Pathway candidateNCBI-verifiedprotein-coding

NR1H4

nuclear receptor subfamily 1 group H member 4

NCBI Gene: 9971 Ensembl GeneCards UniProt: Q96RI1

Pathway candidate — not linked to PFS or PSSD by any record here

NR1H4 is in the library because it belongs to the nuclear receptors family. No study, report or commentary in the corpus names it, so a variant in NR1H4 is not, by itself, evidence of anything related to post-drug syndromes.

Gene summary

A protein-coding gene on chromosome 12 (steroid and nuclear hormone receptors). Encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport.

Source: NCBI Gene, accessed 2026-10-07.

Protein reference (UniProt)

Protein: Bile acid receptor
Function (excerpt): Ligand-activated transcription factor. Receptor for bile acids (BAs) such as chenodeoxycholic acid (CDCA), lithocholic acid, deoxycholic acid (DCA) and allocholic acid (ACA). Plays a essential role in BA homeostasis through the regulation of genes involved in BA synthesis, conjugation and enterohepatic circulation. Also regulates lipid and glucose homeostasis and is involved innate immune response. The FXR-RXR heterodimer binds predominantly to farnesoid X receptor response elements (FXREs) containing two inverted repeats of the consensus sequence 5'-AGGTCA-3' in which the monomers are spaced by 1 nucleotide (IR-1) but also to tandem repeat DR1 sites with lower affinity, and can be activated by either FXR or RXR-specific ligands. It is proposed that monomeric nuclear receptors such as NR5A2/LRH-1 bound to coregulatory nuclear responsive element (NRE) halfsites located in close proximity to FXREs modulate transcriptional activity (By similarity).
Subcellular location: Nucleus.
Tissue specificity: Liver and hepatocyte-related cells express mainly FXRalpha1-type isoforms with isoform 3 and isoform 4 in approximately equal proportions. In intestine and kidney mainly FXRalpha2-type isoforms are expressed with isoform 1 and isoform 2 in approximately equal proportions. Expressed in pancreatic beta cells and macrophages.
Associated conditions: Cholestasis, progressive familial intrahepatic, 5 (PFIC5).

Source: UniProtKB/Swiss-Prot Q96RI1, release 2026_03, licensed CC BY 4.0. This is the protein’s normal biology, not evidence about post-drug syndromes; associated conditions are inherited disorders of the gene, not PFS, PSSD or PRSD.

Why its pathway is in the library

Nuclear receptors transduce steroid signals into lasting gene-expression programs; persistent receptor-level remodeling (or silencing) is a leading hypothesis for symptoms that outlast drug exposure.

Written for the whole nuclear receptors family, not for NR1H4 specifically.

Mentioned in 0 corpus records

No corpus record names NR1H4 directly yet. It is in the library because it sits in a pathway the corpus tracks (Nuclear receptors).

Also in steroid and nuclear hormone receptors

All 41 genes

Browse by family on the gene families page.

Gene summary

Source: NCBI Gene, accessed 2026-10-07.

Protein reference (UniProt)

Protein: Bile acid receptor
Function (excerpt): Ligand-activated transcription factor. Receptor for bile acids (BAs) such as chenodeoxycholic acid (CDCA), lithocholic acid, deoxycholic acid (DCA) and allocholic acid (ACA). Plays a essential role in BA homeostasis through the regulation of genes involved in BA synthesis, conjugation and enterohepatic circulation. Also regulates lipid and glucose homeostasis and is involved innate immune response. The FXR-RXR heterodimer binds predominantly to farnesoid X receptor response elements (FXREs) containing two inverted repeats of the consensus sequence 5'-AGGTCA-3' in which the monomers are spaced by 1 nucleotide (IR-1) but also to tandem repeat DR1 sites with lower affinity, and can be activated by either FXR or RXR-specific ligands. It is proposed that monomeric nuclear receptors such as NR5A2/LRH-1 bound to coregulatory nuclear responsive element (NRE) halfsites located in close proximity to FXREs modulate transcriptional activity (By similarity).
Subcellular location: Nucleus.
Tissue specificity: Liver and hepatocyte-related cells express mainly FXRalpha1-type isoforms with isoform 3 and isoform 4 in approximately equal proportions. In intestine and kidney mainly FXRalpha2-type isoforms are expressed with isoform 1 and isoform 2 in approximately equal proportions. Expressed in pancreatic beta cells and macrophages.
Associated conditions: Cholestasis, progressive familial intrahepatic, 5 (PFIC5).