RORA - RAR related orphan receptor A Gene

Also Known as ROR1; ROR2; ROR3; RZRA; NR1F1; IDDECA; RZR-ALPHA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6095

About RORA

Cytogenetic location: 15q22.2 Genomic coordinates (GRCh38): 15:60,488,284-61,229,302 (from NCBI)

This gene has 14 transcripts (splice variants), 395 orthologues, 18 paralogues and is associated with 2 phenotypes. Broad expression in skin (RPKM 15.9), adrenal (RPKM 10.1) and 21 other tissues.

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]

RORA Products (11)

mRNA Protein Name
XM_047432928.1 XP_047288884.1 nuclear receptor ROR-alpha isoform X4
XM_011521877.4 XP_011520179.1 nuclear receptor ROR-alpha isoform X3
NM_134260.3 NP_599022.1 nuclear receptor ROR-alpha isoform b
XM_011521874.2 XP_011520176.1 nuclear receptor ROR-alpha isoform X1
XM_011521879.4 XP_011520181.1 nuclear receptor ROR-alpha isoform X5
NM_134261.3 NP_599023.1 nuclear receptor ROR-alpha isoform a
XM_011521875.3 XP_011520177.1 nuclear receptor ROR-alpha isoform X2
XM_047432929.1 XP_047288885.1 nuclear receptor ROR-alpha isoform X4
XM_047432930.1 XP_047288886.1 nuclear receptor ROR-alpha isoform X4
NM_002943.4 NP_002934.1 nuclear receptor ROR-alpha isoform c
NM_134262.3 NP_599024.1 nuclear receptor ROR-alpha isoform d
Molecular Function GO Annotation Evidence References Source
enables DNA binding IDA
IDA: Inferred from direct assay
7926749 GOA
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
7926749 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
21628546 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
19955433 GOA
enables ligand-activated transcription factor activity IDA
IDA: Inferred from direct assay
19965867 GOA
enables oxysterol binding IDA
IDA: Inferred from direct assay
19965867 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9862959 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
11053433 GOA
enables transcription coactivator binding IPI
IPI: Inferred from physical interaction
9862959 GOA
enables transcription coregulator binding IPI
IPI: Inferred from physical interaction
14701856 GOA
enables transcription corepressor binding IPI
IPI: Inferred from physical interaction
9328355 GOA
Biological Process GO Annotation Evidence References Source
involved in angiogenesis IMP
IMP: Inferred from mutant phenotype
18658046 GOA
involved in cellular response to hypoxia IMP
IMP: Inferred from mutant phenotype
18658046 GOA
involved in cellular response to sterol IDA
IDA: Inferred from direct assay
19965867 GOA
involved in cellular response to sterol IMP
IMP: Inferred from mutant phenotype
18658046 GOA
involved in intracellular receptor signaling pathway IDA
IDA: Inferred from direct assay
19965867 GOA
involved in muscle cell differentiation IMP
IMP: Inferred from mutant phenotype
9862959 GOA
involved in negative regulation of canonical NF-kappaB signal transduction IMP
IMP: Inferred from mutant phenotype
11252722 GOA
involved in negative regulation of inflammatory response IMP
IMP: Inferred from mutant phenotype
11252722 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
7926749 GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
17545671 GOA
involved in positive regulation of vascular endothelial growth factor production IMP
IMP: Inferred from mutant phenotype
18658046 GOA
involved in regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
9328355 GOA
involved in triglyceride homeostasis IMP
IMP: Inferred from mutant phenotype
11053433 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
18658046 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RORA Protein Structure

zf-C4

zf-C4: Zinc finger, C4 type (two domains) (72 - 140)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (303 - 488)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 523 a.a.
Protein Preferred Names Protein 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

  • transcription factor RZR-alpha

RORA Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RORA P35398 GFAP Homo sapiens P14136 25416956
Intra
RORA P35398 NR0B1 Homo sapiens P51843 16713569
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Bipolar Disorder
  • Bipolar Depression

  • Manic Disorder

  • Depression, Bipolar

  • Bipolar Disorder Manic Phase

  • Depressive-Manic Psych.

