalog
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
EBI GWAS Catalog
Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
EBI GWAS Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
EBI GWAS Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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
 
enables oxysterol binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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 coregulator 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 canonical NF-kappaB signal transduction 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
 
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 DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
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 vascular endothelial growth factor production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of DNA-templated transcription IDA
Inferred from Direct Assay
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
 
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 nucleolus IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
nuclear receptor ROR-alpha
Names
RAR-related orphan nuclear receptor 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
transcription factor RZR-alpha

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_029246.2 RefSeqGene

    Range
    5000..746018
    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/TrEMBL
    A0A0C4DFP5, B6ZGS4
    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/TrEMBL
    B6ZGS4
    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
    P35397, P35398, P35399, P45445, Q495X4, Q96H83
    UniProtKB/TrEMBL
    B6ZGS4
    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/TrEMBL
    A0A0C4DG53, B6ZGS4
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047432928.1XP_047288884.1  nuclear receptor ROR-alpha isoform X4

  2. XM_011521875.3XP_011520177.1  nuclear receptor ROR-alpha isoform X2

    UniProtKB/TrEMBL
    B6ZGS4
    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
  3. XM_011521877.4XP_011520179.1  nuclear receptor ROR-alpha isoform X3

    UniProtKB/TrEMBL
    B6ZGS4
    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
  4. XM_011521874.2XP_011520176.1  nuclear receptor ROR-alpha isoform X1

    UniProtKB/TrEMBL
    B6ZGS4
    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
  5. XM_047432930.1XP_047288886.1  nuclear receptor ROR-alpha isoform X4

  6. XM_047432929.1XP_047288885.1  nuclear receptor ROR-alpha isoform X4

  7. XM_011521879.4XP_011520181.1  nuclear receptor ROR-alpha isoform X5

    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 T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    58291519..59032551 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378582.1XP_054234557.1  nuclear receptor ROR-alpha isoform X4

  2. XM_054378580.1XP_054234555.1  nuclear receptor ROR-alpha isoform X2

    UniProtKB/TrEMBL
    B6ZGS4
  3. XM_054378581.1XP_054234556.1  nuclear receptor ROR-alpha isoform X3

    UniProtKB/TrEMBL
    B6ZGS4
  4. XM_054378579.1XP_054234554.1  nuclear receptor ROR-alpha isoform X1

    UniProtKB/TrEMBL
    B6ZGS4
  5. XM_054378584.1XP_054234559.1  nuclear receptor ROR-alpha isoform X4

  6. XM_054378583.1XP_054234558.1  nuclear receptor ROR-alpha isoform X4

  7. XM_054378585.1XP_054234560.1  nuclear receptor ROR-alpha isoform X5