Seroatlas · Human Serome Atlas

NR1H3

Oxysterols receptor LXR-alpha

Also known as: LXR-a, LXRa, NR1H3_HUMAN, RLD-1

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

Protein identityUniProt · HPA

UniProt accession: Q13133
Gene: NR1H3
Ensembl: ENSG00000025434
Chromosome: 11
Canonical length: 447 aa
Protein class: Nuclear receptors, Plasma proteins, Predicted intracellular proteins, Transcription factors, Transporters
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Canonical amino-acid sequenceUniProt

447 residues, UniProt reviewed canonical sequence.

>Q13133|NR1H3
     1  MSLWLGAPVP DIPPDSAVEL WKPGAQDASS QAQGGSSCIL REEARMPHSA GGTAGVGLEA
    61  AEPTALLTRA EPPSEPTEIR PQKRKKGPAP KMLGNELCSV CGDKASGFHY NVLSCEGCKG
   121  FFRRSVIKGA HYICHSGGHC PMDTYMRRKC QECRLRKCRQ AGMREECVLS EEQIRLKKLK
   181  RQEEEQAHAT SLPPRASSPP QILPQLSPEQ LGMIEKLVAA QQQCNRRSFS DRLRVTPWPM
   241  APDPHSREAR QQRFAHFTEL AIVSVQEIVD FAKQLPGFLQ LSREDQIALL KTSAIEVMLL
   301  ETSRRYNPGS ESITFLKDFS YNREDFAKAG LQVEFINPIF EFSRAMNELQ LNDAEFALLI
   361  AISIFSADRP NVQDQLQVER LQHTYVEALH AYVSIHHPHD RLMFPRMLMK LVSLRTLSSV
   421  HSEQVFALRL QDKKLPPLLS EIWDVHE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NR1H3 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): 0.38
Highest tissue expression: 84 nTPM

Expression across tissuesHPA

Tissue

liver: 84 nTPM
adipose tissue: 59 nTPM
spleen: 52 nTPM
breast: 50 nTPM
duodenum: 46 nTPM
lymph node: 44 nTPM

Single-cell type

kupffer cells: 227 nCPM
late spermatids: 73 nCPM
hepatocytes: 72 nCPM
enterocytes: 69 nCPM
paneth cells: 54 nCPM
late primary spermatocytes: 48 nCPM

Immune cell

intermediate monocyte: 13 nTPM
basophil: 7.9 nTPM
NK-cell: 5.8 nTPM
myeloid DC: 4.4 nTPM
non-classical monocyte: 4.3 nTPM
T-reg: 3.8 nTPM

Brain region

thalamus: 15 nTPM
midbrain: 11 nTPM
cerebral cortex: 11 nTPM
basal ganglia: 10 nTPM
pons: 10 nTPM
white matter: 9.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NR1H3.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 78 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Multiple sclerosis

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): 0.37
gnomAD pLI: 0.9
gnomAD missense Z: 1.3
DepMap mean gene effect: -0.02
DepMap dependency class: none

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 NR1H3 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 NR1H3 as an antibody target. Whether an autoantibody or antibody against NR1H3 could matter depends on whether native NR1H3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NR1H3 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 NR1H3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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