  • Manic Bipolar Affective Disorder

  • Manic Bipolar I Disorder

  • Manic Depression

  • Manic Depressive Disorder

  • Mixed Bipolar Disorder

  • Bipolar Affective Disorder

  • Bipolar Affective Psychosis

  • Bipolar Spectrum Disorder

  • Manic Depressive Illness

  • Depression Bipolar

  • Bipolar Disorder, Mixed

  • Major Affective Disorder

  • Major Affective Disorder 1

  • Major Affective Disorder 2

Spinocerebellar Ataxia 1
  • Spinocerebellar Ataxia Type 1

  • SCA1

  • Olivopontocerebellar Atrophy I

  • Opca1

  • Opca4

  • Menzel Type Opca

  • Schut-Haymaker Type Opca

  • Spinocerebellar Atrophy I

  • Opca I

  • Olivopontocerebellar Atrophy Iv

  • Opca Iv

  • Cerebelloparenchymal Disorder I

  • Cpd1

  • Olivopontocerebellar Atrophy 1

  • Cerebelloparenchymal Disorder 1

  • Olivopontocerebellar Atrophy 4

  • Spinocerebellar Atrophy 1

  • Type 1 Spinocerebellar Ataxia

  • Spinocerebellar Ataxia-1

  • Ataxia, Spinocerebellar, Type 1

Inflammatory Bowel Disease
  • Inflammatory Bowel Diseases

  • Bowel Disease, Inflammatory

Asthma
  • Chronic Obstructive Asthma

  • Asthma, Diminished Response To Antileukotriene Treatment In

  • Bronchial Hyperreactivity

  • Asthma, Susceptibility To

  • Asthma, Bronchial

  • Asthma, Protection Against

  • Asthma, Nocturnal, Susceptibility To

  • Nocturnal Asthma

  • Asthma-Related Traits

  • Asthma-Related Traits, Susceptibility To

  • Asthma, Nocturnal

  • Chronic Obstructive Asthma With Acute Exacerbation

  • Chronic Obstructive Asthma With Status Asthmaticus

  • Exercise Induced Asthma

  • Exercise-Induced Asthma

  • Bronchial Asthma

  • Asthma, Exercise-Induced

  • Idiosyncratic Asthma

  • Unspecified Asthma With Acute Exacerbation

  • Asthma, Unspecified, With Stated Status Asthmaticus

  • Status Asthmaticus Nos

  • Acute Severe Asthma

  • Acute Severe Bronchial Asthma

  • Status Asthma

  • Status Post Asthmaticus

Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
  • IDDECA

Robinow Syndrome
  • Acral Dysostosis With Facial And Genital Abnormalities

  • Fetal Face Syndrome

  • Robinow Dwarfism

  • Mesomelic Dwarfism-Small Genitalia Syndrome

  • Robinow-Silverman-Smith Syndrome

  • Costovertebral Segmentation Defect With Mesomelia

  • Covesdem Syndrome

  • Robinow'S Syndrome

  • Robinow-Silverman Syndrome

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

Autism Spectrum Disorder
  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified

Bronchiectasis 3
Robinow Syndrome, Autosomal Recessive 1
  • Robinow Syndrome, Autosomal Recessive

  • Autosomal Recessive Robinow Syndrome

  • Covesdem Syndrome

  • RRS1

  • Costovertebral Segmentation Defect-Mesomelia Syndrome

  • Rrs

  • Costovertebral Segmentation Defect With Mesomelia, Formerly

  • Covesdem Syndrome, Formerly

  • Costovertebral Segmentation Defect With Mesomelia

  • Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

  • Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly

  • Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

  • Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly

  • Robinow, Autosomal Recessive Syndrome, Type 1

Epidermolysis Bullosa Acquisita
  • Acquired Epidermolysis Bullosa

  • Eb Acquisita

  • Eba

  • Eba - [Epidermolysis Bullosa Acquisita]

Major Depressive Disorder
  • Seasonal Affective Disorder

  • Unipolar Depression

  • Depression

  • MDD

  • Depressive Disorder

  • Unipolar Depression, Susceptibility To

  • Major Depressive Disorder 1

  • Major Depressive Disorder, Response To Citalopram Therapy In

  • Major Depressive Disorder 2

  • Winter Depression

  • Single Major Depressive Episode

  • Sad

  • Clinical Depression

  • Major Depression

  • Depressive Syndrome

  • Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

  • Seasonal Affective Disorder, Susceptibility To

  • Recurrent Major Depression

  • Affective Disorder, Seasonal

  • Depression In A Seasonal Pattern

  • Depression

  • Seasonal

  • Major Depressive Disorder With A Seasonal Pattern

  • Seasonal Depression

  • Seasonal Mood Disorder

  • Mental Depression

  • Recurrent Major Depressive Episodes

Advanced Sleep Phase Syndrome
  • Fasps

  • Familial Advanced Sleep-Phase Syndrome

  • Advanced Sleep Phase Syndrome, Familial

  • Familial Advanced Sleep Phase Syndrome

  • Sleep Phase Syndrome, Advanced, Familial

  • Advanced Sleep-Phase Syndrome, Familial

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta RORA VGNC VGNC:76717
Felis catus RORA VGNC VGNC:64721
Canis familiaris RORA VGNC VGNC:45695
Mus musculus RORA MGD MGI:104661
Rattus norvegicus RORA RGD RGD:1308419
Bos taurus RORA VGNC VGNC:34088
Others RORA NCBI