Seroatlas · Human Serome Atlas

RORA

Nuclear receptor ROR-alpha

Also known as: NR1F1, ROR1, ROR2, ROR3, RORA_HUMAN, RZRA

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P35398
Gene: RORA
Ensembl: ENSG00000069667
Chromosome: 15
Canonical length: 523 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Nuclear receptors, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoli

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

523 residues, UniProt reviewed canonical sequence.

>P35398|RORA
     1  MESAPAAPDP AASEPGSSGA DAAAGSRETP LNQESARKSE PPAPVRRQSY SSTSRGISVT
    61  KKTHTSQIEI IPCKICGDKS SGIHYGVITC EGCKGFFRRS QQSNATYSCP RQKNCLIDRT
   121  SRNRCQHCRL QKCLAVGMSR DAVKFGRMSK KQRDSLYAEV QKHRMQQQQR DHQQQPGEAE
   181  PLTPTYNISA NGLTELHDDL SNYIDGHTPE GSKADSAVSS FYLDIQPSPD QSGLDINGIK
   241  PEPICDYTPA SGFFPYCSFT NGETSPTVSM AELEHLAQNI SKSHLETCQY LREELQQITW
   301  QTFLQEEIEN YQNKQREVMW QLCAIKITEA IQYVVEFAKR IDGFMELCQN DQIVLLKAGS
   361  LEVVFIRMCR AFDSQNNTVY FDGKYASPDV FKSLGCEDFI SFVFEFGKSL CSMHLTEDEI
   421  ALFSAFVLMS ADRSWLQEKV KIEKLQQKIQ LALQHVLQKN HREDGILTKL ICKVSTLRAL
   481  CGRHTEKLMA FKAIYPDIVR LHFPPLYKEL FTSEFEPAMQ IDG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RORA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.42
Highest tissue expression: 78 nTPM

Expression across tissuesHPA

Tissue

skin: 78 nTPM
skeletal muscle: 38 nTPM
adrenal gland: 36 nTPM
retina: 35 nTPM
liver: 27 nTPM
tongue: 19 nTPM

Single-cell type

retinal bipolar cells: 5,473 nCPM
myonuclei: 3,994 nCPM
fibro-adipogenic progenitors: 3,858 nCPM
astrocytes: 3,789 nCPM
pituitary stem cells: 3,508 nCPM
thyrotrophs: 3,332 nCPM

Immune cell

MAIT T-cell: 27 nTPM
gdT-cell: 23 nTPM
memory CD4 T-cell: 17 nTPM
T-reg: 16 nTPM
memory CD8 T-cell: 16 nTPM
naive CD8 T-cell: 12 nTPM

Brain region

cerebellum: 153 nTPM
thalamus: 151 nTPM
midbrain: 123 nTPM
amygdala: 88 nTPM
cerebral cortex: 72 nTPM
basal ganglia: 71 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RORA.

Disease | AllUniProt

Conditions RORA is implicated in, by any mechanism.

Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) MIM:618060

Disease | GeneticClinVar

43 pathogenic / likely-pathogenic of 272 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
Inborn genetic diseases
Severe intellectual deficiency
Neurodevelopmental disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.4
gnomAD pLI: 0.4
gnomAD missense Z: 2.58
DepMap mean gene effect: 0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RORA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RORA as an antibody target. Whether an autoantibody or antibody against RORA could matter depends on whether native RORA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RORA is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RORA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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